Variant report

Variant	rs6717971
Chromosome Location	chr2:233931821-233931822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11901748	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4075111	0.83[ASN][1000 genomes]
rs55749303	0.95[ASN][1000 genomes]
rs55816734	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55827216	1.00[ASN][1000 genomes]
rs56359974	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61487211	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704948	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6717732	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982218	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982221	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72982225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982242	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72982244	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601830	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7606583	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv876012	chr2:233899377-233996429	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233928200-233933400	Weak transcription	Right Ventricle	heart
2	chr2:233928800-233932000	Weak transcription	Fetal Stomach	stomach
3	chr2:233928800-233932800	Weak transcription	Fetal Intestine Small	intestine
4	chr2:233928800-233933800	Genic enhancers	Primary B cells from cord blood	blood
5	chr2:233928800-233934200	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr2:233929000-233932600	Weak transcription	Esophagus	oesophagus
7	chr2:233929000-233936000	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr2:233929000-233939800	Weak transcription	Left Ventricle	heart
9	chr2:233929000-233940200	Weak transcription	Gastric	stomach
10	chr2:233929200-233933600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:233929200-233933600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:233929200-233940000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:233929400-233932000	Strong transcription	Thymus	Thymus
14	chr2:233929400-233933200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:233929400-233933600	Weak transcription	Lung	lung
16	chr2:233929600-233933800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:233929800-233932800	Strong transcription	Fetal Thymus	thymus
18	chr2:233929800-233933600	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:233929800-233934000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:233929800-233935400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr2:233930000-233932400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:233930000-233933200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:233930000-233933200	Weak transcription	Adipose Nuclei	Adipose
24	chr2:233930000-233933400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:233930000-233933600	Weak transcription	Colonic Mucosa	Colon
26	chr2:233930200-233933400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:233930800-233932000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
28	chr2:233930800-233932200	Strong transcription	Primary T cells from cord blood	blood
29	chr2:233930800-233932200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr2:233930800-233932400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:233930800-233932600	Genic enhancers	Primary monocytes fromperipheralblood	blood
32	chr2:233930800-233932600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:233930800-233932600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
34	chr2:233930800-233932800	Strong transcription	Primary hematopoietic stem cells	blood
35	chr2:233930800-233934000	Genic enhancers	Spleen	Spleen
36	chr2:233930800-233934600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr2:233931000-233932400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:233931000-233932600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:233931000-233932800	Enhancers	NHEK	skin
40	chr2:233931000-233935800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr2:233931200-233932800	Enhancers	HepG2	liver
42	chr2:233931200-233932800	Enhancers	HMEC	breast
43	chr2:233931400-233932000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:233931400-233932400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:233931400-233932600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:233931600-233932400	Enhancers	Small Intestine	intestine
47	chr2:233931600-233932600	Enhancers	Stomach Mucosa	stomach
48	chr2:233931600-233932600	Enhancers	HUVEC	blood vessel
49	chr2:233931600-233932800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr2:233931800-233932000	Strong transcription	Dnd41	blood

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