Variant report

Variant	rs35347591
Chromosome Location	chr7:55954968-55954969
allele	GC/TT
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	NRF1	chr7:55954661-55955439	SK-N-SH	brain:	n/a	chr7:55955121-55955130 chr7:55955121-55955132
2	POLR2A	chr7:55954816-55955426	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr7:55954912-55955762	GM15510	blood:	n/a	n/a
4	RFX5	chr7:55954801-55955157	H1-hESC	embryonic stem cell:	n/a	chr7:55954891-55954906
5	ATF3	chr7:55954934-55955210	K562	blood:	n/a	n/a
6	RUNX3	chr7:55954952-55955287	GM12878	blood:	n/a	n/a
7	TAF1	chr7:55954953-55955314	GM12878	blood:	n/a	n/a
8	RCOR1	chr7:55954827-55955181	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr7:55954894-55955280	GM12892	blood:	n/a	n/a
10	POLR2A	chr7:55954819-55955312	PBDE	blood:	n/a	n/a
11	POLR2A	chr7:55954792-55955259	SK-N-SH	brain:	n/a	n/a
12	YY1	chr7:55954929-55955334	K562	blood:	n/a	chr7:55955106-55955120 chr7:55955003-55955017
13	CHD2	chr7:55954836-55955268	GM12878	blood:	n/a	n/a
14	TAF1	chr7:55954706-55955356	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr7:55954946-55955411	HepG2	liver:	n/a	n/a
16	POLR2A	chr7:55954883-55955693	GM19099	blood:	n/a	n/a
17	YY1	chr7:55954771-55955410	SK-N-SH	brain:	n/a	chr7:55955106-55955120 chr7:55955003-55955017
18	REST	chr7:55954413-55955646	H1-neurons	neurons:	n/a	chr7:55955623-55955632 chr7:55955623-55955636 chr7:55954895-55954904
19	POLR2A	chr7:55954872-55955315	HepG2	liver:	n/a	n/a
20	YY1	chr7:55954513-55955504	SK-N-SH	brain:	n/a	chr7:55955106-55955120 chr7:55955003-55955017
21	CEBPB	chr7:55954914-55955232	Hela-S3	cervix:	n/a	n/a
22	RFX5	chr7:55954728-55955235	Hela-S3	cervix:	n/a	chr7:55954891-55954906
23	POLR2A	chr7:55954877-55955807	GM12892	blood:	n/a	n/a
24	TAF1	chr7:55954895-55955315	H1-neurons	neurons:	n/a	n/a
25	TBP	chr7:55954855-55955368	H1-hESC	embryonic stem cell:	n/a	n/a
26	NFYA	chr7:55954843-55955059	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr7:55954814-55955522	PFSK-1	brain:	n/a	n/a
28	NRF1	chr7:55954927-55955312	H1-hESC	embryonic stem cell:	n/a	chr7:55955121-55955130 chr7:55955121-55955132
29	MAX	chr7:55954938-55955327	H1-hESC	embryonic stem cell:	n/a	n/a
30	ELF1	chr7:55954803-55955380	GM12878	blood:	n/a	chr7:55955012-55955024
31	YY1	chr7:55954779-55955371	H1-hESC	embryonic stem cell:	n/a	chr7:55955106-55955120 chr7:55955003-55955017
32	RCOR1	chr7:55954780-55955279	GM12878	blood:	n/a	n/a
33	TAF1	chr7:55954948-55955318	K562	blood:	n/a	n/a
34	TAF1	chr7:55954842-55955374	HepG2	liver:	n/a	n/a
35	POLR2A	chr7:55954832-55955348	HepG2	liver:	n/a	n/a
36	MXI1	chr7:55954919-55955251	Hela-S3	cervix:	n/a	n/a
37	YY1	chr7:55954831-55955402	GM12892	blood:	n/a	chr7:55955106-55955120 chr7:55955003-55955017
38	NRF1	chr7:55954920-55955289	Hela-S3	cervix:	n/a	chr7:55955121-55955130 chr7:55955121-55955132
39	GTF2F1	chr7:55954807-55955046	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr7:55954892-55955711	GM18505	blood:	n/a	n/a
41	POLR2A	chr7:55954904-55955299	SK-N-MC	brain:	n/a	n/a
42	RFX5	chr7:55954783-55955275	HepG2	liver:	n/a	chr7:55954891-55954906
43	TBP	chr7:55954857-55955346	K562	blood:	n/a	n/a
44	POLR2A	chr7:55954673-55955476	SK-N-MC	brain:	n/a	n/a
45	MAX	chr7:55954853-55955362	K562	blood:	n/a	n/a
46	POLR2A	chr7:55954888-55955760	GM19193	blood:	n/a	n/a
47	HEY1	chr7:55954883-55955407	HepG2	liver:	n/a	n/a
48	POLR2A	chr7:55954884-55955840	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr7:55954867-55955316	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr7:55954894-55955315	MCF10A-Er-Src	breast:	n/a	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
ENSG00000249773	TF binding region
ENSG00000265676	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10236322	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10260031	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10260048	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10263766	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11238384	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11771756	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13230292	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240729	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs15892	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1967230	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2304376	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2331096	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2331166	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4245574	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4518614	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4540366	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4947528	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4947529	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4948083	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4948085	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4948090	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4948093	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4948094	0.90[AMR][1000 genomes]
rs56128104	0.80[AMR][1000 genomes]
rs56207001	0.83[AMR][1000 genomes]
rs56269128	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56351949	0.85[AMR][1000 genomes]
rs62456648	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62456651	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62456653	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62456654	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6421738	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6593289	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6593290	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6946065	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6970353	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6972415	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6972914	0.81[EUR][1000 genomes]
rs6974707	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7778138	0.88[ASN][1000 genomes]
rs7790255	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7794115	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9649783	0.88[AMR][1000 genomes];0.84[EUR][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	chr7:55954600-55955000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr7:55954600-55955000	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr7:55954600-55955000	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr7:55954600-55955000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr7:55954600-55955000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:55954600-55955000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr7:55954600-55955000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr7:55954600-55955000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:55954600-55955000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:55954600-55955000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr7:55954600-55955000	Active TSS	Fetal Heart	heart
28	chr7:55954600-55955000	Flanking Active TSS	Placenta	Placenta
29	chr7:55954600-55955000	Flanking Active TSS	Dnd41	blood
30	chr7:55954600-55955000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr7:55954600-55955200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:55954600-55955600	Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr7:55954600-55955800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:55954600-55955800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:55954600-55955800	Active TSS	Primary monocytes fromperipheralblood	blood
36	chr7:55954600-55955800	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr7:55954600-55955800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:55954600-55955800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:55954600-55955800	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr7:55954600-55955800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:55954600-55955800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:55954600-55955800	Active TSS	Adipose Nuclei	Adipose
43	chr7:55954600-55955800	Active TSS	Liver	Liver
44	chr7:55954600-55955800	Active TSS	Colonic Mucosa	Colon
45	chr7:55954600-55955800	Active TSS	Esophagus	oesophagus
46	chr7:55954600-55955800	Active TSS	Left Ventricle	heart
47	chr7:55954600-55955800	Active TSS	Lung	lung
48	chr7:55954600-55955800	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr7:55954600-55955800	Active TSS	Small Intestine	intestine
50	chr7:55954600-55956000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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