Variant report

Variant	rs12977072
Chromosome Location	chr19:19774659-19774660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:436)
CpG islands
(count:61)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19773980-19774905	HUVEC	blood vessel:	n/a	n/a
2	TBP	chr19:19773953-19774881	GM12878	blood:	n/a	n/a
3	HDAC2	chr19:19774578-19774833	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF12	chr19:19774224-19774944	ECC-1	luminal epithelium:	n/a	n/a
5	ELK1	chr19:19773814-19774874	GM12878	blood:	n/a	chr19:19774531-19774540 chr19:19774531-19774540
6	POLR2A	chr19:19773478-19774877	PBDE	blood:	n/a	n/a
7	SRF	chr19:19774250-19775044	MCF-7	breast:	n/a	n/a
8	TAF1	chr19:19774171-19774665	PFSK-1	brain:	n/a	n/a
9	ZC3H11A	chr19:19774557-19774746	K562	blood:	n/a	n/a
10	CHD2	chr19:19774337-19774806	H1-hESC	embryonic stem cell:	n/a	n/a
11	MYC	chr19:19773784-19775113	K562	blood:	n/a	chr19:19774771-19774780 chr19:19774581-19774590
12	KAP1	chr19:19773956-19775185	U2OS	brain:	n/a	n/a
13	STAT3	chr19:19774243-19774715	MCF10A-Er-Src	breast:	n/a	chr19:19774528-19774548 chr19:19774528-19774548 chr19:19774532-19774543
14	STAT3	chr19:19774367-19774678	MCF10A-Er-Src	breast:	n/a	chr19:19774528-19774548 chr19:19774528-19774548 chr19:19774532-19774543
15	SIN3AK20	chr19:19774034-19774941	SK-N-SH	brain:	n/a	n/a
16	NFIC	chr19:19774356-19774728	HepG2	liver:	n/a	n/a
17	POLR2A	chr19:19772031-19775125	GM19193	blood:	n/a	n/a
18	RFX5	chr19:19774418-19774841	GM12878	blood:	n/a	chr19:19774766-19774781 chr19:19774766-19774781
19	SP1	chr19:19774521-19774903	GM12878	blood:	n/a	n/a
20	POLR2A	chr19:19773754-19775152	K562	blood:	n/a	n/a
21	MXI1	chr19:19774042-19774871	H1-hESC	embryonic stem cell:	n/a	chr19:19774765-19774780 chr19:19774550-19774565
22	YY1	chr19:19773774-19775206	SK-N-SH	brain:	n/a	chr19:19774467-19774479 chr19:19774543-19774557
23	CREB1	chr19:19774408-19774793	ECC-1	luminal epithelium:	n/a	n/a
24	ETS1	chr19:19774268-19774873	GM12878	blood:	n/a	chr19:19774529-19774539 chr19:19774531-19774540 chr19:19774531-19774540 chr19:19774492-19774502 chr19:19774494-19774503 chr19:19774531-19774540 chr19:19774531-19774540 chr19:19774528-19774544 chr19:19774531-19774540 chr19:19774531-19774540 chr19:19774531-19774540 chr19:19774494-19774503 chr19:19774530-19774543
25	YY1	chr19:19774053-19774863	K562	blood:	n/a	chr19:19774467-19774479 chr19:19774543-19774557
26	POLR2A	chr19:19773885-19775092	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr19:19772640-19775184	Raji	blood:	n/a	n/a
28	POLR2A	chr19:19773991-19775048	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr19:19771886-19774863	GM12878	blood:	n/a	n/a
30	TAF1	chr19:19774288-19774721	SK-N-SH	brain:	n/a	n/a
31	CREB1	chr19:19773767-19775141	HepG2	liver:	n/a	n/a
32	POLR2A	chr19:19774516-19774829	HepG2	liver:	n/a	n/a
33	FOXM1	chr19:19774247-19774878	GM12878	blood:	n/a	n/a
34	BCLAF1	chr19:19774092-19774891	GM12878	blood:	n/a	chr19:19774531-19774540 chr19:19774494-19774503 chr19:19774707-19774716
35	CHD1	chr19:19773984-19774712	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr19:19773944-19774850	A549	lung:	n/a	n/a
37	RFX5	chr19:19774389-19774982	Hela-S3	cervix:	n/a	chr19:19774766-19774781 chr19:19774766-19774781
38	JUND	chr19:19774251-19774864	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr19:19772026-19775170	GM18505	blood:	n/a	n/a
40	ZMIZ1	chr19:19774346-19774973	K562	blood:	n/a	n/a
41	ZNF143	chr19:19774546-19774695	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr19:19774173-19774886	GM12878	blood:	n/a	n/a
43	POLR2A	chr19:19772545-19775164	GM18526	blood:	n/a	n/a
44	REST	chr19:19773864-19774897	HL-60	blood:	n/a	n/a
45	POLR2A	chr19:19774271-19774890	HepG2	liver:	n/a	n/a
46	EBF1	chr19:19773967-19774824	GM12878	blood:	n/a	n/a
47	POLR2A	chr19:19772089-19775169	GM18951	blood:	n/a	n/a
48	MYC	chr19:19773982-19774904	K562	blood:	n/a	chr19:19774771-19774780 chr19:19774581-19774590
49	POLR2A	chr19:19772425-19775227	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr19:19772506-19775176	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:19774628-19774678	RPTEC	kidney:	n/a
2	chr19:19774628-19774678	SAEC	small airway:	n/a
3	chr19:19774628-19774678	HNPCEpiC	eye:	n/a
4	chr19:19774628-19774678	HRPEpiC	eye:	n/a
5	chr19:19774628-19774678	SK-N-SH	brain:	n/a
6	chr19:19774628-19774678	H1-hESC	embryonic stem cell:	embryo
7	chr19:19774628-19774678	AG04449	skin:	fetal
8	chr19:19774628-19774678	GM06990	blood:	n/a
9	chr19:19774628-19774678	PrEC	prostate:	n/a
10	chr19:19774628-19774678	AoSMC	blood vessel:	n/a
11	chr19:19774628-19774678	Hela-S3	cervix:	n/a
12	chr19:19774628-19774678	AG09309	skin:	n/a
13	chr19:19774628-19774678	HCF	heart:	n/a
14	chr19:19774628-19774678	BJ	skin:	n/a
15	chr19:19774628-19774678	GM12891	blood:	n/a
16	chr19:19774628-19774678	HepG2	liver:	n/a
17	chr19:19774628-19774678	HCT-116	colon:	n/a
18	chr19:19774628-19774678	Caco-2	colon:	n/a
19	chr19:19774628-19774678	SKMC	muscle:	n/a
20	chr19:19774628-19774678	PFSK-1	brain:	n/a
21	chr19:19774628-19774678	Jurkat	blood:	n/a
22	chr19:19774628-19774678	HMEC	breast:	n/a
23	chr19:19774628-19774678	CMK	blood:	n/a
24	chr19:19774628-19774678	Hepatocyte	liver:	n/a
25	chr19:19774628-19774678	HRCEpiC	kidney:	n/a
26	chr19:19774628-19774678	AG10803	skin:	n/a
27	chr19:19774628-19774678	T-47D	breast:	n/a
28	chr19:19774628-19774678	LNCaP	prostate:	n/a
29	chr19:19774628-19774678	HEK293	kidney:	embryo
30	chr19:19774628-19774678	A549	lung:	n/a
31	chr19:19774628-19774678	HRE	kidney:	n/a
32	chr19:19774628-19774678	HAEpiC	amniotic membrane:	n/a
33	chr19:19774628-19774678	NT2-D1	testis:	n/a
34	chr19:19774628-19774678	NB4	blood:	n/a
35	chr19:19774628-19774678	NHDF-neo	bronchial:	n/a
36	chr19:19774628-19774678	SK-N-MC	brain:	n/a
37	chr19:19774628-19774678	HEEpiC	esophagus:	n/a
38	chr19:19774628-19774678	GM12878	blood:	n/a
39	chr19:19774628-19774678	NHBE	bronchial:	n/a
40	chr19:19774628-19774678	AG09319	gingival:	n/a
41	chr19:19774628-19774678	U87	brain:	n/a
42	chr19:19774628-19774678	GM12892	blood:	n/a
43	chr19:19774628-19774678	HCM	heart:	n/a
44	chr19:19774628-19774678	HCPEpiC	choroid plexus:	n/a
45	chr19:19774628-19774678	HPAEpiC	pulmonary alveolar:	n/a
46	chr19:19774628-19774678	ECC-1	luminal epithelium:	n/a
47	chr19:19774628-19774678	BE2_C	brain:	n/a
48	chr19:19774628-19774678	SK-N-SH_RA	brain:	n/a
49	chr19:19774628-19774678	HUVEC	blood vessel:	n/a
50	chr19:19774628-19774678	ProgFib	skin:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19625322..19628012-chr19:19773852..19776193,2	K562	blood:
2	chr19:19728090..19730297-chr19:19774010..19775598,2	K562	blood:
3	chr19:19748686..19750462-chr19:19773488..19775987,2	K562	blood:
4	chr19:19753534..19755355-chr19:19771479..19774786,3	MCF-7	breast:
5	chr19:19623259..19625867-chr19:19772617..19774685,2	MCF-7	breast:
6	chr19:19739216..19741548-chr19:19773041..19775101,2	K562	blood:
7	chr19:19647870..19650487-chr19:19773815..19776020,2	MCF-7	breast:
8	chr1:28974889..28975516-chr19:19773844..19774668,2	Hela-S3	cervix:
9	chr19:19748686..19750462-chr19:19772850..19775987,3	K562	blood:
10	chr19:19636166..19641062-chr19:19772143..19775843,4	MCF-7	breast:
11	chr19:19751259..19757786-chr19:19771999..19776232,8	K562	blood:
12	chr19:19496290..19497914-chr19:19774313..19776411,2	MCF-7	breast:
13	chr19:19649331..19652417-chr19:19771491..19776120,6	K562	blood:
14	chr19:19651192..19652936-chr19:19774066..19776214,2	MCF-7	breast:
15	chr19:19767560..19771032-chr19:19771876..19774701,8	MCF-7	breast:
16	chr19:19649600..19655493-chr19:19770960..19774805,7	K562	blood:
17	chr19:19774537..19775287-chr2:187350608..187351466,2	NB4	blood:
18	chr19:19751259..19758144-chr19:19770384..19776332,14	K562	blood:
19	chr19:19772731..19775725-chr19:19841970..19845590,5	MCF-7	breast:
20	chr19:19673046..19675875-chr19:19772243..19774932,2	K562	blood:
21	chr19:19772622..19775616-chr19:19842700..19844547,2	MCF-7	breast:
22	chr19:19773987..19774730-chr6:26199521..26200292,2	Hela-S3	cervix:
23	chr19:19772164..19776257-chr19:19777737..19781997,10	MCF-7	breast:
24	chr19:19752144..19756505-chr19:19773208..19775858,7	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF101	TF binding region
ATP13A1	TF binding region
ATP13A1	CpG island
ZNF101	CpG island
ENSG00000065548	Chromatin interaction
ENSG00000105726	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000064547	Chromatin interaction
ENSG00000160161	Chromatin interaction
ENSG00000089639	Chromatin interaction
ENSG00000105717	Chromatin interaction
ENSG00000167491	Chromatin interaction
ENSG00000186010	Chromatin interaction
ENSG00000258674	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000181896	Chromatin interaction
ENSG00000105708	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000250067	Chromatin interaction
ENSG00000178093	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10421328	1.00[CHD][hapmap]
rs11669730	1.00[CHD][hapmap]
rs7253821	1.00[CHD][hapmap]
rs8108180	1.00[CHD][hapmap]
rs8110126	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv911309	chr19:19727042-19784891	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv911310	chr19:19753882-19784891	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
5	esv3330851	chr19:19755507-19852881	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19772600-19775400	Active TSS	GM12878-XiMat	blood
2	chr19:19773200-19775200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:19773200-19775200	Active TSS	Fetal Kidney	kidney
4	chr19:19773400-19775200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:19773400-19775200	Active TSS	A549	lung
6	chr19:19773400-19775400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr19:19773400-19775400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr19:19773600-19774800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr19:19773600-19775200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr19:19773600-19775200	Active TSS	Ovary	ovary
11	chr19:19773600-19775400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr19:19773600-19775400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:19773600-19775400	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr19:19773600-19775600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:19773800-19774800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
16	chr19:19773800-19774800	Active TSS	Aorta	Aorta
17	chr19:19773800-19774800	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr19:19773800-19774800	Active TSS	Small Intestine	intestine
19	chr19:19773800-19775200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr19:19773800-19775200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:19773800-19775200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:19773800-19775200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:19773800-19775200	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr19:19773800-19775200	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr19:19773800-19775200	Active TSS	Muscle Satellite Cultured Cells	--
26	chr19:19773800-19775200	Active TSS	Brain Angular Gyrus	brain
27	chr19:19773800-19775200	Active TSS	Brain Cingulate Gyrus	brain
28	chr19:19773800-19775200	Active TSS	Brain Germinal Matrix	brain
29	chr19:19773800-19775200	Active TSS	Fetal Intestine Small	intestine
30	chr19:19773800-19775200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr19:19773800-19775200	Active TSS	Placenta Amnion	Placenta Amnion
32	chr19:19773800-19775200	Active TSS	Psoas Muscle	Psoas
33	chr19:19773800-19775200	Active TSS	Stomach Mucosa	stomach
34	chr19:19773800-19775200	Active TSS	HSMM	muscle
35	chr19:19773800-19775200	Active TSS	HSMMtube	muscle
36	chr19:19773800-19775200	Active TSS	NHDF-Ad	bronchial
37	chr19:19773800-19775200	Active TSS	Osteobl	bone
38	chr19:19773800-19775400	Active TSS	H1 Cell Line	embryonic stem cell
39	chr19:19773800-19775400	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr19:19773800-19775400	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr19:19773800-19775400	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr19:19773800-19775400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr19:19773800-19775400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:19773800-19775400	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr19:19773800-19775400	Active TSS	Fetal Intestine Large	intestine
46	chr19:19773800-19775400	Active TSS	HMEC	breast
47	chr19:19773800-19775400	Active TSS	NHEK	skin
48	chr19:19773800-19775600	Active TSS	Hela-S3	cervix
49	chr19:19774000-19774800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
50	chr19:19774000-19774800	Active TSS	Gastric	stomach

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