Variant report

Variant	rs34500452
Chromosome Location	chr7:8174721-8174722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10215221	0.95[ASN][1000 genomes]
rs11983637	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16872626	1.00[EUR][1000 genomes]
rs17143586	1.00[EUR][1000 genomes]
rs17847173	0.83[ASN][1000 genomes]
rs2058522	0.95[ASN][1000 genomes]
rs2058523	0.95[ASN][1000 genomes]
rs2192346	0.95[ASN][1000 genomes]
rs3779371	0.83[ASN][1000 genomes]
rs3807845	1.00[ASN][1000 genomes]
rs59897701	1.00[ASN][1000 genomes]
rs6463769	0.85[ASN][1000 genomes]
rs6945305	0.95[ASN][1000 genomes]
rs6973579	0.85[ASN][1000 genomes]
rs7794722	1.00[ASN][1000 genomes]
rs7795490	0.81[AMR][1000 genomes];1.00[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	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1020686	chr7:8095118-8311985	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv538723	chr7:8095118-8311985	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv3350798	chr7:8174587-8175021	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8150600-8200000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:8152600-8183200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr7:8155800-8185600	Weak transcription	Fetal Heart	heart
4	chr7:8159200-8186600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:8162000-8177400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:8162400-8192800	Weak transcription	Colonic Mucosa	Colon
7	chr7:8166000-8179600	Weak transcription	Right Ventricle	heart
8	chr7:8166000-8179800	Weak transcription	Gastric	stomach
9	chr7:8166000-8180200	Weak transcription	Fetal Intestine Large	intestine
10	chr7:8166000-8180200	Weak transcription	Spleen	Spleen
11	chr7:8166000-8186600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:8167800-8179800	Weak transcription	Lung	lung
13	chr7:8167800-8192200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:8168000-8183200	Weak transcription	Left Ventricle	heart
15	chr7:8168400-8179800	Weak transcription	Pancreas	Pancrea
16	chr7:8168400-8180000	Weak transcription	Fetal Stomach	stomach
17	chr7:8168800-8179800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:8169200-8186600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:8170000-8192000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:8170200-8175200	Enhancers	Fetal Thymus	thymus
21	chr7:8170200-8179800	Weak transcription	Fetal Intestine Small	intestine
22	chr7:8172000-8175400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:8172000-8180000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr7:8172200-8175600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:8172400-8175000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr7:8172400-8187400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:8172400-8215800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:8172600-8175400	Enhancers	GM12878-XiMat	blood
29	chr7:8172600-8175800	Enhancers	Primary T cells from cord blood	blood
30	chr7:8172800-8175800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:8172800-8179800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:8172800-8180800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:8173000-8177400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:8173000-8188400	Weak transcription	Primary B cells from cord blood	blood
35	chr7:8174000-8182800	Weak transcription	Adipose Nuclei	Adipose
36	chr7:8174000-8184600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:8174200-8175200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:8174200-8175400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr7:8174200-8175400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:8174200-8175400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr7:8174200-8176800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:8174400-8175200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr7:8174400-8175400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr7:8174400-8175400	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr7:8174400-8175600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:8174400-8176200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr7:8174600-8175000	Weak transcription	Fetal Kidney	kidney
48	chr7:8174600-8175600	Weak transcription	K562	blood
49	chr7:8174600-8176600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links