Variant report

Variant	rs3751565
Chromosome Location	chr7:63385883-63385884
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	MAX	chr7:63385504-63387649	MCF-7	breast:	n/a	chr7:63385721-63385728 chr7:63386200-63386210 chr7:63385718-63385729
2	REST	chr7:63385646-63386045	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr7:63385872-63386169	SK-N-SH	brain:	n/a	n/a
4	MAX	chr7:63385475-63387520	SK-N-SH	brain:	n/a	chr7:63385721-63385728 chr7:63386200-63386210 chr7:63385718-63385729
5	MAX	chr7:63385853-63387639	MCF-7	breast:	n/a	chr7:63386200-63386210
6	YY1	chr7:63385731-63387240	SK-N-SH_RA	brain:	n/a	chr7:63386199-63386208
7	MXI1	chr7:63384040-63387855	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr7:63385688-63387601	MCF-7	breast:	n/a	n/a
9	MAX	chr7:63385491-63386298	SK-N-SH	brain:	n/a	chr7:63385721-63385728 chr7:63386200-63386210 chr7:63385718-63385729
10	SIN3AK20	chr7:63385550-63387631	MCF-7	breast:	n/a	n/a
11	POLR2A	chr7:63385675-63387503	MCF-7	breast:	n/a	n/a
12	TAF1	chr7:63385873-63386160	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr7:63385766-63387245	PANC-1	pancreas:	n/a	n/a
14	YY1	chr7:63385774-63387301	SK-N-SH	brain:	n/a	chr7:63386199-63386208
15	ELF1	chr7:63385712-63387580	MCF-7	breast:	n/a	chr7:63387073-63387085
16	POLR2A	chr7:63385604-63387427	SK-N-SH	brain:	n/a	n/a
17	TAF1	chr7:63385750-63386235	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr7:63385852-63386648	PANC-1	pancreas:	n/a	n/a
19	NRF1	chr7:63385762-63387773	SK-N-SH	brain:	n/a	n/a
20	GATA3	chr7:63385700-63386008	T-47D	breast:	n/a	n/a
21	ELF1	chr7:63385872-63387118	SK-N-SH	brain:	n/a	chr7:63387073-63387085
22	POLR2A	chr7:63385883-63386640	HL-60	blood:	n/a	n/a
23	POLR2A	chr7:63385656-63387448	MCF-7	breast:	n/a	n/a
24	YY1	chr7:63385683-63386140	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:63360688..63363246-chr7:63384808..63387419,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF680-32	chr7:63384052-63386093	NONHSAT120954

Variant related genes	Relation type
ENSG00000265017	TF binding region
ENSG00000226581	Chromatin interaction
ENSG00000236299	Chromatin interaction
ENSG00000263891	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10227601	0.84[EUR][1000 genomes]
rs10230036	0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10238234	0.84[EUR][1000 genomes]
rs10245110	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs11978874	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs1595620	0.82[CHB][hapmap]
rs17137132	1.00[CEU][hapmap]
rs17138355	0.84[EUR][1000 genomes]
rs17138416	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17139476	1.00[CEU][hapmap]
rs17139478	1.00[CEU][hapmap]
rs17840380	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2033829	0.84[EUR][1000 genomes]
rs4717940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55723393	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56149388	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56229596	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56249171	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56310951	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56378232	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56381247	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56696237	0.84[EUR][1000 genomes]
rs6460102	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs66487504	0.84[EUR][1000 genomes]
rs6972845	1.00[CEU][hapmap]
rs6975092	1.00[CEU][hapmap]
rs73123042	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73123044	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73123067	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123069	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73123071	0.82[ASN][1000 genomes]
rs73123077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73127180	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888255	chr7:63175168-63990100	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv888257	chr7:63226279-63464342	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv888258	chr7:63294907-63537173	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv534361	chr7:63328472-63955286	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv888259	chr7:63363001-64009193	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	esv3365963	chr7:63367092-63587809	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	esv3496812	chr7:63367459-63649196	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	esv3496813	chr7:63367459-63649196	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	esv3336155	chr7:63368772-63650552	Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv966816	chr7:63376622-63390937	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv464514	chr7:63383123-63847894	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
12	nsv607304	chr7:63383123-63847894	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63384800-63386000	Flanking Active TSS	Dnd41	blood
2	chr7:63385000-63386000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:63385200-63387200	Active TSS	Primary hematopoietic stem cells	blood
4	chr7:63385400-63386000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:63385400-63386000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr7:63385400-63386400	Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr7:63385400-63387200	Active TSS	Brain Hippocampus Middle	brain
8	chr7:63385400-63387400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr7:63385400-63387400	Active TSS	Brain Anterior Caudate	brain
10	chr7:63385400-63387400	Active TSS	Brain Substantia Nigra	brain
11	chr7:63385400-63387400	Active TSS	Ovary	ovary
12	chr7:63385400-63387400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr7:63385400-63387600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:63385400-63387800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:63385400-63387800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:63385400-63388000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
17	chr7:63385600-63386000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr7:63385600-63386000	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr7:63385600-63386000	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr7:63385600-63386000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr7:63385600-63386000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:63385600-63386000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr7:63385600-63386000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr7:63385600-63386000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:63385600-63386000	Flanking Active TSS	Liver	Liver
26	chr7:63385600-63386000	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr7:63385600-63386000	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr7:63385600-63386000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr7:63385600-63386000	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr7:63385600-63386200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr7:63385600-63386200	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr7:63385600-63386200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
33	chr7:63385600-63387200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:63385600-63387200	Active TSS	Esophagus	oesophagus
35	chr7:63385600-63387200	Active TSS	Pancreas	Pancrea
36	chr7:63385600-63387200	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr7:63385600-63387400	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr7:63385600-63387400	Active TSS	Primary T cells from cord blood	blood
39	chr7:63385600-63387400	Active TSS	Colon Smooth Muscle	Colon
40	chr7:63385600-63387400	Active TSS	Duodenum Mucosa	Duodenum
41	chr7:63385600-63387400	Active TSS	Gastric	stomach
42	chr7:63385600-63387400	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr7:63385600-63387400	Active TSS	K562	blood
44	chr7:63385600-63387600	Active TSS	Colonic Mucosa	Colon
45	chr7:63385600-63387600	Active TSS	Left Ventricle	heart
46	chr7:63385600-63387600	Active TSS	Right Atrium	heart
47	chr7:63385600-63387800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:63385600-63387800	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr7:63385600-63387800	ZNF genes & repeats	Fetal Stomach	stomach
50	chr7:63385600-63387800	Active TSS	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links