Variant report

Variant	rs6980335
Chromosome Location	chr7:137566421-137566422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137561745..137565223-chr7:137565375..137570123,4	K562	blood:
2	chr7:137553992..137556537-chr7:137565349..137567056,2	K562	blood:
3	chr7:137562154..137564910-chr7:137565375..137570111,4	K562	blood:
4	chr7:137463588..137466305-chr7:137566115..137567635,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10243295	1.00[TSI][hapmap]
rs10261211	1.00[TSI][hapmap]
rs10954590	1.00[GIH][hapmap]
rs12673967	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17169441	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1871214	1.00[TSI][hapmap]
rs3735019	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3735020	1.00[GIH][hapmap]
rs6467716	1.00[TSI][hapmap]
rs6958842	0.91[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6959012	1.00[GIH][hapmap]
rs6960308	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960313	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs6976928	1.00[GIH][hapmap]
rs6977828	1.00[EUR][1000 genomes]
rs7788967	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137533800-137575400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:137543400-137566800	Strong transcription	Placenta	Placenta
3	chr7:137547800-137567200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:137551200-137569400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:137555600-137583200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr7:137556000-137566800	Strong transcription	GM12878-XiMat	blood
7	chr7:137556000-137570800	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr7:137556000-137573600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:137557000-137566800	Strong transcription	Fetal Intestine Large	intestine
10	chr7:137557000-137570600	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr7:137557200-137566800	Strong transcription	Duodenum Mucosa	Duodenum
12	chr7:137557400-137567200	Genic enhancers	Osteobl	bone
13	chr7:137557800-137583800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:137558200-137566800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr7:137558200-137566800	Strong transcription	Liver	Liver
16	chr7:137558400-137566800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:137558400-137571600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr7:137558400-137579200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:137558800-137588400	Weak transcription	Stomach Mucosa	stomach
20	chr7:137559400-137568600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:137559400-137575200	Strong transcription	HepG2	liver
22	chr7:137560000-137567000	Strong transcription	HUVEC	blood vessel
23	chr7:137560000-137570600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:137560000-137570800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:137560200-137566800	Strong transcription	Pancreas	Pancrea
26	chr7:137561000-137577000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr7:137561800-137566800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:137562200-137566800	Weak transcription	Fetal Thymus	thymus
29	chr7:137562600-137566800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:137562600-137567200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:137562600-137570600	Strong transcription	Primary T cells from cord blood	blood
32	chr7:137562600-137570600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr7:137562600-137570800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:137562600-137570800	Strong transcription	Ovary	ovary
35	chr7:137562600-137571200	Strong transcription	Primary B cells from cord blood	blood
36	chr7:137562800-137566800	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:137563000-137568600	Genic enhancers	HSMM	muscle
38	chr7:137563000-137568800	Genic enhancers	NHDF-Ad	bronchial
39	chr7:137563200-137567200	Genic enhancers	NHLF	lung
40	chr7:137563200-137570400	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:137563200-137572200	Strong transcription	Colonic Mucosa	Colon
42	chr7:137563400-137568200	Genic enhancers	NHEK	skin
43	chr7:137563400-137570600	Strong transcription	Left Ventricle	heart
44	chr7:137563400-137570800	Strong transcription	Stomach Smooth Muscle	stomach
45	chr7:137563400-137575200	Weak transcription	Psoas Muscle	Psoas
46	chr7:137563600-137567200	Genic enhancers	NH-A	brain
47	chr7:137563800-137570200	Genic enhancers	Muscle Satellite Cultured Cells	--
48	chr7:137564000-137567200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:137564200-137567000	Strong transcription	Small Intestine	intestine
50	chr7:137564400-137567200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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