Variant report

Variant	nsv560493
Chromosome Location	chr12:123467325-123479623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:480)
CpG islands
(count:1221)
Chromatin interactive
region (count:32)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:480 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:123477871-123478411	GM12878	blood:	n/a	n/a
2	ATF2	chr12:123477732-123478417	GM12878	blood:	n/a	n/a
3	BATF	chr12:123477946-123478402	GM12878	blood:	n/a	n/a
4	BATF	chr12:123477739-123478378	GM12878	blood:	n/a	n/a
5	BCL11A	chr12:123477972-123478381	GM12878	blood:	n/a	chr12:123478340-123478349
6	BCL3	chr12:123477979-123478370	GM12878	blood:	n/a	chr12:123478340-123478349
7	BCL3	chr12:123478021-123478328	GM12878	blood:	n/a	n/a
8	BCLAF1	chr12:123477810-123478340	GM12878	blood:	n/a	n/a
9	BCLAF1	chr12:123477931-123478415	GM12878	blood:	n/a	chr12:123478340-123478349
10	BHLHE40	chr12:123477738-123478404	GM12878	blood:	n/a	n/a
11	BHLHE40	chr12:123468828-123469561	HepG2	liver:	n/a	n/a
12	CCNT2	chr12:123468685-123468870	K562	blood:	n/a	n/a
13	CEBPD	chr12:123469084-123469460	HepG2	liver:	n/a	n/a
14	CEBPD	chr12:123468640-123468966	HepG2	liver:	n/a	n/a
15	CHD2	chr12:123469420-123469426	HepG2	liver:	n/a	n/a
16	CHD2	chr12:123477831-123478326	GM12878	blood:	n/a	n/a
17	CTCF	chr12:123473920-123474070	GM12871	blood:	n/a	chr12:123473959-123473968
18	CTCF	chr12:123474960-123475110	NHEK	skin:	n/a	n/a
19	CTCF	chr12:123473900-123474050	HBMEC	blood vessel:	n/a	chr12:123473959-123473968
20	CTCF	chr12:123467504-123467639	GM19240	blood:	n/a	chr12:123467550-123467571 chr12:123467561-123467570 chr12:123467555-123467573
21	CTCF	chr12:123473945-123474006	HepG2	liver:	n/a	chr12:123473959-123473968
22	CTCF	chr12:123467487-123467629	GM12878	blood:	n/a	chr12:123467550-123467571 chr12:123467561-123467570 chr12:123467555-123467573
23	CTCF	chr12:123473880-123474030	GM12868	blood:	n/a	chr12:123473959-123473968
24	CTCF	chr12:123473860-123474010	MCF-7	breast:	n/a	chr12:123473959-123473968
25	CTCF	chr12:123467539-123467603	MCF-7	breast:	n/a	chr12:123467550-123467571 chr12:123467561-123467570 chr12:123467555-123467573
26	CTCF	chr12:123474900-123475050	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr12:123473920-123474070	BE2_C	brain:	n/a	chr12:123473959-123473968
28	CTCF	chr12:123473920-123474070	HRE	kidney:	n/a	chr12:123473959-123473968
29	CTCF	chr12:123473880-123474030	HepG2	liver:	n/a	chr12:123473959-123473968
30	CTCF	chr12:123467535-123467638	H1-hESC	embryonic stem cell:	n/a	chr12:123467550-123467571 chr12:123467561-123467570 chr12:123467555-123467573
31	CTCF	chr12:123473840-123473990	BJ	skin:	n/a	chr12:123473959-123473968
32	CTCF	chr12:123479520-123479670	GM06990	blood:	n/a	n/a
33	CTCF	chr12:123473916-123474022	GM12878	blood:	n/a	chr12:123473959-123473968
34	CTCF	chr12:123473780-123473930	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr12:123473880-123474030	NB4	blood:	n/a	chr12:123473959-123473968
36	CTCF	chr12:123473900-123474050	GM12875	blood:	n/a	chr12:123473959-123473968
37	CTCF	chr12:123473880-123474030	HCPEpiC	choroid plexus:	n/a	chr12:123473959-123473968
38	CTCF	chr12:123473900-123474050	HAc	cerebellar:	n/a	chr12:123473959-123473968
39	CTCF	chr12:123473860-123474010	HCFaa	heart:	n/a	chr12:123473959-123473968
40	CTCF	chr12:123473880-123474030	GM12874	blood:	n/a	chr12:123473959-123473968
41	CTCF	chr12:123473860-123474010	HRPEpiC	eye:	n/a	chr12:123473959-123473968
42	CTCF	chr12:123473880-123474030	GM12867	blood:	n/a	chr12:123473959-123473968
43	CTCF	chr12:123467460-123467610	SK-N-SH_RA	brain:	n/a	chr12:123467550-123467571 chr12:123467561-123467570 chr12:123467555-123467573
44	CTCF	chr12:123473901-123474004	IMR90	lung:	n/a	chr12:123473959-123473968
45	CTCF	chr12:123473840-123473990	GM12873	blood:	n/a	chr12:123473959-123473968
46	CTCF	chr12:123473926-123474019	Hela-S3	cervix:	n/a	chr12:123473959-123473968
47	CTCF	chr12:123473900-123474050	Hela-S3	cervix:	n/a	chr12:123473959-123473968
48	CTCF	chr12:123473869-123474024	HepG2	liver:	n/a	chr12:123473959-123473968
49	CTCF	chr12:123473800-123473950	GM06990	blood:	n/a	n/a
50	CTCF	chr12:123467541-123467637	GM12891	blood:	n/a	chr12:123467550-123467571 chr12:123467561-123467570 chr12:123467555-123467573

(count:1221 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123471521-123471571	NHDF-neo	bronchial:	n/a
2	chr12:123471521-123471571	NHDF-neo	bronchial:	n/a
3	chr12:123471521-123471571	T-47D	breast:	n/a
4	chr12:123477147-123477197	AG04449	skin:	fetal
5	chr12:123477107-123477157	HUVEC	blood vessel:	n/a
6	chr12:123469284-123469334	HUVEC	blood vessel:	n/a
7	chr12:123471521-123471571	AG09319	gingival:	n/a
8	chr12:123471183-123471233	HIPEpiC	eye:	n/a
9	chr12:123476380-123476430	MCF10A-Er-Src	breast:	n/a
10	chr12:123469284-123469334	BJ	skin:	n/a
11	chr12:123468780-123468830	ProgFib	skin:	n/a
12	chr12:123471183-123471233	U87	brain:	n/a
13	chr12:123467390-123467440	Jurkat	blood:	n/a
14	chr12:123469669-123469719	Caco-2	colon:	n/a
15	chr12:123477123-123477173	PFSK-1	brain:	n/a
16	chr12:123472150-123472200	BE2_C	brain:	n/a
17	chr12:123473974-123474024	SK-N-SH	brain:	n/a
18	chr12:123471054-123471104	IMR90	lung:	fetal
19	chr12:123467390-123467440	HIPEpiC	eye:	n/a
20	chr12:123469284-123469334	SK-N-SH	brain:	n/a
21	chr12:123469284-123469334	GM19239	blood:	n/a
22	chr12:123472150-123472200	GM06990	blood:	n/a
23	chr12:123469284-123469334	HMEC	breast:	n/a
24	chr12:123473974-123474024	AG10803	skin:	n/a
25	chr12:123470916-123470966	SK-N-SH	brain:	n/a
26	chr12:123471521-123471571	HUVEC	blood vessel:	n/a
27	chr12:123476380-123476430	LNCaP	prostate:	n/a
28	chr12:123476380-123476430	PANC-1	pancreas:	n/a
29	chr12:123468780-123468830	PrEC	prostate:	n/a
30	chr12:123469507-123469557	ECC-1	luminal epithelium:	n/a
31	chr12:123469284-123469334	HCF	heart:	n/a
32	chr12:123476443-123476493	ovcar-3	ovarian:	n/a
33	chr12:123472150-123472200	HepG2	liver:	n/a
34	chr12:123472844-123472894	NHDF-neo	bronchial:	n/a
35	chr12:123468780-123468830	AG09309	skin:	n/a
36	chr12:123473974-123474024	CMK	blood:	n/a
37	chr12:123469507-123469557	GM19239	blood:	n/a
38	chr12:123472844-123472894	Jurkat	blood:	n/a
39	chr12:123469669-123469719	T-47D	breast:	n/a
40	chr12:123470916-123470966	HUVEC	blood vessel:	n/a
41	chr12:123467390-123467440	T-47D	breast:	n/a
42	chr12:123472150-123472200	AoSMC	blood vessel:	n/a
43	chr12:123470623-123470673	NHDF-neo	bronchial:	n/a
44	chr12:123471054-123471104	HPAEpiC	pulmonary alveolar:	n/a
45	chr12:123472150-123472200	SK-N-SH	brain:	n/a
46	chr12:123468780-123468830	HEEpiC	esophagus:	n/a
47	chr12:123469507-123469557	U87	brain:	n/a
48	chr12:123471521-123471571	Caco-2	colon:	n/a
49	chr12:123469507-123469557	BE2_C	brain:	n/a
50	chr12:123473974-123474024	MCF-7	breast:	n/a

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123473528..123475849-chr12:123479153..123481773,2	K562	blood:
2	chr12:123469171..123471248-chr12:123684974..123686845,2	K562	blood:
3	chr12:123356737..123358240-chr12:123467000..123469929,2	MCF-7	breast:
4	chr12:123476420..123479268-chr12:123480429..123483932,4	K562	blood:
5	chr12:123467368..123470978-chr12:123525099..123527744,3	K562	blood:
6	chr12:123467906..123470215-chr12:123495247..123497244,2	K562	blood:
7	chr12:123465824..123467766-chr12:123717384..123719608,2	MCF-7	breast:
8	chr12:123467378..123471463-chr12:123484194..123486166,3	MCF-7	breast:
9	chr12:123470879..123473811-chr12:123715857..123717754,3	K562	blood:
10	chr12:123469032..123471248-chr12:123684974..123687831,2	K562	blood:
11	chr12:123464088..123467689-chr12:123493302..123498202,6	MCF-7	breast:
12	chr12:123467419..123469042-chr12:123713866..123715628,2	K562	blood:
13	chr12:123474497..123476026-chr12:123715304..123717447,2	K562	blood:
14	chr12:123468264..123470538-chr12:123712723..123715235,2	MCF-7	breast:
15	chr12:123349459..123352177-chr12:123465556..123468107,2	K562	blood:
16	chr12:123467975..123470307-chr12:123638971..123640597,2	MCF-7	breast:
17	chr12:123470251..123473502-chr12:123478198..123482037,4	MCF-7	breast:
18	chr12:123477375..123481349-chr12:123715965..123717558,3	K562	blood:
19	chr12:123470251..123473502-chr12:123478198..123482037,4	MCF-7	breast:
20	chr12:123468360..123468894-chr5:1799414..1799925,2	NB4	blood:
21	chr12:123468080..123470439-chr12:123573373..123575937,2	K562	blood:
22	chr12:123463210..123468211-chr12:123716151..123721062,7	MCF-7	breast:
23	chr12:123474530..123476275-chr12:123483617..123485746,2	K562	blood:
24	chr12:123469090..123471551-chr12:123505815..123507895,2	MCF-7	breast:
25	chr12:123478491..123480718-chr12:123715406..123717168,2	MCF-7	breast:
26	chr12:123341647..123346113-chr12:123465146..123467618,4	K562	blood:
27	chr12:123479422..123482791-chr12:123483500..123486744,3	K562	blood:
28	chr12:123472287..123474627-chr12:123497209..123499619,2	K562	blood:
29	chr12:123470053..123472975-chr12:123718822..123721771,2	K562	blood:
30	chr12:123468471..123472230-chr12:123634537..123637693,4	K562	blood:
31	chr12:123465881..123468570-chr12:123716034..123719414,3	K562	blood:
32	chr12:123473528..123475849-chr12:123479153..123481773,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OGFOD2-1	chr12:123467167-123467461	NONHSAT031554
2	lnc-OGFOD2-1	chr12:123467167-123467460	NR_103512
3	lnc-OGFOD2-1	chr12:123467167-123467453	NONHSAT031551

No data

Variant related genes	Relation type
ABCB9	TF binding region
ABCB9	CpG island
ENSG00000171421	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000130787	chromatin interactions
ENSG00000090975	chromatin interactions
ENSG00000265526	chromatin interactions
ENSG00000256152	chromatin interactions
ENSG00000130921	chromatin interactions

Extended variants
information (count: 508 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:508 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11546826	chr12:123467325-123467326	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543139871	chr12:123467326-123467327	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
3	rs139910298	chr12:123467345-123467346	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
4	rs574124429	chr12:123467387-123467388	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
5	rs541617575	chr12:123467408-123467409	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
6	rs559755544	chr12:123467438-123467439	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
7	rs57110420	chr12:123467443-123467444	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs545419094	chr12:123467451-123467452	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
9	rs563704865	chr12:123467514-123467515	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs368014202	chr12:123467518-123467519	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs564626197	chr12:123467534-123467535	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs549466218	chr12:123467579-123467580	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs36081931	chr12:123467595-123467596	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs567767028	chr12:123467637-123467638	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs529031433	chr12:123467678-123467679	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs547576232	chr12:123467682-123467683	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs78486954	chr12:123467763-123467764	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs565824635	chr12:123467765-123467766	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs372197689	chr12:123467810-123467811	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs550939420	chr12:123467819-123467820	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs569345267	chr12:123467879-123467880	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs193182577	chr12:123467932-123467933	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs185493856	chr12:123467988-123467989	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs573690588	chr12:123468014-123468015	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs534898673	chr12:123468094-123468095	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs1057765	chr12:123468233-123468234	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs553580554	chr12:123468257-123468258	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs578172717	chr12:123468258-123468259	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs545754366	chr12:123468308-123468309	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs71456779	chr12:123468410-123468411	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs563990438	chr12:123468420-123468421	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs575679587	chr12:123468466-123468467	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs543043817	chr12:123468492-123468493	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs561183656	chr12:123468514-123468515	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs558769391	chr12:123468542-123468543	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs377334771	chr12:123468545-123468546	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs149850639	chr12:123468546-123468547	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs115743690	chr12:123468557-123468558	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs145886845	chr12:123468572-123468573	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs368977799	chr12:123468574-123468575	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs372570296	chr12:123468584-123468585	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs536608726	chr12:123468585-123468586	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs549005858	chr12:123468618-123468619	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs567248120	chr12:123468636-123468637	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs149022284	chr12:123468657-123468658	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs553277107	chr12:123468689-123468690	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs578194523	chr12:123468703-123468704	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs539260739	chr12:123468706-123468707	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs67306085	chr12:123468733-123468734	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs576014211	chr12:123468781-123468782	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	5 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
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
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
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
head and neck squamous cell carcinoma	24351288	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:616 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123461400-123473200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:123465600-123467400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr12:123465800-123468200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:123466000-123467400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:123466000-123467600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:123466000-123469800	Enhancers	Fetal Heart	heart
7	chr12:123466200-123467400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:123466200-123467400	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
9	chr12:123466200-123467400	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
10	chr12:123466200-123467400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
11	chr12:123466200-123467400	Flanking Active TSS	HSMM	muscle
12	chr12:123466200-123467600	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
13	chr12:123466200-123467800	Enhancers	Fetal Brain Male	brain
14	chr12:123466200-123468000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:123466200-123468000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
16	chr12:123466200-123468600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:123466400-123467400	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:123466400-123467400	Transcr. at gene 5' and 3'	Thymus	Thymus
19	chr12:123466400-123467600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
20	chr12:123466400-123468000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:123466400-123468000	Weak transcription	Fetal Kidney	kidney
22	chr12:123466400-123468000	Genic enhancers	Stomach Mucosa	stomach
23	chr12:123466400-123468200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:123466400-123468200	Genic enhancers	Placenta Amnion	Placenta Amnion
25	chr12:123466400-123468800	Genic enhancers	K562	blood
26	chr12:123466400-123470200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
27	chr12:123466400-123473400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:123466600-123467400	Enhancers	Psoas Muscle	Psoas
29	chr12:123466600-123467400	Genic enhancers	Right Ventricle	heart
30	chr12:123466600-123467600	Enhancers	Left Ventricle	heart
31	chr12:123466600-123467800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:123466600-123468000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:123466600-123468000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:123466600-123468000	Genic enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:123466600-123468000	Genic enhancers	Fetal Lung	lung
36	chr12:123466600-123468000	Transcr. at gene 5' and 3'	HepG2	liver
37	chr12:123466600-123468200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:123466600-123468200	Genic enhancers	Gastric	stomach
39	chr12:123466600-123468400	Genic enhancers	Esophagus	oesophagus
40	chr12:123466600-123469000	Genic enhancers	Pancreas	Pancrea
41	chr12:123466600-123469200	Genic enhancers	Primary B cells from peripheral blood	blood
42	chr12:123466600-123469400	Enhancers	NHDF-Ad	bronchial
43	chr12:123466600-123469600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:123466600-123469800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:123466600-123470000	Genic enhancers	Lung	lung
46	chr12:123466600-123470000	Enhancers	Right Atrium	heart
47	chr12:123466600-123470600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:123466600-123471400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr12:123466600-123483400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr12:123466800-123467400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood

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