Variant report

Variant	nsv906
Chromosome Location	chr12:120973683-121018441
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:686)
CpG islands
(count:184)
Chromatin interactive
region (count:90)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:686 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:120983690-120984058	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:120978089-120978720	K562	blood:	n/a	n/a
3	ARID3A	chr12:120977167-120977623	K562	blood:	n/a	n/a
4	ARID3A	chr12:120987832-120988497	HepG2	liver:	n/a	n/a
5	ATF1	chr12:120978189-120978715	K562	blood:	n/a	n/a
6	ATF3	chr12:120978233-120978691	K562	blood:	n/a	n/a
7	BACH1	chr12:120978319-120978551	K562	blood:	n/a	n/a
8	BACH1	chr12:121017152-121017257	K562	blood:	n/a	n/a
9	BACH1	chr12:120979200-120979224	K562	blood:	n/a	n/a
10	BACH1	chr12:120977101-120977575	K562	blood:	n/a	n/a
11	BACH1	chr12:120977142-120977443	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr12:121018210-121019709	A549	lung:	n/a	chr12:121018532-121018541
13	BHLHE40	chr12:120977122-120977314	K562	blood:	n/a	n/a
14	BHLHE40	chr12:120978148-120978638	K562	blood:	n/a	n/a
15	BHLHE40	chr12:120988009-120988486	HepG2	liver:	n/a	n/a
16	BHLHE40	chr12:121017063-121017302	K562	blood:	n/a	n/a
17	CBX3	chr12:120978178-120978702	K562	blood:	n/a	n/a
18	CCNT2	chr12:120978000-120978645	K562	blood:	n/a	chr12:120978339-120978359
19	CCNT2	chr12:121016994-121017387	K562	blood:	n/a	chr12:121017216-121017236
20	CEBPB	chr12:120978237-120978761	K562	blood:	n/a	n/a
21	CEBPB	chr12:121005435-121005609	HepG2	liver:	n/a	n/a
22	CEBPB	chr12:121005372-121005708	ECC-1	luminal epithelium:	n/a	n/a
23	CEBPB	chr12:120984730-120985030	A549	lung:	n/a	chr12:120984870-120984881
24	CEBPB	chr12:120988224-120988463	HepG2	liver:	n/a	n/a
25	CEBPB	chr12:120984723-120985036	HepG2	liver:	n/a	chr12:120984870-120984881
26	CEBPB	chr12:121005390-121005683	ECC-1	luminal epithelium:	n/a	n/a
27	CEBPB	chr12:120988076-120988513	A549	lung:	n/a	n/a
28	CEBPB	chr12:120988189-120988452	IMR90	lung:	n/a	n/a
29	CEBPB	chr12:120978303-120978630	K562	blood:	n/a	n/a
30	CEBPB	chr12:120988095-120988464	A549	lung:	n/a	n/a
31	CEBPB	chr12:120988075-120988527	A549	lung:	n/a	n/a
32	CEBPB	chr12:120978431-120978736	IMR90	lung:	n/a	n/a
33	CEBPB	chr12:121005413-121005586	A549	lung:	n/a	n/a
34	CEBPB	chr12:121005452-121005471	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr12:120978122-120978778	K562	blood:	n/a	n/a
36	CEBPB	chr12:120988187-120988207	K562	blood:	n/a	n/a
37	CEBPB	chr12:120987973-120988531	HepG2	liver:	n/a	n/a
38	CEBPB	chr12:120987944-120988542	HepG2	liver:	n/a	n/a
39	CEBPB	chr12:120988131-120988437	HepG2	liver:	n/a	n/a
40	CEBPB	chr12:120984756-120985018	K562	blood:	n/a	chr12:120984870-120984881
41	CEBPB	chr12:120977147-120977444	K562	blood:	n/a	chr12:120977417-120977428
42	CEBPD	chr12:120978001-120978806	K562	blood:	n/a	chr12:120978611-120978622
43	CEBPD	chr12:120988271-120988406	HepG2	liver:	n/a	n/a
44	CEBPD	chr12:120977981-120978742	K562	blood:	n/a	chr12:120978611-120978622
45	CHD2	chr12:120978377-120978577	K562	blood:	n/a	n/a
46	CHD2	chr12:120988195-120988390	HepG2	liver:	n/a	n/a
47	CREB1	chr12:120978133-120978736	K562	blood:	n/a	n/a
48	CTCF	chr12:120987840-120987990	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr12:120978531-120978541	K562	blood:	n/a	n/a
50	CTCF	chr12:121011220-121011490	NB4	blood:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121017209-121017259	Caco-2	colon:	n/a
2	chr12:121017209-121017259	Caco-2	colon:	n/a
3	chr12:121017209-121017259	MCF10A-Er-Src	breast:	n/a
4	chr12:121015354-121015404	PFSK-1	brain:	n/a
5	chr12:121015354-121015404	CMK	blood:	n/a
6	chr12:121015354-121015404	AoSMC	blood vessel:	n/a
7	chr12:121017209-121017259	AoSMC	blood vessel:	n/a
8	chr12:120975110-120975160	SAEC	small airway:	n/a
9	chr12:121015354-121015404	GM12891	blood:	n/a
10	chr12:121015354-121015404	AG10803	skin:	n/a
11	chr12:120975110-120975160	NH-A	brain:	n/a
12	chr12:120975110-120975160	PFSK-1	brain:	n/a
13	chr12:120975110-120975160	HEEpiC	esophagus:	n/a
14	chr12:120975110-120975160	AG10803	skin:	n/a
15	chr12:121015354-121015404	A549	lung:	n/a
16	chr12:121017209-121017259	HepG2	liver:	n/a
17	chr12:121017209-121017259	IMR90	lung:	fetal
18	chr12:120975110-120975160	A549	lung:	n/a
19	chr12:120975110-120975160	NHBE	bronchial:	n/a
20	chr12:121015354-121015404	NT2-D1	testis:	n/a
21	chr12:120975110-120975160	BJ	skin:	n/a
22	chr12:121015354-121015404	HUVEC	blood vessel:	n/a
23	chr12:121015354-121015404	HCPEpiC	choroid plexus:	n/a
24	chr12:120975110-120975160	U87	brain:	n/a
25	chr12:121015354-121015404	BE2_C	brain:	n/a
26	chr12:121017209-121017259	GM19239	blood:	n/a
27	chr12:121015354-121015404	HCF	heart:	n/a
28	chr12:121015354-121015404	NHBE	bronchial:	n/a
29	chr12:121015354-121015404	K562	blood:	n/a
30	chr12:121017209-121017259	NHBE	bronchial:	n/a
31	chr12:121017209-121017259	RPTEC	kidney:	n/a
32	chr12:121017209-121017259	NT2-D1	testis:	n/a
33	chr12:121017209-121017259	U87	brain:	n/a
34	chr12:121017209-121017259	SK-N-MC	brain:	n/a
35	chr12:121017209-121017259	MCF-7	breast:	n/a
36	chr12:121015354-121015404	Jurkat	blood:	n/a
37	chr12:121015354-121015404	HCT-116	colon:	n/a
38	chr12:120975110-120975160	AG09319	gingival:	n/a
39	chr12:121015354-121015404	MCF10A-Er-Src	breast:	n/a
40	chr12:121015354-121015404	HepG2	liver:	n/a
41	chr12:120975110-120975160	HCF	heart:	n/a
42	chr12:120975110-120975160	AG04449	skin:	fetal
43	chr12:121015354-121015404	AG04450	lung:	fetal
44	chr12:120975110-120975160	AG04450	lung:	fetal
45	chr12:121017209-121017259	ECC-1	luminal epithelium:	n/a
46	chr12:121017209-121017259	AG04450	lung:	fetal
47	chr12:121015354-121015404	SAEC	small airway:	n/a
48	chr12:120975110-120975160	NHDF-neo	bronchial:	n/a
49	chr12:120975110-120975160	HRE	kidney:	n/a
50	chr12:121017209-121017259	HPAEpiC	pulmonary alveolar:	n/a

(count:90 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:121013694..121016998-chr12:121018035..121021501,4	MCF-7	breast:
2	chr12:120974437..120977304-chr12:120987855..120989624,2	K562	blood:
3	chr12:120932857..120935871-chr12:120969535..120974885,9	K562	blood:
4	chr12:121004910..121007310-chr12:121017847..121019409,2	MCF-7	breast:
5	chr12:120972092..120974371-chr12:120989548..120992065,2	K562	blood:
6	chr12:120728421..120732601-chr12:121010157..121013691,4	K562	blood:
7	chr12:120972728..120975672-chr12:120978556..120980555,2	MCF-7	breast:
8	chr12:120727845..120730639-chr12:120977473..120979829,2	K562	blood:
9	chr12:120972267..120974012-chr12:121013995..121016490,2	MCF-7	breast:
10	chr12:120925184..120926895-chr12:120973583..120975847,2	K562	blood:
11	chr12:121010694..121013304-chr12:121014886..121019250,4	MCF-7	breast:
12	chr12:120974713..120977550-chr12:122230607..122232618,2	MCF-7	breast:
13	chr12:120904864..120906819-chr12:120975505..120978250,2	K562	blood:
14	chr12:121007178..121009795-chr12:121014880..121017443,2	MCF-7	breast:
15	chr12:120974402..120975933-chr12:120988975..120990489,2	MCF-7	breast:
16	chr12:120932214..120934636-chr12:120985300..120987224,2	K562	blood:
17	chr12:120901679..120904558-chr12:121000718..121002863,2	K562	blood:
18	chr12:121002647..121005056-chr12:121017144..121019429,2	MCF-7	breast:
19	chr12:121000424..121002704-chr12:121007682..121009447,2	MCF-7	breast:
20	chr12:120999355..121001147-chr12:121014486..121017310,2	K562	blood:
21	chr12:120981016..120984297-chr12:120984439..120988147,3	K562	blood:
22	chr12:120994023..120996050-chr12:121018061..121019874,2	K562	blood:
23	chr12:121002663..121008355-chr12:121011703..121017024,9	MCF-7	breast:
24	chr12:120982785..120987053-chr12:120988717..120992540,5	MCF-7	breast:
25	chr12:120965545..120968418-chr12:120976359..120978449,2	K562	blood:
26	chr12:120971365..120974579-chr12:120980167..120982677,3	K562	blood:
27	chr12:120984923..120987191-chr12:121000937..121003289,2	K562	blood:
28	chr12:121000654..121003566-chr12:121008778..121010872,2	MCF-7	breast:
29	chr12:121009093..121011083-chr12:121018874..121020505,2	K562	blood:
30	chr12:121002647..121005056-chr12:121017144..121019429,2	MCF-7	breast:
31	chr12:120982785..120987053-chr12:120988717..120992540,5	MCF-7	breast:
32	chr12:120728052..120732322-chr12:120971723..120974902,6	MCF-7	breast:
33	chr12:120983886..120985471-chr12:120992501..120994406,2	K562	blood:
34	chr12:120883792..120886364-chr12:120977531..120979242,2	MCF-7	breast:
35	chr12:120966448..120968669-chr12:120990053..120993175,3	MCF-7	breast:
36	chr12:120974437..120977304-chr12:120987855..120989624,2	K562	blood:
37	chr12:120982370..120986191-chr12:120990238..120994001,4	K562	blood:
38	chr12:120905819..120908222-chr12:121018300..121020103,2	MCF-7	breast:
39	chr12:121000424..121002704-chr12:121007682..121009447,2	MCF-7	breast:
40	chr12:120727321..120729892-chr12:121009831..121012396,2	K562	blood:
41	chr12:120981347..120985529-chr12:120995456..120997460,3	K562	blood:
42	chr12:121002663..121008355-chr12:121011703..121017024,9	MCF-7	breast:
43	chr12:120936251..120938670-chr12:120977737..120980679,2	K562	blood:
44	chr12:120934821..120937142-chr12:120975702..120977289,2	K562	blood:
45	chr12:120727107..120731318-chr12:120971335..120975286,11	K562	blood:
46	chr12:120993976..120997018-chr12:120997627..120999554,4	MCF-7	breast:
47	chr12:120973210..120975541-chr12:121135063..121137387,2	K562	blood:
48	chr12:120985501..120987778-chr12:121016107..121018292,2	K562	blood:
49	chr12:120971743..120974059-chr12:121017467..121020168,3	MCF-7	breast:
50	chr12:120964646..120969249-chr12:120969286..120973951,11	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CABP1-1	chr12:121012940-121013491	NONHSAT031185
2	lnc-DYNLL1-2	chr12:120990290-120990480	l_746_chr12:120985636-120987727_prostate
3	lnc-DYNLL1-4	chr12:121000748-121001027	NONHSAT031182
4	lnc-DYNLL1-2	chr12:120990578-120991120	l_746_chr12:120985636-120987727_prostate
5	lnc-CABP1-1	chr12:121014393-121015050	NONHSAT031185
6	lnc-DYNLL1-4	chr12:120998642-120998689	NONHSAT031182
7	lnc-DYNLL1-2	chr12:120985637-120985820	l_746_chr12:120985636-120987727_prostate
8	lnc-DYNLL1-2	chr12:120986508-120987117	l_746_chr12:120985636-120987727_prostate
9	lnc-CABP1-1	chr12:121008006-121008034	NONHSAT031185
10	lnc-DYNLL1-2	chr12:120987545-120987727	l_746_chr12:120985636-120987727_prostate
11	lnc-CABP1-1	chr12:121013605-121013753	NONHSAT031185

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RNF10	hsa-miR-320a	chr12:121014513-121014535
2	RNF10	hsa-miR-320a	chr12:121014634-121014655

Variant related genes	Relation type
RNF10	TF binding region
COQ5	TF binding region
POP5	TF binding region
RNF10	CpG island
COQ5	CpG island
POP5	CpG island
ENSG00000139725	chromatin interactions
ENSG00000257218	chromatin interactions
ENSG00000022840	chromatin interactions
ENSG00000111775	chromatin interactions
ENSG00000248008	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000170855	chromatin interactions
ENSG00000111780	chromatin interactions
ENSG00000267100	chromatin interactions
ENSG00000129351	chromatin interactions
ENSG00000256364	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000110917	chromatin interactions
ENSG00000088986	chromatin interactions
ENSG00000110871	chromatin interactions
ENSG00000111786	chromatin interactions
ENSG00000167272	chromatin interactions

Extended variants
information (count: 1919 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1919 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61945887	chr12:120973732-120973733	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556896463	chr12:120973753-120973754	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs570480825	chr12:120973769-120973770	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs539548392	chr12:120973779-120973780	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs193069975	chr12:120973789-120973790	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs552993625	chr12:120973842-120973843	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs548094411	chr12:120973856-120973857	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs138120728	chr12:120973891-120973892	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs541725347	chr12:120973911-120973912	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs142141596	chr12:120973972-120973973	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs555849220	chr12:120974006-120974007	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs575047285	chr12:120974032-120974033	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs574435683	chr12:120974066-120974067	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs575994366	chr12:120974110-120974111	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs370623140	chr12:120974130-120974131	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs543967804	chr12:120974141-120974142	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs113454376	chr12:120974175-120974176	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs185391012	chr12:120974182-120974183	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs145888745	chr12:120974220-120974221	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs199838762	chr12:120974267-120974268	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs559297815	chr12:120974274-120974275	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs528498663	chr12:120974275-120974276	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs548305098	chr12:120974326-120974327	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs148229374	chr12:120974335-120974336	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs189154321	chr12:120974369-120974370	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs74737365	chr12:120974389-120974390	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs570698777	chr12:120974390-120974391	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs181472536	chr12:120974417-120974418	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs553134212	chr12:120974438-120974439	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs368186683	chr12:120974450-120974451	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs552043605	chr12:120974458-120974459	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs535406931	chr12:120974465-120974466	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs555090646	chr12:120974479-120974480	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs575033306	chr12:120974486-120974487	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs375707466	chr12:120974498-120974499	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs614226	chr12:120974510-120974511	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
37	rs371322841	chr12:120974527-120974528	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs375631535	chr12:120974597-120974598	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs577070937	chr12:120974620-120974621	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs185719637	chr12:120974622-120974623	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs545875246	chr12:120974623-120974624	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs188665418	chr12:120974627-120974628	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs368567464	chr12:120974646-120974647	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs181056468	chr12:120974756-120974757	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs546547148	chr12:120974788-120974789	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs141191211	chr12:120974795-120974796	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs530824582	chr12:120974911-120974912	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs150729346	chr12:120974916-120974917	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs150306336	chr12:120974949-120974950	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs564249972	chr12:120974956-120974957	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2222 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120971200-120973800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:120971400-120974000	Active TSS	Duodenum Mucosa	Duodenum
3	chr12:120971800-120973800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:120971800-120973800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:120971800-120973800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:120971800-120973800	Active TSS	Fetal Muscle Trunk	muscle
7	chr12:120971800-120973800	Active TSS	Psoas Muscle	Psoas
8	chr12:120971800-120973800	Active TSS	NHLF	lung
9	chr12:120971800-120974000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr12:120971800-120974000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:120971800-120974000	Active TSS	Colonic Mucosa	Colon
12	chr12:120971800-120974000	Active TSS	Left Ventricle	heart
13	chr12:120971800-120974000	Active TSS	Ovary	ovary
14	chr12:120971800-120974000	Active TSS	Right Ventricle	heart
15	chr12:120971800-120974000	Active TSS	GM12878-XiMat	blood
16	chr12:120971800-120974200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:120971800-120974200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr12:120971800-120974200	Active TSS	Stomach Mucosa	stomach
19	chr12:120971800-120974200	Active TSS	HSMMtube	muscle
20	chr12:120971800-120974400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr12:120971800-120974400	Active TSS	Right Atrium	heart
22	chr12:120971800-120974600	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr12:120972000-120973800	Active TSS	H1 Cell Line	embryonic stem cell
24	chr12:120972000-120973800	Active TSS	H9 Cell Line	embryonic stem cell
25	chr12:120972000-120974600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:120972000-120974800	Active TSS	Pancreas	Pancrea
27	chr12:120972000-120975000	Active TSS	Esophagus	oesophagus
28	chr12:120972000-120975000	Active TSS	Gastric	stomach
29	chr12:120972200-120973800	Active TSS	Aorta	Aorta
30	chr12:120972200-120974000	Active TSS	Lung	lung
31	chr12:120972200-120974200	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr12:120972800-120974200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr12:120972800-120975000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr12:120972800-120975600	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr12:120972800-120977400	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr12:120972800-120977600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:120973000-120973800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:120973000-120973800	Flanking Active TSS	Fetal Brain Female	brain
39	chr12:120973000-120974000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr12:120973000-120974000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr12:120973000-120974200	Flanking Active TSS	NH-A	brain
42	chr12:120973000-120974400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:120973000-120974400	Flanking Active TSS	Fetal Thymus	thymus
44	chr12:120973000-120974600	Flanking Active TSS	Fetal Brain Male	brain
45	chr12:120973000-120974600	Flanking Active TSS	HMEC	breast
46	chr12:120973000-120974800	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr12:120973000-120974800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:120973000-120975000	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr12:120973000-120975000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr12:120973000-120975200	Flanking Active TSS	Liver	Liver

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