Variant report

Variant	rs5762797
Chromosome Location	chr22:29186531-29186532
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29186338..29186896-chr22:29218806..29219506,2	MCF-7	breast:
2	chr22:29186382..29188541-chr22:29433389..29436564,3	MCF-7	breast:
3	chr22:29145305..29148162-chr22:29185055..29187826,2	K562	blood:
4	chr22:29151815..29154169-chr22:29184646..29186865,2	MCF-7	breast:
5	chr22:29185898..29186822-chr22:29225037..29225561,2	MCF-7	breast:
6	chr22:29186451..29187232-chr22:29209500..29210286,3	MCF-7	breast:
7	chr22:28995746..28997516-chr22:29186158..29188253,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs5752797	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5762799	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5762813	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7285695	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29169800-29190400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:29170000-29190200	Weak transcription	Fetal Heart	heart
3	chr22:29170000-29194200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr22:29171200-29186800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:29171200-29188600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:29173800-29193000	Weak transcription	Right Atrium	heart
7	chr22:29176800-29190200	Weak transcription	Hela-S3	cervix
8	chr22:29180400-29191000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:29180600-29191000	Weak transcription	Small Intestine	intestine
10	chr22:29180800-29189800	Weak transcription	HMEC	breast
11	chr22:29180800-29190200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr22:29181600-29191000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:29182000-29188600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr22:29182000-29191000	Weak transcription	Fetal Brain Male	brain
15	chr22:29182200-29188600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr22:29182200-29188600	Weak transcription	Lung	lung
17	chr22:29182400-29190000	Weak transcription	Stomach Mucosa	stomach
18	chr22:29182400-29190000	Weak transcription	HSMMtube	muscle
19	chr22:29182400-29190000	Weak transcription	NHEK	skin
20	chr22:29182400-29190200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr22:29182400-29190800	Weak transcription	Gastric	stomach
22	chr22:29182400-29191200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr22:29182600-29189800	Weak transcription	NHLF	lung
24	chr22:29182600-29190200	Weak transcription	A549	lung
25	chr22:29182600-29190800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr22:29182600-29191000	Weak transcription	Ovary	ovary
27	chr22:29182600-29191200	Weak transcription	Esophagus	oesophagus
28	chr22:29182800-29190000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr22:29182800-29190000	Weak transcription	Right Ventricle	heart
30	chr22:29182800-29190400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr22:29183000-29186800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr22:29183000-29190000	Weak transcription	Brain Anterior Caudate	brain
33	chr22:29183000-29190000	Weak transcription	Fetal Kidney	kidney
34	chr22:29183000-29190000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr22:29183000-29190200	Weak transcription	K562	blood
36	chr22:29183200-29189200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr22:29183200-29189800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr22:29183200-29190000	Weak transcription	Brain Substantia Nigra	brain
39	chr22:29183400-29190000	Weak transcription	Psoas Muscle	Psoas
40	chr22:29183600-29186800	Weak transcription	Primary B cells from cord blood	blood
41	chr22:29183600-29190000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr22:29183600-29190200	Genic enhancers	Dnd41	blood
43	chr22:29183600-29191000	Weak transcription	Spleen	Spleen
44	chr22:29183800-29188000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr22:29183800-29189000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr22:29183800-29190000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr22:29183800-29190200	Weak transcription	Colonic Mucosa	Colon
48	chr22:29183800-29191000	Weak transcription	Aorta	Aorta
49	chr22:29184000-29190000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr22:29184200-29190600	Weak transcription	Brain Germinal Matrix	brain

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