Variant report

Variant	rs72951167
Chromosome Location	chr2:98356617-98356618
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98326109..98328548-chr2:98356181..98358918,2	MCF-7	breast:
2	chr2:98351879..98353627-chr2:98354938..98356660,2	K562	blood:
3	chr2:98355724..98358443-chr2:98358896..98360638,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs58332522	0.90[AFR][1000 genomes]
rs61043662	0.84[AFR][1000 genomes]
rs6543062	0.90[AFR][1000 genomes]
rs6739810	0.81[AFR][1000 genomes]
rs72942846	0.84[AFR][1000 genomes]
rs72942852	0.84[AFR][1000 genomes]
rs72942859	0.84[AFR][1000 genomes]
rs72942873	0.84[AFR][1000 genomes]
rs72944402	0.94[AFR][1000 genomes]
rs72944837	0.81[AFR][1000 genomes]
rs72944838	0.81[AFR][1000 genomes]
rs72946404	0.87[AFR][1000 genomes]
rs72946446	0.94[AFR][1000 genomes]
rs72946451	0.94[AFR][1000 genomes]
rs72951139	0.90[AFR][1000 genomes]
rs72951143	0.90[AFR][1000 genomes]
rs72951144	0.90[AFR][1000 genomes]
rs72951153	0.90[AFR][1000 genomes]
rs72951165	0.94[AFR][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	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98336400-98361400	Weak transcription	Primary B cells from cord blood	blood
2	chr2:98336600-98358800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:98337800-98357400	Strong transcription	Dnd41	blood
4	chr2:98338800-98358800	Strong transcription	Thymus	Thymus
5	chr2:98339600-98357200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:98342600-98357200	Strong transcription	Primary T cells from cord blood	blood
7	chr2:98343600-98357200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:98344800-98356800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:98345000-98366400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:98346000-98357000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:98347000-98360600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:98347200-98357400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:98347200-98358800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:98348200-98372400	Weak transcription	Esophagus	oesophagus
15	chr2:98348800-98364600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:98349000-98356800	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:98350000-98360400	Weak transcription	Fetal Intestine Small	intestine
18	chr2:98351000-98357000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:98351600-98357200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:98352200-98398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:98353400-98358400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:98354200-98357200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:98354200-98357400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:98354400-98358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:98354400-98368200	Weak transcription	Colonic Mucosa	Colon
26	chr2:98355000-98359600	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr2:98355000-98373200	Weak transcription	Gastric	stomach
28	chr2:98355600-98357000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:98356200-98356800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr2:98356200-98358000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:98356400-98357000	Strong transcription	Fetal Thymus	thymus
32	chr2:98356400-98357800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:98356600-98357000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr2:98356600-98357200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr2:98356600-98358200	Weak transcription	Spleen	Spleen
36	chr2:98356600-98360000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:98356600-98360200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:98356600-98362000	Weak transcription	Colon Smooth Muscle	Colon

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