Variant report

Variant	rs62439717
Chromosome Location	chr7:21527820-21527821
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:21518649..21521288-chr7:21525941..21527838,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11508471	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2237304	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2237305	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2282893	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2282902	0.80[EUR][1000 genomes]
rs55672935	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55844648	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59497715	0.81[ASN][1000 genomes]
rs62439716	0.93[EUR][1000 genomes]
rs6943809	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6954187	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6974789	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976865	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7790804	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[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	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1028434	chr7:21468437-21636671	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1023655	chr7:21486485-21727016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538801	chr7:21486485-21727016	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv830921	chr7:21489100-21688016	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21470400-21536400	Weak transcription	Esophagus	oesophagus
2	chr7:21487400-21557000	Weak transcription	Aorta	Aorta
3	chr7:21491000-21536400	Weak transcription	Left Ventricle	heart
4	chr7:21492200-21545200	Weak transcription	Small Intestine	intestine
5	chr7:21493000-21539000	Weak transcription	Spleen	Spleen
6	chr7:21493800-21529600	Weak transcription	Brain Anterior Caudate	brain
7	chr7:21498200-21532400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:21498600-21543600	Weak transcription	Pancreas	Pancrea
9	chr7:21500000-21530400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:21500000-21552800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:21500400-21529800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:21501400-21528800	Weak transcription	Thymus	Thymus
13	chr7:21501400-21531000	Weak transcription	Fetal Intestine Large	intestine
14	chr7:21503200-21532400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:21503200-21532400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:21504000-21532800	Weak transcription	Lung	lung
17	chr7:21505600-21536600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:21506200-21529800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr7:21510200-21530200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:21510800-21531800	Weak transcription	Fetal Intestine Small	intestine
21	chr7:21511600-21531800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:21512800-21529800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:21514000-21536400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr7:21515400-21528400	Weak transcription	Fetal Brain Male	brain
25	chr7:21516200-21556400	Weak transcription	Brain Substantia Nigra	brain
26	chr7:21516400-21530400	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:21517000-21556000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:21517400-21532200	Weak transcription	A549	lung
29	chr7:21518000-21532400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:21518200-21529800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:21518200-21530200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:21518200-21532200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:21518200-21536400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:21518200-21536400	Weak transcription	Fetal Kidney	kidney
35	chr7:21518600-21530000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:21518800-21532000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:21519200-21529800	Weak transcription	Brain Germinal Matrix	brain
38	chr7:21520800-21532000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:21520800-21552800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:21521000-21532000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:21521000-21532400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr7:21521200-21552600	Weak transcription	Brain Angular Gyrus	brain
43	chr7:21521800-21529800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:21522000-21529600	Weak transcription	Fetal Thymus	thymus
45	chr7:21522000-21533800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:21522400-21532200	Weak transcription	Adipose Nuclei	Adipose
47	chr7:21522600-21530000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:21522800-21528800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr7:21522800-21529800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:21522800-21529800	Weak transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links