Variant report

Variant	esv3334570
Chromosome Location	chr12:121077719-121079967
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:121077969-121078324	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr12:121077955-121078341	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr12:121079066-121079649	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr12:121079155-121079493	K562	blood:	n/a	n/a
5	CBX3	chr12:121079185-121079499	K562	blood:	n/a	n/a
6	CCNT2	chr12:121078132-121079332	K562	blood:	n/a	n/a
7	CEBPB	chr12:121079181-121079367	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD1	chr12:121079127-121079482	H1-hESC	embryonic stem cell:	n/a	chr12:121079176-121079183 chr12:121079220-121079230
9	CHD2	chr12:121079173-121079528	H1-hESC	embryonic stem cell:	n/a	chr12:121079176-121079183 chr12:121079220-121079230
10	CHD2	chr12:121079266-121079376	K562	blood:	n/a	n/a
11	CREB1	chr12:121077848-121078507	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr12:121078120-121078388	A549	lung:	n/a	n/a
13	CREB1	chr12:121077742-121078525	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr12:121077632-121078448	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr12:121078840-121078990	GM12874	blood:	n/a	n/a
16	CTCF	chr12:121078440-121078590	SAEC	small airway:	n/a	n/a
17	CTCF	chr12:121078220-121078370	BE2_C	brain:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
18	CTCF	chr12:121078200-121078350	HCFaa	heart:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
19	CTCF	chr12:121078160-121078310	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr12:121079332-121079497	MCF-7	breast:	n/a	chr12:121079471-121079484
21	CTCF	chr12:121078166-121078358	A549	lung:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
22	CTCF	chr12:121078286-121078287	Lung_OC	lung:	n/a	n/a
23	CTCF	chr12:121079300-121079450	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr12:121078180-121078330	HRE	kidney:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
25	CTCF	chr12:121078144-121078415	GM13977	blood:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
26	CTCF	chr12:121077951-121078072	GM12891	blood:	n/a	n/a
27	CTCF	chr12:121078240-121078390	WERI-Rb-1	eye:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
28	CTCF	chr12:121078180-121078330	AoAF	blood vessel:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
29	CTCF	chr12:121078220-121078370	GM12872	blood:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
30	CTCF	chr12:121077989-121078029	GM19239	blood:	n/a	n/a
31	CTCF	chr12:121078200-121078350	HUVEC	blood vessel:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
32	CTCF	chr12:121079380-121079530	SK-N-SH_RA	brain:	n/a	chr12:121079471-121079484
33	CTCF	chr12:121078000-121078150	HFF	foreskin:	n/a	n/a
34	CTCF	chr12:121077940-121078090	MCF-7	breast:	n/a	n/a
35	CTCF	chr12:121078200-121078350	NHEK	skin:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
36	CTCF	chr12:121078220-121078370	A549	lung:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
37	CTCF	chr12:121078180-121078330	HEK293	kidney:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
38	CTCF	chr12:121078195-121078363	A549	lung:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
39	CTCF	chr12:121078260-121078410	HCT-116	colon:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
40	CTCF	chr12:121078857-121079004	GM12892	blood:	n/a	n/a
41	CTCF	chr12:121078774-121079100	K562	blood:	n/a	n/a
42	CTCF	chr12:121079420-121079570	HCM	heart:	n/a	chr12:121079471-121079484
43	CTCF	chr12:121078200-121078350	Caco-2	colon:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
44	CTCF	chr12:121078180-121078330	HepG2	liver:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
45	CTCF	chr12:121079440-121079461	K562	blood:	n/a	n/a
46	CTCF	chr12:121078220-121078370	GM12873	blood:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
47	CTCF	chr12:121078860-121079010	GM12868	blood:	n/a	n/a
48	CTCF	chr12:121078180-121078330	GM12871	blood:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
49	CTCF	chr12:121077840-121077990	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr12:121078180-121078330	GM12875	blood:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121078658-121078708	HAEpiC	amniotic membrane:	n/a
2	chr12:121078090-121078140	HEK293	kidney:	embryo
3	chr12:121079482-121079532	HRE	kidney:	n/a
4	chr12:121078022-121078072	GM12892	blood:	n/a
5	chr12:121078214-121078264	AG09319	gingival:	n/a
6	chr12:121079482-121079532	BJ	skin:	n/a
7	chr12:121078422-121078472	Hepatocyte	liver:	n/a
8	chr12:121078658-121078708	K562	blood:	n/a
9	chr12:121078022-121078072	IMR90	lung:	fetal
10	chr12:121079482-121079532	MCF10A-Er-Src	breast:	n/a
11	chr12:121078022-121078072	SK-N-SH	brain:	n/a
12	chr12:121079482-121079532	NT2-D1	testis:	n/a
13	chr12:121078090-121078140	NHDF-neo	bronchial:	n/a
14	chr12:121079096-121079146	HepG2	liver:	n/a
15	chr12:121078196-121078246	Jurkat	blood:	n/a
16	chr12:121078022-121078072	LNCaP	prostate:	n/a
17	chr12:121078658-121078708	HRCEpiC	kidney:	n/a
18	chr12:121078022-121078072	HCPEpiC	choroid plexus:	n/a
19	chr12:121078090-121078140	HCM	heart:	n/a
20	chr12:121078196-121078246	HUVEC	blood vessel:	n/a
21	chr12:121078422-121078472	HCT-116	colon:	n/a
22	chr12:121079096-121079146	SAEC	small airway:	n/a
23	chr12:121078214-121078264	NT2-D1	testis:	n/a
24	chr12:121078214-121078264	HepG2	liver:	n/a
25	chr12:121078196-121078246	HL-60	blood:	n/a
26	chr12:121078196-121078246	GM06990	blood:	n/a
27	chr12:121079543-121079593	NHBE	bronchial:	n/a
28	chr12:121079543-121079593	A549	lung:	n/a
29	chr12:121078422-121078472	ProgFib	skin:	n/a
30	chr12:121078658-121078708	AG09319	gingival:	n/a
31	chr12:121078422-121078472	HPAEpiC	pulmonary alveolar:	n/a
32	chr12:121079543-121079593	GM12878	blood:	n/a
33	chr12:121078214-121078264	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:121078214-121078264	SK-N-SH_RA	brain:	n/a
35	chr12:121079482-121079532	AG04449	skin:	fetal
36	chr12:121078090-121078140	SKMC	muscle:	n/a
37	chr12:121078090-121078140	T-47D	breast:	n/a
38	chr12:121078214-121078264	HEEpiC	esophagus:	n/a
39	chr12:121079482-121079532	ECC-1	luminal epithelium:	n/a
40	chr12:121078422-121078472	PrEC	prostate:	n/a
41	chr12:121078090-121078140	AG04449	skin:	fetal
42	chr12:121079543-121079593	K562	blood:	n/a
43	chr12:121078214-121078264	IMR90	lung:	fetal
44	chr12:121078090-121078140	HNPCEpiC	eye:	n/a
45	chr12:121079482-121079532	HL-60	blood:	n/a
46	chr12:121078422-121078472	GM19239	blood:	n/a
47	chr12:121078422-121078472	GM12891	blood:	n/a
48	chr12:121078422-121078472	HRE	kidney:	n/a
49	chr12:121078422-121078472	SK-N-SH	brain:	n/a
50	chr12:121078214-121078264	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121074234..121078810-chr12:121086912..121091656,5	K562	blood:
2	chr12:121077883..121078713-chr12:121409304..121410103,2	MCF-7	breast:
3	chr12:121077855..121079516-chr12:121124357..121126482,2	MCF-7	breast:
4	chr12:121071082..121074482-chr12:121074766..121077938,3	K562	blood:
5	chr12:121079422..121081795-chr12:121123452..121125131,2	K562	blood:
6	chr12:120729224..120730765-chr12:121078974..121080739,2	K562	blood:
7	chr12:121019025..121020943-chr12:121076838..121078875,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POP5-1	chr12:121077853-121078306	NONHSAT031188
2	lnc-POP5-1	chr12:121079266-121079394	ENSG00000256008.1
3	lnc-POP5-1	chr12:121077853-121077956	ENSG00000256008.1

Variant related genes	Relation type
CABP1	TF binding region
ENSG00000256008	TF binding region
CABP1	CpG island
ENSG00000256008	CpG island
ENSG00000167272	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000157782	chromatin interactions
ENSG00000110917	chromatin interactions
ENSG00000272214	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs693074	chr12:121077728-121077729	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566410797	chr12:121077735-121077736	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs555541390	chr12:121077743-121077744	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs112512289	chr12:121077840-121077841	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs534753630	chr12:121077862-121077863	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs572376601	chr12:121077873-121077874	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs76313965	chr12:121077886-121077887	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
8	rs568096588	chr12:121077889-121077890	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
9	rs558200006	chr12:121078000-121078001	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
10	rs537051254	chr12:121078032-121078033	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
11	rs79411402	chr12:121078088-121078089	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
12	rs539211251	chr12:121078126-121078127	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
13	rs369307903	chr12:121078286-121078287	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
14	rs572438443	chr12:121078361-121078362	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs541559696	chr12:121078593-121078594	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs561228486	chr12:121078617-121078618	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs574736792	chr12:121078652-121078653	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs111271980	chr12:121078655-121078656	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs543428199	chr12:121078762-121078763	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs563214762	chr12:121078865-121078866	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs532302030	chr12:121078887-121078888	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs17852741	chr12:121078907-121078908	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs111881533	chr12:121078986-121078987	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs551941174	chr12:121079015-121079016	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs559541093	chr12:121079032-121079033	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs528172254	chr12:121079048-121079049	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs548226583	chr12:121079052-121079053	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs568077035	chr12:121079088-121079089	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs117649554	chr12:121079153-121079154	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs550621676	chr12:121079203-121079204	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs570347900	chr12:121079248-121079249	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs188962234	chr12:121079276-121079277	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs543098427	chr12:121079277-121079278	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs558880585	chr12:121079279-121079280	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs563364264	chr12:121079352-121079353	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs181553278	chr12:121079412-121079413	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs186730031	chr12:121079429-121079430	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs112373576	chr12:121079451-121079452	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs115265690	chr12:121079459-121079460	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs574857763	chr12:121079482-121079483	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs543391155	chr12:121079499-121079500	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs556972767	chr12:121079514-121079515	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs576720080	chr12:121079515-121079516	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs542798270	chr12:121079519-121079520	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs545740015	chr12:121079570-121079571	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs559392777	chr12:121079703-121079704	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs191118789	chr12:121079735-121079736	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs200584059	chr12:121079738-121079739	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs6490299	chr12:121079798-121079799	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs374682576	chr12:121079801-121079802	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	22522925	CNVD

Chromatin state (count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121076600-121078000	Weak transcription	Pancreas	Pancrea
2	chr12:121077400-121077800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:121077400-121078200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:121077600-121077800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
5	chr12:121077600-121077800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr12:121077600-121077800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
7	chr12:121077600-121077800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr12:121077600-121077800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
9	chr12:121077600-121077800	Enhancers	Primary B cells from cord blood	blood
10	chr12:121077600-121077800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:121077600-121077800	Bivalent Enhancer	Fetal Brain Female	brain
12	chr12:121077600-121077800	Bivalent Enhancer	K562	blood
13	chr12:121077600-121078000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
14	chr12:121077600-121078000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:121077600-121078000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr12:121077600-121078000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr12:121077600-121078000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
18	chr12:121077600-121078000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:121077600-121078000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
20	chr12:121077600-121078000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:121077600-121078000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
22	chr12:121077600-121078200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:121077600-121078200	Bivalent Enhancer	Fetal Lung	lung
24	chr12:121077600-121078400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr12:121077600-121079600	Active TSS	H9 Cell Line	embryonic stem cell
26	chr12:121077600-121079600	Active TSS	Brain Angular Gyrus	brain
27	chr12:121077800-121078000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:121077800-121078000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:121077800-121078000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:121077800-121078000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr12:121077800-121078000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr12:121077800-121078000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
33	chr12:121077800-121078000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
34	chr12:121077800-121078000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr12:121077800-121078000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
36	chr12:121077800-121078000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
37	chr12:121077800-121078000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:121077800-121078000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:121077800-121078000	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
40	chr12:121077800-121078000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:121077800-121078000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:121077800-121078000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
43	chr12:121077800-121078000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:121077800-121078000	Enhancers	Brain Cingulate Gyrus	brain
45	chr12:121077800-121078000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
46	chr12:121077800-121078000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr12:121077800-121078000	Enhancers	Fetal Brain Male	brain
48	chr12:121077800-121078000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
49	chr12:121077800-121078000	Bivalent Enhancer	Fetal Intestine Small	intestine
50	chr12:121077800-121078000	Bivalent Enhancer	Fetal Muscle Leg	muscle

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