Variant report

Variant	esv3374332
Chromosome Location	chr12:58147710-58151058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:539)
CpG islands
(count:367)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:539 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:58150504-58150804	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr12:58150190-58150294	K562	blood:	n/a	n/a
3	BHLHE40	chr12:58150476-58150894	K562	blood:	n/a	n/a
4	BHLHE40	chr12:58150531-58150973	GM12878	blood:	n/a	n/a
5	BHLHE40	chr12:58148315-58148857	K562	blood:	n/a	n/a
6	BHLHE40	chr12:58148512-58148931	GM12878	blood:	n/a	n/a
7	BRCA1	chr12:58150439-58150461	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr12:58148566-58148670	Hela-S3	cervix:	n/a	n/a
9	CBX3	chr12:58150424-58150993	K562	blood:	n/a	n/a
10	CCNT2	chr12:58148217-58149059	K562	blood:	n/a	chr12:58148712-58148721
11	CCNT2	chr12:58149284-58149867	K562	blood:	n/a	chr12:58149290-58149299
12	CCNT2	chr12:58150603-58150860	K562	blood:	n/a	chr12:58150662-58150671
13	CEBPB	chr12:58150195-58150362	K562	blood:	n/a	n/a
14	CEBPD	chr12:58148690-58149040	HepG2	liver:	n/a	n/a
15	CEBPD	chr12:58149494-58150091	HepG2	liver:	n/a	n/a
16	CHD1	chr12:58150407-58150806	GM12878	blood:	n/a	n/a
17	CHD2	chr12:58148171-58148765	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr12:58149655-58149707	HepG2	liver:	n/a	n/a
19	CHD2	chr12:58149941-58150082	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr12:58150597-58150804	HepG2	liver:	n/a	n/a
21	CHD2	chr12:58150900-58150935	K562	blood:	n/a	n/a
22	CHD2	chr12:58148468-58149067	GM12878	blood:	n/a	n/a
23	CHD2	chr12:58148480-58148680	K562	blood:	n/a	n/a
24	CHD2	chr12:58149726-58150891	GM12878	blood:	n/a	n/a
25	CHD2	chr12:58148425-58148781	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr12:58150397-58150597	K562	blood:	n/a	n/a
27	CREB1	chr12:58150531-58150917	A549	lung:	n/a	n/a
28	CTBP2	chr12:58150436-58150864	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTBP2	chr12:58148202-58148726	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr12:58150646-58150783	LNCaP	prostate:	n/a	n/a
31	CTCF	chr12:58150604-58150830	Fibrobl	skin:	n/a	n/a
32	CTCF	chr12:58150640-58150790	BE2_C	brain:	n/a	n/a
33	CTCF	chr12:58150620-58150770	AG04449	skin:	n/a	n/a
34	CTCF	chr12:58150660-58150810	AG09319	gingival:	n/a	n/a
35	CTCF	chr12:58150640-58150790	GM06990	blood:	n/a	n/a
36	CTCF	chr12:58150740-58150890	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr12:58150660-58150810	GM12869	blood:	n/a	n/a
38	CTCF	chr12:58150556-58150855	K562	blood:	n/a	n/a
39	CTCF	chr12:58150660-58150810	BJ	skin:	n/a	n/a
40	CTCF	chr12:58150527-58150783	A549	lung:	n/a	n/a
41	CTCF	chr12:58150586-58150842	Medullo	brain:	n/a	n/a
42	CTCF	chr12:58150640-58150790	GM12875	blood:	n/a	n/a
43	CTCF	chr12:58150469-58150927	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr12:58150640-58150790	GM12874	blood:	n/a	n/a
45	CTCF	chr12:58150640-58150790	AG10803	skin:	n/a	n/a
46	CTCF	chr12:58150545-58150883	GM19238	blood:	n/a	n/a
47	CTCF	chr12:58150580-58150730	MCF-7	breast:	n/a	n/a
48	CTCF	chr12:58150589-58150837	Gliobla	brain:	n/a	n/a
49	CTCF	chr12:58149940-58150090	HepG2	liver:	n/a	n/a
50	CTCF	chr12:58150660-58150810	HFF-Myc	foreskin:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:58148389-58148439	PFSK-1	brain:	n/a
2	chr12:58148389-58148439	PFSK-1	brain:	n/a
3	chr12:58150842-58150892	SK-N-MC	brain:	n/a
4	chr12:58148389-58148439	BJ	skin:	n/a
5	chr12:58149022-58149072	SK-N-SH_RA	brain:	n/a
6	chr12:58148389-58148439	HIPEpiC	eye:	n/a
7	chr12:58150842-58150892	HAEpiC	amniotic membrane:	n/a
8	chr12:58149384-58149434	NT2-D1	testis:	n/a
9	chr12:58150842-58150892	HNPCEpiC	eye:	n/a
10	chr12:58150842-58150892	HRCEpiC	kidney:	n/a
11	chr12:58147888-58147938	Hela-S3	cervix:	n/a
12	chr12:58149693-58149743	SKMC	muscle:	n/a
13	chr12:58147888-58147938	PFSK-1	brain:	n/a
14	chr12:58148389-58148439	HCT-116	colon:	n/a
15	chr12:58148389-58148439	ovcar-3	ovarian:	n/a
16	chr12:58147888-58147938	PrEC	prostate:	n/a
17	chr12:58148389-58148439	PrEC	prostate:	n/a
18	chr12:58149693-58149743	HEEpiC	esophagus:	n/a
19	chr12:58147888-58147938	A549	lung:	n/a
20	chr12:58147888-58147938	HIPEpiC	eye:	n/a
21	chr12:58149384-58149434	Jurkat	blood:	n/a
22	chr12:58150842-58150892	CMK	blood:	n/a
23	chr12:58150842-58150892	Jurkat	blood:	n/a
24	chr12:58149022-58149072	HL-60	blood:	n/a
25	chr12:58147888-58147938	NHBE	bronchial:	n/a
26	chr12:58149693-58149743	IMR90	lung:	fetal
27	chr12:58149384-58149434	HPAEpiC	pulmonary alveolar:	n/a
28	chr12:58150842-58150892	MCF10A-Er-Src	breast:	n/a
29	chr12:58149022-58149072	GM12878	blood:	n/a
30	chr12:58149693-58149743	HL-60	blood:	n/a
31	chr12:58148389-58148439	GM12892	blood:	n/a
32	chr12:58149022-58149072	HCPEpiC	choroid plexus:	n/a
33	chr12:58149384-58149434	MCF10A-Er-Src	breast:	n/a
34	chr12:58149384-58149434	HL-60	blood:	n/a
35	chr12:58147888-58147938	SKMC	muscle:	n/a
36	chr12:58147888-58147938	SK-N-SH	brain:	n/a
37	chr12:58148389-58148439	MCF10A-Er-Src	breast:	n/a
38	chr12:58150842-58150892	HRPEpiC	eye:	n/a
39	chr12:58148389-58148439	T-47D	breast:	n/a
40	chr12:58149384-58149434	HepG2	liver:	n/a
41	chr12:58149384-58149434	RPTEC	kidney:	n/a
42	chr12:58149384-58149434	GM06990	blood:	n/a
43	chr12:58147888-58147938	SK-N-MC	brain:	n/a
44	chr12:58147888-58147938	NB4	blood:	n/a
45	chr12:58149693-58149743	BJ	skin:	n/a
46	chr12:58149693-58149743	T-47D	breast:	n/a
47	chr12:58148389-58148439	HRE	kidney:	n/a
48	chr12:58149384-58149434	AG04449	skin:	fetal
49	chr12:58148389-58148439	HepG2	liver:	n/a
50	chr12:58150842-58150892	AG09319	gingival:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57915553..57917499-chr12:58144787..58147876,3	K562	blood:
2	chr12:57914860..57917603-chr12:58144909..58148802,3	K562	blood:
3	chr12:58013150..58015350-chr12:58146267..58147778,2	K562	blood:
4	chr12:57915614..57917377-chr12:58148904..58151083,2	K562	blood:
5	chr12:58148177..58150864-chr12:58195789..58197895,2	MCF-7	breast:
6	chr12:58146595..58149356-chr12:58175469..58178051,2	K562	blood:
7	chr12:58144944..58148202-chr12:58236897..58241575,4	MCF-7	breast:
8	chr12:58026019..58028946-chr12:58148453..58151531,3	K562	blood:
9	chr12:58150276..58151163-chr12:58298941..58299639,3	K562	blood:
10	chr12:57909291..57914221-chr12:58144639..58148673,6	K562	blood:
11	chr12:58144058..58148099-chr12:58238749..58241436,3	K562	blood:
12	chr12:58003234..58004876-chr12:58145695..58148256,2	K562	blood:
13	chr12:57912818..57918945-chr12:58145879..58149998,6	MCF-7	breast:
14	chr12:58150229..58151222-chr12:58176046..58176965,3	K562	blood:
15	chr12:58147914..58149817-chr12:124454309..124457254,2	MCF-7	breast:
16	chr12:58146971..58149952-chr17:56735164..56736689,2	MCF-7	breast:

No data

Variant related genes	Relation type
MARCH9	TF binding region
CDK4	TF binding region
MARCH9	CpG island
CDK4	CpG island
ENSG00000240771	chromatin interactions
ENSG00000135454	chromatin interactions
ENSG00000208028	chromatin interactions
ENSG00000224713	chromatin interactions
ENSG00000179195	chromatin interactions
ENSG00000270039	chromatin interactions
ENSG00000270095	chromatin interactions
ENSG00000123297	chromatin interactions
ENSG00000166987	chromatin interactions
ENSG00000270061	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000135502	chromatin interactions
ENSG00000119242	chromatin interactions
ENSG00000175215	chromatin interactions
ENSG00000175197	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536152779	chr12:58147712-58147713	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs2650063	chr12:58147733-58147734	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs557333809	chr12:58147775-58147776	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs187067362	chr12:58147776-58147777	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs140268350	chr12:58147843-58147844	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs191482271	chr12:58147848-58147849	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs565531633	chr12:58147882-58147883	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs554817253	chr12:58147914-58147915	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs373119698	chr12:58147965-58147966	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs183140614	chr12:58147966-58147967	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs188643697	chr12:58148019-58148020	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs36227552	chr12:58148051-58148052	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs574654878	chr12:58148124-58148125	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs192982929	chr12:58148146-58148147	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs74094231	chr12:58148155-58148156	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs573259826	chr12:58148220-58148221	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs140799806	chr12:58148271-58148272	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs544535759	chr12:58148316-58148317	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs562634121	chr12:58148318-58148319	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs574505238	chr12:58148345-58148346	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs78765749	chr12:58148368-58148369	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs376846351	chr12:58148430-58148431	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs11172322	chr12:58148454-58148455	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs73338245	chr12:58148488-58148489	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs549843060	chr12:58148494-58148495	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs369836598	chr12:58148498-58148499	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs543615683	chr12:58148563-58148564	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs557239665	chr12:58148574-58148575	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs577023701	chr12:58148644-58148645	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs77796579	chr12:58148692-58148693	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs73338246	chr12:58148695-58148696	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs63680463	chr12:58148721-58148722	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs398076667	chr12:58148723-58148724	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs551304972	chr12:58148736-58148737	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs185519463	chr12:58148739-58148740	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs2856294	chr12:58148791-58148792	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs540060110	chr12:58148966-58148967	Bivalent/Poised TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs2650062	chr12:58149119-58149120	Bivalent/Poised TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs557950057	chr12:58149134-58149135	Bivalent/Poised TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs2650061	chr12:58149212-58149213	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs2650060	chr12:58149238-58149239	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs573052467	chr12:58149307-58149308	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs2518691	chr12:58149342-58149343	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs3021367	chr12:58149370-58149371	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs2904914	chr12:58149418-58149419	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs1689582	chr12:58149446-58149447	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs555035663	chr12:58149488-58149489	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs3021368	chr12:58149497-58149498	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs3021369	chr12:58149504-58149505	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs187763229	chr12:58149659-58149660	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:731 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58146200-58147800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:58146200-58148000	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr12:58146200-58148000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:58146200-58148200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:58146200-58148200	Weak transcription	Lung	lung
6	chr12:58146200-58148400	Weak transcription	Small Intestine	intestine
7	chr12:58146200-58148600	Weak transcription	Aorta	Aorta
8	chr12:58146400-58148200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:58146400-58148800	Flanking Active TSS	K562	blood
10	chr12:58146600-58148200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:58146600-58148200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:58146600-58148200	Weak transcription	Esophagus	oesophagus
13	chr12:58146600-58148200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:58146600-58148200	Weak transcription	Gastric	stomach
15	chr12:58146600-58148200	Weak transcription	Left Ventricle	heart
16	chr12:58146600-58148200	Weak transcription	Spleen	Spleen
17	chr12:58146600-58148400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:58146600-58148400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:58146800-58147800	Enhancers	Primary hematopoietic stem cells	blood
20	chr12:58146800-58147800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr12:58146800-58147800	Weak transcription	Right Ventricle	heart
22	chr12:58146800-58148000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:58146800-58148000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr12:58146800-58148000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:58146800-58148000	Enhancers	Primary T cells from cord blood	blood
26	chr12:58146800-58148000	Enhancers	Hela-S3	cervix
27	chr12:58146800-58148200	Enhancers	Primary B cells from cord blood	blood
28	chr12:58146800-58148200	Enhancers	Primary B cells from peripheral blood	blood
29	chr12:58146800-58148200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr12:58146800-58148200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr12:58146800-58148200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:58146800-58148200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr12:58146800-58148200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr12:58146800-58148200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:58146800-58148200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:58146800-58148200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:58146800-58148200	Weak transcription	Brain Substantia Nigra	brain
38	chr12:58146800-58148200	Weak transcription	Colonic Mucosa	Colon
39	chr12:58146800-58148200	Enhancers	Fetal Intestine Large	intestine
40	chr12:58146800-58148200	Enhancers	Fetal Stomach	stomach
41	chr12:58146800-58148200	Enhancers	Fetal Thymus	thymus
42	chr12:58146800-58148200	Weak transcription	Psoas Muscle	Psoas
43	chr12:58146800-58148200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr12:58146800-58148200	Weak transcription	Right Atrium	heart
45	chr12:58146800-58148200	Enhancers	Thymus	Thymus
46	chr12:58146800-58148200	Enhancers	HMEC	breast
47	chr12:58146800-58148400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:58146800-58148400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:58146800-58148400	Weak transcription	Ovary	ovary
50	chr12:58147000-58147800	Enhancers	Fetal Kidney	kidney

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