Variant report

Variant	rs6960897
Chromosome Location	chr7:5769962-5769963
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10232762	0.94[ASN][1000 genomes]
rs10233615	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10241310	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10259773	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10275238	0.92[ASN][1000 genomes]
rs1035331	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11531468	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12531598	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1990836	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2009260	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2287593	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2287595	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs2345938	0.92[AFR][1000 genomes]
rs3735289	0.94[ASN][1000 genomes]
rs3801016	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3801019	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3823683	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4720640	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4720641	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4720642	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4724712	1.00[CHB][hapmap]
rs4724713	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4724718	1.00[CHB][hapmap];0.93[YRI][hapmap];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61203027	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6463506	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6463507	0.82[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6944143	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6951438	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6956960	0.94[ASN][1000 genomes]
rs6958272	0.91[AMR][1000 genomes]
rs6960381	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7777831	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7796461	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7800691	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7803308	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs852257	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852258	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852265	0.82[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs852266	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs852267	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs852375	0.82[CEU][hapmap];0.90[JPT][hapmap]
rs852376	0.82[CEU][hapmap];0.90[JPT][hapmap]
rs852397	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs852402	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs852409	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs852410	0.85[CEU][hapmap];1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs852415	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs852420	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs852441	0.82[CEU][hapmap];0.90[JPT][hapmap]
rs852453	0.82[CEU][hapmap];0.90[JPT][hapmap]
rs852468	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs852489	0.85[CEU][hapmap];0.88[JPT][hapmap]
rs852516	0.82[CEU][hapmap];0.90[JPT][hapmap]
rs860425	0.81[AFR][1000 genomes]
rs888582	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs888583	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9648578	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
5	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS 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 miRNA target site	336 gene(s)	inside rSNPs	diseases
6	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
7	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
8	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
9	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
10	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription 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	44 gene(s)	inside rSNPs	diseases
11	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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 miRNA target site	126 gene(s)	inside rSNPs	diseases
12	nsv887418	chr7:5675305-5772551	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
13	nsv887419	chr7:5703669-5820383	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
14	nsv830891	chr7:5726301-5895460	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
15	nsv1028601	chr7:5748982-5919098	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
16	nsv1034215	chr7:5748982-6056619	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
17	nsv1016690	chr7:5749222-6056619	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
18	nsv1027679	chr7:5760731-6056619	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
19	nsv970440	chr7:5762947-5773677	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5737600-5774200	Strong transcription	Dnd41	blood
2	chr7:5746000-5770400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:5746000-5771200	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr7:5753200-5794400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:5755000-5780800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:5758400-5770200	Strong transcription	Fetal Thymus	thymus
7	chr7:5758800-5770000	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr7:5758800-5770200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:5758800-5770800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:5758800-5770800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:5758800-5771000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:5759000-5770200	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:5759200-5770000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr7:5761400-5770000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:5761600-5785600	Weak transcription	Fetal Brain Male	brain
16	chr7:5761800-5770000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:5761800-5770200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:5761800-5783000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr7:5762000-5820400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:5762200-5777200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:5762800-5786000	Weak transcription	Fetal Kidney	kidney
22	chr7:5762800-5790200	Weak transcription	Small Intestine	intestine
23	chr7:5763200-5770200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:5763400-5770800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:5763600-5773000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:5765000-5770000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:5765200-5778400	Weak transcription	NHEK	skin
28	chr7:5765200-5780600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:5765200-5790400	Weak transcription	Psoas Muscle	Psoas
30	chr7:5766400-5770800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr7:5766800-5770200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:5767400-5780000	Weak transcription	Brain Germinal Matrix	brain
33	chr7:5767400-5780200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr7:5767600-5778400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr7:5768200-5770000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr7:5768600-5770000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr7:5768600-5770000	Strong transcription	HSMM	muscle
38	chr7:5768600-5773000	Strong transcription	Hela-S3	cervix
39	chr7:5768800-5770800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:5768800-5776600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:5768800-5778400	Weak transcription	Left Ventricle	heart
42	chr7:5768800-5778600	Weak transcription	Lung	lung
43	chr7:5768800-5780600	Weak transcription	Esophagus	oesophagus
44	chr7:5768800-5798200	Weak transcription	Colonic Mucosa	Colon
45	chr7:5769000-5771000	Weak transcription	GM12878-XiMat	blood
46	chr7:5769000-5777000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:5769000-5778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:5769000-5778600	Weak transcription	Fetal Brain Female	brain
49	chr7:5769000-5783800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:5769000-5785600	Weak transcription	Brain Angular Gyrus	brain

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