Variant report

Variant	rs859622
Chromosome Location	chr1:172687258-172687259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172686833..172688972-chr1:172691671..172694173,3	K562	blood:
2	chr1:172575736..172579106-chr1:172685787..172690333,5	MCF-7	breast:
3	chr1:172422603..172424142-chr1:172686598..172688545,2	K562	blood:
4	chr1:172502079..172503900-chr1:172686438..172689153,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000094975	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1102704	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs704847	0.85[EUR][1000 genomes]
rs859623	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs859629	0.86[EUR][1000 genomes]
rs859633	0.80[TSI][hapmap]
rs859641	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs859673	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs859622	SELP	cis	cerebellum	SCAN
rs859622	C1orf112	cis	parietal	SCAN
rs859622	CD247	cis	parietal	SCAN
rs859622	ATP1B1	cis	cerebellum	SCAN
rs859622	C1orf114	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172683400-172689200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:172684000-172688000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:172684000-172688400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:172684000-172689000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:172684000-172692400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:172685000-172690400	Enhancers	Placenta	Placenta
7	chr1:172685400-172687400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:172685400-172687400	Enhancers	HepG2	liver
9	chr1:172685400-172687600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:172685400-172689200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:172685800-172689000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:172685800-172689000	Weak transcription	Left Ventricle	heart
13	chr1:172686000-172687800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:172686000-172688400	Enhancers	Fetal Intestine Large	intestine
15	chr1:172686000-172688600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:172686000-172688600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:172686000-172688600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:172686000-172693600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:172686200-172688400	Weak transcription	Dnd41	blood
20	chr1:172686200-172693800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr1:172686200-172693800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr1:172686200-172693800	Weak transcription	Fetal Thymus	thymus
23	chr1:172686400-172688400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:172686600-172687400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:172686600-172687400	Enhancers	A549	lung
26	chr1:172686600-172687600	Enhancers	NHEK	skin
27	chr1:172686600-172687800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr1:172686600-172688400	Enhancers	Osteobl	bone
29	chr1:172686800-172688000	Enhancers	K562	blood
30	chr1:172686800-172688600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:172686800-172688600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:172686800-172689200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:172686800-172689200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:172687000-172687400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:172687000-172687800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr1:172687000-172688400	Enhancers	HMEC	breast
37	chr1:172687000-172688800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:172687000-172689400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:172687000-172689600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:172687000-172689800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr1:172687200-172687600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:172687200-172687800	Weak transcription	NHDF-Ad	bronchial
43	chr1:172687200-172688200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:172687200-172689200	Enhancers	NHLF	lung

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