Variant report

Variant	rs2214963
Chromosome Location	chr7:50762742-50762743
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50739761..50742515-chr7:50760323..50762831,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1019000	0.88[ASN][1000 genomes]
rs1024531	0.88[ASN][1000 genomes]
rs10265504	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11238297	0.82[ASN][1000 genomes]
rs11763072	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11763778	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11765762	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12668316	0.91[ASN][1000 genomes]
rs13311390	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2058014	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074777	0.90[ASN][1000 genomes]
rs2108349	0.82[ASN][1000 genomes]
rs2190502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237490	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2299153	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329489	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779072	0.94[YRI][hapmap];0.88[AFR][1000 genomes]
rs3801000	0.87[ASN][1000 genomes]
rs4521715	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4947806	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6943153	0.92[ASN][1000 genomes]
rs6967612	0.90[ASN][1000 genomes]
rs7793570	0.89[ASN][1000 genomes]
rs7809623	0.90[ASN][1000 genomes]
rs7809775	0.85[ASN][1000 genomes]
rs933360	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50738800-50765400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:50742200-50765200	Weak transcription	NHLF	lung
3	chr7:50742600-50763000	Weak transcription	HSMM	muscle
4	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
5	chr7:50745800-50769600	Weak transcription	Gastric	stomach
6	chr7:50746000-50765200	Weak transcription	Stomach Mucosa	stomach
7	chr7:50750000-50778600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:50752800-50765200	Weak transcription	Fetal Intestine Large	intestine
9	chr7:50753800-50765000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:50753800-50770000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:50755400-50777000	Weak transcription	Esophagus	oesophagus
12	chr7:50755600-50765200	Weak transcription	Fetal Intestine Small	intestine
13	chr7:50755600-50768400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:50755800-50768400	Weak transcription	A549	lung
15	chr7:50756200-50764600	Weak transcription	Adipose Nuclei	Adipose
16	chr7:50756200-50770000	Weak transcription	NHDF-Ad	bronchial
17	chr7:50756200-50779200	Weak transcription	Osteobl	bone
18	chr7:50756400-50769800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:50756400-50769800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:50757000-50771400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:50757000-50775000	Weak transcription	Psoas Muscle	Psoas
22	chr7:50757400-50764600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:50757400-50765400	Weak transcription	Ovary	ovary
24	chr7:50757400-50771200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:50757400-50772600	Weak transcription	Aorta	Aorta
26	chr7:50757600-50768200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:50757600-50768400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:50758800-50763200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:50758800-50765000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:50758800-50765200	Weak transcription	Fetal Brain Female	brain
31	chr7:50758800-50771600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr7:50758800-50779400	Weak transcription	Fetal Kidney	kidney
33	chr7:50759200-50768200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:50759200-50769800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:50760000-50763000	Genic enhancers	HUVEC	blood vessel
36	chr7:50760000-50763200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:50760400-50764600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr7:50760800-50764000	Strong transcription	K562	blood
39	chr7:50761000-50763000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr7:50761200-50764200	Enhancers	Liver	Liver
41	chr7:50761400-50762800	Enhancers	Lung	lung
42	chr7:50761400-50762800	Genic enhancers	Pancreas	Pancrea
43	chr7:50761400-50763000	Enhancers	Left Ventricle	heart
44	chr7:50761400-50765200	Weak transcription	Brain Angular Gyrus	brain
45	chr7:50761600-50762800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr7:50761600-50763400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:50761600-50763400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr7:50761600-50764200	Weak transcription	Small Intestine	intestine
49	chr7:50761600-50764600	Weak transcription	Fetal Stomach	stomach
50	chr7:50761600-50765000	Weak transcription	Brain Substantia Nigra	brain

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