Variant report

Variant	rs6958272
Chromosome Location	chr7:5794044-5794045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5792453..5794631-chr7:5795297..5797484,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10232762	0.80[ASN][1000 genomes]
rs10233615	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10241310	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10259773	0.85[AMR][1000 genomes]
rs1035331	0.88[AMR][1000 genomes]
rs12531598	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1990836	0.88[AMR][1000 genomes]
rs2009260	0.80[AMR][1000 genomes]
rs2287593	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2287595	0.80[ASN][1000 genomes]
rs3735289	0.80[ASN][1000 genomes]
rs3801016	0.85[AMR][1000 genomes]
rs3801019	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3823683	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4720640	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4720641	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4720642	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4724713	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4724718	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4724722	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6463506	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6463507	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6463513	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6944143	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6956960	0.80[ASN][1000 genomes]
rs6959871	0.82[AMR][1000 genomes]
rs6960381	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6960897	0.91[AMR][1000 genomes]
rs7777831	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7796461	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7800691	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7803308	0.85[AMR][1000 genomes]
rs852257	0.85[AMR][1000 genomes]
rs852258	0.85[AMR][1000 genomes]
rs852265	0.80[ASN][1000 genomes]
rs852266	0.80[ASN][1000 genomes]
rs852267	0.80[ASN][1000 genomes]
rs852397	0.80[ASN][1000 genomes]
rs852402	0.80[ASN][1000 genomes]
rs888582	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs888583	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9648578	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	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
13	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
14	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
15	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
16	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
17	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
18	nsv464293	chr7:5778796-5891221	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv464294	chr7:5778796-5891221	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	nsv605987	chr7:5778796-5891221	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	esv2764038	chr7:5785999-5893967	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
22	nsv464296	chr7:5792745-5850642	Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv605988	chr7:5792745-5850642	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	nsv471315	chr7:5792745-5891221	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr7:5753200-5794400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:5762000-5820400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:5768800-5798200	Weak transcription	Colonic Mucosa	Colon
4	chr7:5774200-5800600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:5781400-5799600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:5781400-5816800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:5782800-5794400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr7:5783600-5798200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:5784000-5819600	Weak transcription	Fetal Heart	heart
10	chr7:5784200-5798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:5785000-5795400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr7:5785200-5807000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:5785600-5794200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr7:5786000-5798000	Weak transcription	Fetal Brain Male	brain
15	chr7:5786200-5795000	Weak transcription	HUVEC	blood vessel
16	chr7:5787800-5794600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:5789000-5794200	Strong transcription	Fetal Thymus	thymus
18	chr7:5789800-5794400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:5790000-5795000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:5790200-5795000	Weak transcription	HMEC	breast
21	chr7:5790400-5794800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:5790400-5800600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:5790400-5804600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:5790600-5794400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:5790800-5798200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:5790800-5798200	Weak transcription	Esophagus	oesophagus
27	chr7:5790800-5820400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:5791000-5796200	Weak transcription	Ovary	ovary
29	chr7:5791000-5796400	Weak transcription	Fetal Intestine Small	intestine
30	chr7:5791000-5797200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:5791200-5794800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:5791200-5798000	Weak transcription	Aorta	Aorta
33	chr7:5791400-5798200	Weak transcription	Fetal Brain Female	brain
34	chr7:5791400-5798200	Weak transcription	NHLF	lung
35	chr7:5791600-5794200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:5792400-5797800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:5792400-5798200	Weak transcription	Brain Germinal Matrix	brain
38	chr7:5792600-5794800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:5792600-5794800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr7:5792600-5794800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:5792600-5794800	Weak transcription	Brain Angular Gyrus	brain
42	chr7:5792600-5794800	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:5792600-5794800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr7:5792600-5794800	Weak transcription	HSMMtube	muscle
45	chr7:5792600-5795000	Weak transcription	Psoas Muscle	Psoas
46	chr7:5792600-5795000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:5792600-5795000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr7:5792600-5795200	Weak transcription	Hela-S3	cervix
49	chr7:5792600-5795400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:5792600-5795600	Weak transcription	Fetal Intestine Large	intestine

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