Variant report

Variant	rs72951153
Chromosome Location	chr2:98344070-98344071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98336485..98339120-chr2:98342439..98345883,3	K562	blood:
2	chr2:98343226..98345412-chr2:98346689..98348407,3	K562	blood:
3	chr2:98329506..98332077-chr2:98344010..98346831,2	K562	blood:

Variant related genes	Relation type
ENSG00000115085	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58332522	0.93[AFR][1000 genomes]
rs61043662	0.87[AFR][1000 genomes]
rs6543062	1.00[AFR][1000 genomes]
rs72942846	0.87[AFR][1000 genomes]
rs72942852	0.87[AFR][1000 genomes]
rs72942859	0.87[AFR][1000 genomes]
rs72942873	0.87[AFR][1000 genomes]
rs72944402	0.97[AFR][1000 genomes]
rs72946404	0.90[AFR][1000 genomes]
rs72946446	0.97[AFR][1000 genomes]
rs72946451	0.97[AFR][1000 genomes]
rs72951139	1.00[AFR][1000 genomes]
rs72951143	1.00[AFR][1000 genomes]
rs72951144	1.00[AFR][1000 genomes]
rs72951165	0.97[AFR][1000 genomes]
rs72951167	0.90[AFR][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	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
3	nsv10104	chr2:98340272-98345152	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98335000-98344800	Weak transcription	Right Atrium	heart
2	chr2:98336000-98344400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:98336000-98346000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:98336200-98345000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr2:98336200-98345600	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr2:98336200-98345800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr2:98336200-98351200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:98336400-98345000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:98336400-98346000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:98336400-98361400	Weak transcription	Primary B cells from cord blood	blood
11	chr2:98336600-98346200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:98336600-98346200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:98336600-98358800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:98337400-98346600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:98337800-98357400	Strong transcription	Dnd41	blood
16	chr2:98338800-98358800	Strong transcription	Thymus	Thymus
17	chr2:98339200-98345800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr2:98339600-98357200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:98340600-98346600	Weak transcription	Esophagus	oesophagus
20	chr2:98341000-98354800	Weak transcription	Gastric	stomach
21	chr2:98341200-98345800	Enhancers	Fetal Muscle Leg	muscle
22	chr2:98341800-98345800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:98341800-98348000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:98342000-98345600	Enhancers	Fetal Muscle Trunk	muscle
25	chr2:98342000-98345800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:98342000-98346400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:98342000-98347200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr2:98342200-98345600	Enhancers	Fetal Stomach	stomach
29	chr2:98342200-98345600	Enhancers	Left Ventricle	heart
30	chr2:98342400-98346600	Weak transcription	Spleen	Spleen
31	chr2:98342600-98357200	Strong transcription	Primary T cells from cord blood	blood
32	chr2:98342800-98345200	Enhancers	Placenta	Placenta
33	chr2:98343000-98345000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:98343200-98344200	Weak transcription	HSMMtube	muscle
35	chr2:98343200-98344400	Weak transcription	Adipose Nuclei	Adipose
36	chr2:98343200-98344800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr2:98343600-98345200	Enhancers	NHDF-Ad	bronchial
38	chr2:98343600-98357200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:98343800-98344400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:98343800-98344600	Genic enhancers	Fetal Thymus	thymus
41	chr2:98343800-98345200	Enhancers	HSMM	muscle
42	chr2:98344000-98344400	Weak transcription	Right Ventricle	heart
43	chr2:98344000-98344600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr2:98344000-98344800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links