Variant report

Variant	rs2664250
Chromosome Location	chr2:191147484-191147485
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr2:191147457-191147536	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191146808..191148999-chr2:191158646..191161593,2	K562	blood:

Variant related genes	Relation type
HIBCH	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10168769	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10182490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10192319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10196444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10199308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10204936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11900898	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13406328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13414825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1366676	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1595997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16832459	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2067383	0.89[EUR][1000 genomes]
rs2119463	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2119464	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2195466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2582734	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582756	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2582768	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664257	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291406	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs291408	0.85[ASN][1000 genomes]
rs291416	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291417	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291433	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291443	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs291454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291465	0.80[ASN][1000 genomes]
rs291473	0.89[EUR][1000 genomes]
rs2966469	1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs59924974	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875621	chr2:191117120-191177131	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191060800-191180000	Weak transcription	Small Intestine	intestine
2	chr2:191100000-191150400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:191104400-191151000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:191105000-191180000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:191107400-191150600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:191108200-191180000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:191109800-191163000	Weak transcription	Brain Germinal Matrix	brain
8	chr2:191115600-191162200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:191115600-191182000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:191116600-191183200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:191117400-191183600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:191121000-191181400	Weak transcription	Brain Angular Gyrus	brain
13	chr2:191123200-191150200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:191123200-191150200	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:191123200-191177600	Weak transcription	Colonic Mucosa	Colon
16	chr2:191123400-191150800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:191123400-191160000	Weak transcription	Ovary	ovary
18	chr2:191123600-191150000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:191123600-191150200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:191123600-191150200	Weak transcription	Thymus	Thymus
21	chr2:191123600-191155000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:191123800-191150600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:191123800-191150600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:191123800-191155800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:191124200-191150400	Weak transcription	Esophagus	oesophagus
26	chr2:191124400-191153000	Weak transcription	Placenta	Placenta
27	chr2:191124800-191150400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:191125000-191149800	Weak transcription	Adipose Nuclei	Adipose
29	chr2:191125600-191149800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:191125600-191150200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:191125800-191148400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:191125800-191159000	Weak transcription	HSMM	muscle
33	chr2:191126200-191150000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:191129800-191150400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:191130400-191149600	Weak transcription	Fetal Lung	lung
36	chr2:191132600-191150000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:191132600-191180200	Weak transcription	NH-A	brain
38	chr2:191132800-191148400	Weak transcription	Osteobl	bone
39	chr2:191132800-191150600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:191133000-191148400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:191133000-191150000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr2:191135600-191183200	Weak transcription	Fetal Brain Male	brain
43	chr2:191136000-191150600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:191137000-191150400	Weak transcription	Gastric	stomach
45	chr2:191137400-191148400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:191137400-191183200	Weak transcription	A549	lung
47	chr2:191137600-191148200	Weak transcription	GM12878-XiMat	blood
48	chr2:191137600-191150800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:191137600-191154400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:191140000-191165600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links