Variant report

Variant	rs17135110
Chromosome Location	chr7:4816756-4816757
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4815302..4817443-chr7:4835837..4838194,2	MCF-7	breast:
2	chr7:4813279..4817996-chr7:4818432..4827499,15	MCF-7	breast:
3	chr7:4723905..4726708-chr7:4815348..4817182,2	K562	blood:
4	chr7:4815353..4817520-chr7:4819712..4821919,3	K562	blood:
5	chr7:4813801..4815751-chr7:4816573..4818278,2	MCF-7	breast:
6	chr7:4815133..4816843-chr7:4827652..4829770,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242802	Chromatin interaction
ENSG00000264474	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10215582	0.87[EUR][1000 genomes]
rs10232558	1.00[CHB][hapmap]
rs10270796	1.00[CHB][hapmap]
rs11628	0.85[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11764272	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11764275	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11768079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11769768	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11772411	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13224156	0.87[ASN][1000 genomes]
rs13236366	0.83[ASN][1000 genomes]
rs17135096	0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17135099	0.87[ASN][1000 genomes]
rs17135102	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17135115	1.00[CEU][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17135128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17829969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs2011679	1.00[CHB][hapmap]
rs34217589	0.87[ASN][1000 genomes]
rs35713835	0.90[ASN][1000 genomes]
rs3750012	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs3750013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3750014	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3750015	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3750016	1.00[JPT][hapmap]
rs3750019	1.00[JPT][hapmap]
rs3801041	0.90[ASN][1000 genomes]
rs3816851	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3816852	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs57468476	0.82[EUR][1000 genomes]
rs60972000	0.90[ASN][1000 genomes]
rs6958952	0.93[ASN][1000 genomes]
rs6963791	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs6975325	1.00[ASN][1000 genomes]
rs749404	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7801122	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7803727	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs879217	1.00[CHB][hapmap];0.85[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv823994	chr7:4792385-4928328	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv887382	chr7:4792762-4880954	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
15	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
16	nsv482101	chr7:4815264-4831397	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	8 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	chr7:4813800-4817000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:4815400-4816800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:4815600-4816800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
4	chr7:4815600-4816800	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr7:4815800-4816800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:4815800-4816800	Flanking Active TSS	Dnd41	blood
7	chr7:4815800-4816800	Flanking Active TSS	Hela-S3	cervix
8	chr7:4815800-4816800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr7:4816000-4816800	Enhancers	Fetal Heart	heart
10	chr7:4816000-4816800	Enhancers	Stomach Mucosa	stomach
11	chr7:4816000-4820600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:4816000-4820600	Weak transcription	Small Intestine	intestine
13	chr7:4816000-4820800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:4816000-4820800	Weak transcription	Aorta	Aorta
15	chr7:4816000-4832000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:4816200-4816800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:4816200-4816800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:4816200-4816800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:4816200-4816800	Enhancers	Brain Angular Gyrus	brain
20	chr7:4816200-4816800	Enhancers	Brain Anterior Caudate	brain
21	chr7:4816200-4816800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr7:4816200-4816800	Enhancers	Brain Substantia Nigra	brain
23	chr7:4816200-4816800	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr7:4816200-4816800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr7:4816200-4816800	Genic enhancers	Fetal Muscle Leg	muscle
26	chr7:4816200-4816800	Enhancers	Placenta	Placenta
27	chr7:4816200-4816800	Genic enhancers	Fetal Stomach	stomach
28	chr7:4816200-4816800	Enhancers	Fetal Thymus	thymus
29	chr7:4816200-4816800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr7:4816200-4816800	Enhancers	Thymus	Thymus
31	chr7:4816200-4817000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:4816200-4817000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr7:4816200-4817000	Genic enhancers	Primary B cells from cord blood	blood
34	chr7:4816200-4817000	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr7:4816200-4817000	Enhancers	Fetal Brain Female	brain
36	chr7:4816200-4817000	Enhancers	HUVEC	blood vessel
37	chr7:4816200-4817200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:4816200-4817200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:4816200-4817200	Enhancers	Left Ventricle	heart
40	chr7:4816200-4817800	Weak transcription	Pancreas	Pancrea
41	chr7:4816200-4818200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr7:4816200-4818200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr7:4816200-4818200	Enhancers	Esophagus	oesophagus
44	chr7:4816200-4818200	Enhancers	Spleen	Spleen
45	chr7:4816200-4820400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:4816200-4820600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr7:4816200-4820600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr7:4816200-4820600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr7:4816200-4820600	Weak transcription	HSMMtube	muscle
50	chr7:4816200-4820800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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