Variant report

Variant	rs6947853
Chromosome Location	chr7:55955113-55955114
allele	A/G
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	EP300	chr7:55955042-55955306	GM12878	blood:	n/a	chr7:55955102-55955118
2	NRF1	chr7:55954661-55955439	SK-N-SH	brain:	n/a	chr7:55955121-55955130 chr7:55955121-55955132
3	POLR2A	chr7:55954816-55955426	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr7:55954912-55955762	GM15510	blood:	n/a	n/a
5	RFX5	chr7:55954801-55955157	H1-hESC	embryonic stem cell:	n/a	chr7:55954891-55954906
6	ATF3	chr7:55954934-55955210	K562	blood:	n/a	n/a
7	MAX	chr7:55954998-55955239	HepG2	liver:	n/a	n/a
8	RUNX3	chr7:55954952-55955287	GM12878	blood:	n/a	n/a
9	TAF1	chr7:55954953-55955314	GM12878	blood:	n/a	n/a
10	RCOR1	chr7:55954827-55955181	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr7:55954894-55955280	GM12892	blood:	n/a	n/a
12	POLR2A	chr7:55954819-55955312	PBDE	blood:	n/a	n/a
13	POLR2A	chr7:55954792-55955259	SK-N-SH	brain:	n/a	n/a
14	YY1	chr7:55954929-55955334	K562	blood:	n/a	chr7:55955106-55955120 chr7:55955003-55955017
15	CHD2	chr7:55954836-55955268	GM12878	blood:	n/a	n/a
16	TAF1	chr7:55954706-55955356	H1-hESC	embryonic stem cell:	n/a	n/a
17	HA-E2F1	chr7:55955060-55955796	Hela-S3	cervix:	n/a	chr7:55955607-55955619 chr7:55955122-55955131
18	TAF1	chr7:55955046-55955353	K562	blood:	n/a	n/a
19	POLR2A	chr7:55954946-55955411	HepG2	liver:	n/a	n/a
20	POLR2A	chr7:55954883-55955693	GM19099	blood:	n/a	n/a
21	POLR2A	chr7:55954970-55955309	HepG2	liver:	n/a	n/a
22	YY1	chr7:55954771-55955410	SK-N-SH	brain:	n/a	chr7:55955106-55955120 chr7:55955003-55955017
23	CREB1	chr7:55955052-55955452	K562	blood:	n/a	n/a
24	ZNF143	chr7:55955007-55955174	K562	blood:	n/a	n/a
25	REST	chr7:55954413-55955646	H1-neurons	neurons:	n/a	chr7:55955623-55955632 chr7:55955623-55955636 chr7:55954895-55954904
26	MYC	chr7:55955084-55955195	MCF10A-Er-Src	breast:	n/a	n/a
27	RAD21	chr7:55954984-55955276	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr7:55954872-55955315	HepG2	liver:	n/a	n/a
29	YY1	chr7:55954513-55955504	SK-N-SH	brain:	n/a	chr7:55955106-55955120 chr7:55955003-55955017
30	CEBPB	chr7:55954914-55955232	Hela-S3	cervix:	n/a	n/a
31	RFX5	chr7:55954728-55955235	Hela-S3	cervix:	n/a	chr7:55954891-55954906
32	POLR2A	chr7:55954877-55955807	GM12892	blood:	n/a	n/a
33	TAF1	chr7:55954895-55955315	H1-neurons	neurons:	n/a	n/a
34	TBP	chr7:55954855-55955368	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr7:55954814-55955522	PFSK-1	brain:	n/a	n/a
36	NRF1	chr7:55954927-55955312	H1-hESC	embryonic stem cell:	n/a	chr7:55955121-55955130 chr7:55955121-55955132
37	MAX	chr7:55954996-55955280	Hela-S3	cervix:	n/a	n/a
38	MAX	chr7:55954938-55955327	H1-hESC	embryonic stem cell:	n/a	n/a
39	ELF1	chr7:55954803-55955380	GM12878	blood:	n/a	chr7:55955012-55955024
40	YY1	chr7:55954779-55955371	H1-hESC	embryonic stem cell:	n/a	chr7:55955106-55955120 chr7:55955003-55955017
41	RCOR1	chr7:55954780-55955279	GM12878	blood:	n/a	n/a
42	TAF1	chr7:55954948-55955318	K562	blood:	n/a	n/a
43	POLR2A	chr7:55954998-55955409	GM12878	blood:	n/a	n/a
44	TAF1	chr7:55954842-55955374	HepG2	liver:	n/a	n/a
45	POLR2A	chr7:55954832-55955348	HepG2	liver:	n/a	n/a
46	POLR2A	chr7:55954995-55955252	GM12891	blood:	n/a	n/a
47	MXI1	chr7:55954919-55955251	Hela-S3	cervix:	n/a	n/a
48	YY1	chr7:55954831-55955402	GM12892	blood:	n/a	chr7:55955106-55955120 chr7:55955003-55955017
49	YY1	chr7:55954985-55955337	NT2-D1	testis:	n/a	chr7:55955106-55955120 chr7:55955003-55955017
50	NRF1	chr7:55954920-55955289	Hela-S3	cervix:	n/a	chr7:55955121-55955130 chr7:55955121-55955132

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:55955076-55955126	Jurkat	blood:	n/a
2	chr7:55955076-55955126	U87	brain:	n/a
3	chr7:55955076-55955126	AG09309	skin:	n/a
4	chr7:55955076-55955126	PANC-1	pancreas:	n/a
5	chr7:55955076-55955126	ovcar-3	ovarian:	n/a
6	chr7:55955076-55955126	H1-hESC	embryonic stem cell:	embryo
7	chr7:55955076-55955126	MCF10A-Er-Src	breast:	n/a
8	chr7:55955076-55955126	RPTEC	kidney:	n/a
9	chr7:55955076-55955126	HEEpiC	esophagus:	n/a
10	chr7:55955076-55955126	K562	blood:	n/a
11	chr7:55955076-55955126	GM19239	blood:	n/a
12	chr7:55955076-55955126	AoSMC	blood vessel:	n/a
13	chr7:55955076-55955126	GM06990	blood:	n/a
14	chr7:55955076-55955126	NT2-D1	testis:	n/a
15	chr7:55955076-55955126	HUVEC	blood vessel:	n/a
16	chr7:55955076-55955126	HIPEpiC	eye:	n/a
17	chr7:55955076-55955126	CMK	blood:	n/a
18	chr7:55955076-55955126	HNPCEpiC	eye:	n/a
19	chr7:55955076-55955126	NHDF-neo	bronchial:	n/a
20	chr7:55955076-55955126	HRPEpiC	eye:	n/a
21	chr7:55955076-55955126	SAEC	small airway:	n/a
22	chr7:55955076-55955126	LNCaP	prostate:	n/a
23	chr7:55955076-55955126	Hela-S3	cervix:	n/a
24	chr7:55955076-55955126	SKMC	muscle:	n/a
25	chr7:55955076-55955126	ECC-1	luminal epithelium:	n/a
26	chr7:55955076-55955126	BJ	skin:	n/a
27	chr7:55955076-55955126	AG09319	gingival:	n/a
28	chr7:55955076-55955126	ProgFib	skin:	n/a
29	chr7:55955076-55955126	SK-N-SH	brain:	n/a
30	chr7:55955076-55955126	NH-A	brain:	n/a
31	chr7:55955076-55955126	NB4	blood:	n/a
32	chr7:55955076-55955126	HRE	kidney:	n/a
33	chr7:55955076-55955126	MCF-7	breast:	n/a
34	chr7:55955076-55955126	HEK293	kidney:	embryo
35	chr7:55955076-55955126	HepG2	liver:	n/a
36	chr7:55955076-55955126	AG04450	lung:	fetal
37	chr7:55955076-55955126	NHBE	bronchial:	n/a
38	chr7:55955076-55955126	T-47D	breast:	n/a
39	chr7:55955076-55955126	AG04449	skin:	fetal
40	chr7:55955076-55955126	A549	lung:	n/a
41	chr7:55955076-55955126	AG10803	skin:	n/a
42	chr7:55955076-55955126	HCM	heart:	n/a
43	chr7:55955076-55955126	SK-N-MC	brain:	n/a
44	chr7:55955076-55955126	SK-N-SH_RA	brain:	n/a
45	chr7:55955076-55955126	Hepatocyte	liver:	n/a
46	chr7:55955076-55955126	HCF	heart:	n/a
47	chr7:55955076-55955126	HAEpiC	amniotic membrane:	n/a
48	chr7:55955076-55955126	Caco-2	colon:	n/a
49	chr7:55955076-55955126	HCT-116	colon:	n/a
50	chr7:55955076-55955126	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:55954730..55957503-chr7:55957932..55960617,3	K562	blood:
2	chr7:55953245..55956784-chr7:55957115..55962697,6	MCF-7	breast:
3	chr7:55954730..55957550-chr7:55957932..55963672,5	K562	blood:

Variant related genes	Relation type
ZNF713	TF binding region
ZNF713	CpG island
ENSG00000265676	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1059309	0.83[ASN][1000 genomes]
rs1078650	0.81[ASN][1000 genomes]
rs1136390	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12154231	0.84[ASN][1000 genomes]
rs12532776	0.83[ASN][1000 genomes]
rs12668504	0.84[ASN][1000 genomes]
rs12668532	0.84[ASN][1000 genomes]
rs12669185	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12674147	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12674334	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2006649	0.83[ASN][1000 genomes]
rs2289062	0.83[ASN][1000 genomes]
rs2331095	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34795560	0.84[ASN][1000 genomes]
rs34869068	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55852201	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58006921	0.84[ASN][1000 genomes]
rs58981281	0.83[ASN][1000 genomes]
rs59199266	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59849749	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60962915	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6593291	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6955639	0.83[ASN][1000 genomes]
rs6975697	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73134780	0.89[ASN][1000 genomes]
rs73138774	0.84[ASN][1000 genomes]
rs73138777	0.84[ASN][1000 genomes]
rs7778601	0.84[ASN][1000 genomes]
rs7781165	0.82[ASN][1000 genomes]
rs7798243	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7804578	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv427782	chr7:55703073-56010314	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
8	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
10	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
13	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
14	esv3395123	chr7:55954408-55956456	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:55954400-55955800	Active TSS	Primary T cells from cord blood	blood
2	chr7:55954400-55955800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:55954400-55955800	Active TSS	Fetal Brain Female	brain
4	chr7:55954400-55956000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:55954400-55956000	Active TSS	Brain Anterior Caudate	brain
6	chr7:55954400-55956000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr7:55954400-55956200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:55954400-55956200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:55954400-55956200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:55954400-55956200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr7:55954400-55956200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:55954400-55956200	Active TSS	Rectal Smooth Muscle	rectum
13	chr7:55954400-55956400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:55954400-55956400	Active TSS	A549	lung
15	chr7:55954400-55956600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:55954400-55956600	Active TSS	Brain Germinal Matrix	brain
17	chr7:55954600-55955200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:55954600-55955600	Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr7:55954600-55955800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:55954600-55955800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:55954600-55955800	Active TSS	Primary monocytes fromperipheralblood	blood
22	chr7:55954600-55955800	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr7:55954600-55955800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:55954600-55955800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:55954600-55955800	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr7:55954600-55955800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:55954600-55955800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:55954600-55955800	Active TSS	Adipose Nuclei	Adipose
29	chr7:55954600-55955800	Active TSS	Liver	Liver
30	chr7:55954600-55955800	Active TSS	Colonic Mucosa	Colon
31	chr7:55954600-55955800	Active TSS	Esophagus	oesophagus
32	chr7:55954600-55955800	Active TSS	Left Ventricle	heart
33	chr7:55954600-55955800	Active TSS	Lung	lung
34	chr7:55954600-55955800	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr7:55954600-55955800	Active TSS	Small Intestine	intestine
36	chr7:55954600-55956000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:55954600-55956000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:55954600-55956000	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr7:55954600-55956000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:55954600-55956000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr7:55954600-55956000	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr7:55954600-55956000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:55954600-55956000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:55954600-55956000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:55954600-55956000	Active TSS	Aorta	Aorta
46	chr7:55954600-55956000	Active TSS	Brain Cingulate Gyrus	brain
47	chr7:55954600-55956000	Active TSS	Brain Hippocampus Middle	brain
48	chr7:55954600-55956000	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr7:55954600-55956000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:55954600-55956000	Active TSS	Brain Substantia Nigra	brain

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