Variant report

Variant	rs17755756
Chromosome Location	chr2:99360847-99360848
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99359454..99362384-chr2:99372139..99374340,2	MCF-7	breast:
2	chr2:99346209..99349698-chr2:99359488..99362618,3	MCF-7	breast:
3	chr2:99356397..99359071-chr2:99359903..99362484,2	K562	blood:

Variant related genes	Relation type
ENSG00000071073	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11679648	0.82[ASW][hapmap]
rs11899659	0.93[EUR][1000 genomes]
rs12464562	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12467276	0.86[MEX][hapmap]
rs12468086	0.86[MEX][hapmap]
rs13012495	0.93[EUR][1000 genomes]
rs17021941	0.86[MEX][hapmap]
rs17514013	1.00[CHD][hapmap]
rs34091873	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34852807	0.93[EUR][1000 genomes]
rs3769689	1.00[CHD][hapmap]
rs4539843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711574	1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882164	0.86[MEX][hapmap]

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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99348400-99367000	Weak transcription	Esophagus	oesophagus
2	chr2:99354600-99364600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr2:99354800-99364000	Weak transcription	Dnd41	blood
4	chr2:99355000-99362200	Weak transcription	Thymus	Thymus
5	chr2:99357200-99361000	Weak transcription	HepG2	liver
6	chr2:99358600-99361400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:99359200-99361400	Enhancers	Pancreas	Pancrea
8	chr2:99359200-99362400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:99359200-99362400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:99359200-99362600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr2:99359200-99362600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:99359200-99362800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:99359200-99363000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:99359400-99362400	Enhancers	Primary T cells from cord blood	blood
15	chr2:99359400-99362400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:99359400-99362400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr2:99359600-99362200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:99359600-99364200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:99359600-99364400	Weak transcription	Placenta	Placenta
20	chr2:99359600-99364400	Weak transcription	Spleen	Spleen
21	chr2:99359600-99367200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:99359600-99374000	Weak transcription	Aorta	Aorta
23	chr2:99359800-99361000	Weak transcription	Gastric	stomach
24	chr2:99359800-99362200	Weak transcription	Right Ventricle	heart
25	chr2:99360000-99362400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr2:99360200-99361400	Enhancers	Left Ventricle	heart
27	chr2:99360200-99361600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:99360400-99361200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr2:99360400-99361200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:99360400-99361200	Enhancers	HUVEC	blood vessel
31	chr2:99360400-99361400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:99360400-99361400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr2:99360400-99362600	Enhancers	Fetal Heart	heart
34	chr2:99360600-99361200	Enhancers	Fetal Thymus	thymus
35	chr2:99360600-99361200	Weak transcription	HMEC	breast
36	chr2:99360600-99361400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:99360600-99361400	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr2:99360600-99361400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:99360600-99361400	Enhancers	Adipose Nuclei	Adipose
40	chr2:99360600-99361400	Enhancers	Duodenum Mucosa	Duodenum
41	chr2:99360600-99361400	Enhancers	Right Atrium	heart
42	chr2:99360800-99361000	Weak transcription	Lung	lung
43	chr2:99360800-99361400	Enhancers	Small Intestine	intestine

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