Variant report

Variant	rs6967634
Chromosome Location	chr7:139448455-139448456
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	chr7:139443425..139445676-chr7:139446991..139448949,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1015121	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224408	0.83[CEU][hapmap];0.94[EUR][1000 genomes]
rs10230692	0.94[EUR][1000 genomes]
rs10254826	0.96[EUR][1000 genomes]
rs10268753	0.94[EUR][1000 genomes]
rs10278124	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs1106768	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12374779	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12374780	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17177103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17177358	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17177953	0.81[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes]
rs17262390	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17262662	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17262676	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074826	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs4074827	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs55826011	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56079671	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56840127	0.93[EUR][1000 genomes]
rs61054086	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73158611	0.96[EUR][1000 genomes]
rs73158613	0.96[EUR][1000 genomes]
rs73158614	0.96[EUR][1000 genomes]
rs73158616	0.95[EUR][1000 genomes]
rs73735624	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs740818	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787807	0.96[EUR][1000 genomes]
rs7793114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7798740	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription 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	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers 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	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139432200-139461800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:139432400-139458600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:139432800-139469800	Weak transcription	Hela-S3	cervix
4	chr7:139433400-139455800	Enhancers	Brain Angular Gyrus	brain
5	chr7:139434800-139450800	Enhancers	Fetal Heart	heart
6	chr7:139437600-139452800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:139438200-139451800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:139438400-139452600	Weak transcription	Placenta	Placenta
9	chr7:139438400-139462800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:139438400-139467000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr7:139438600-139462600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:139438800-139466200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:139439000-139452600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:139439000-139462800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:139439800-139450200	Weak transcription	Primary T cells from cord blood	blood
16	chr7:139440400-139449200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr7:139440400-139451400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:139440600-139454600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:139440600-139454600	Weak transcription	Fetal Brain Female	brain
20	chr7:139440600-139456000	Enhancers	Brain Anterior Caudate	brain
21	chr7:139440600-139457600	Enhancers	Brain Substantia Nigra	brain
22	chr7:139440600-139474600	Weak transcription	Fetal Brain Male	brain
23	chr7:139441000-139450800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr7:139441000-139458400	Enhancers	Brain Hippocampus Middle	brain
25	chr7:139441200-139450600	Enhancers	Brain Cingulate Gyrus	brain
26	chr7:139441400-139451400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:139441600-139451800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:139441600-139452600	Weak transcription	Fetal Intestine Large	intestine
29	chr7:139442000-139448600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr7:139442400-139450600	Enhancers	Adipose Nuclei	Adipose
31	chr7:139442400-139451200	Enhancers	Right Atrium	heart
32	chr7:139442400-139462000	Weak transcription	HUVEC	blood vessel
33	chr7:139442600-139450000	Enhancers	Psoas Muscle	Psoas
34	chr7:139442800-139450600	Enhancers	Right Ventricle	heart
35	chr7:139444000-139466000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:139444200-139449200	Weak transcription	HSMMtube	muscle
37	chr7:139444200-139450000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:139444200-139450000	Enhancers	Left Ventricle	heart
39	chr7:139444600-139450400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr7:139444600-139450600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:139444600-139462600	Weak transcription	NHEK	skin
42	chr7:139444800-139448600	Enhancers	Ovary	ovary
43	chr7:139444800-139454400	Enhancers	Fetal Thymus	thymus
44	chr7:139445400-139450600	Enhancers	Liver	Liver
45	chr7:139445600-139453600	Weak transcription	Small Intestine	intestine
46	chr7:139445800-139449000	Enhancers	Thymus	Thymus
47	chr7:139445800-139449400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr7:139445800-139452600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr7:139445800-139460600	Weak transcription	HMEC	breast
50	chr7:139445800-139466000	Weak transcription	Primary hematopoietic stem cells	blood

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