Variant report

Variant	rs2582735
Chromosome Location	chr2:191143798-191143799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191135269..191137265-chr2:191140643..191144192,4	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10931448	0.84[AFR][1000 genomes]
rs12693568	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs172366	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1866849	0.84[AFR][1000 genomes]
rs1866850	0.84[AFR][1000 genomes]
rs1876877	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2136566	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2136569	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2582736	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582743	0.84[AFR][1000 genomes]
rs2582744	0.83[AFR][1000 genomes]
rs2582746	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582766	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2582770	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2582773	0.83[AFR][1000 genomes]
rs2664246	0.86[AFR][1000 genomes]
rs2664247	0.84[AFR][1000 genomes]
rs2664251	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2664252	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2664253	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2664259	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2664260	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs291415	0.81[AFR][1000 genomes]
rs291418	0.83[AFR][1000 genomes]
rs291427	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291428	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291429	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291430	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs291431	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs291437	0.83[AFR][1000 genomes]
rs291438	0.82[AFR][1000 genomes]
rs291444	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291445	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291447	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291448	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs291449	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs291453	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs291458	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs291459	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs291460	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs291461	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs291462	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs291464	0.84[AMR][1000 genomes]
rs291466	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs291468	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs291470	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs291472	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2919677	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6434387	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7590991	0.92[ASN][1000 genomes]
rs906916	0.88[AMR][1000 genomes];0.93[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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2582735	HIBCH	cis	Thyroid	GTEx
rs2582735	HIBCH	cis	lung	GTEx
rs2582735	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs2582735	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs2582735	HIBCH	cis	Muscle Skeletal	GTEx
rs2582735	HIBCH	cis	multi-tissue	Pritchard
rs2582735	HIBCH	cis	Stomach	GTEx
rs2582735	HIBCH	cis	Heart Left Ventricle	GTEx

Chromatin state (count:110 , 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	chr2:191110000-191145400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:191115600-191162200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:191115600-191182000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:191116600-191183200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:191117400-191183600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:191121000-191181400	Weak transcription	Brain Angular Gyrus	brain
14	chr2:191121200-191145200	Weak transcription	Aorta	Aorta
15	chr2:191123200-191145600	Weak transcription	Brain Substantia Nigra	brain
16	chr2:191123200-191145800	Weak transcription	HSMMtube	muscle
17	chr2:191123200-191150200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:191123200-191150200	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:191123200-191177600	Weak transcription	Colonic Mucosa	Colon
20	chr2:191123400-191143800	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:191123400-191144600	Weak transcription	Lung	lung
22	chr2:191123400-191150800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:191123400-191160000	Weak transcription	Ovary	ovary
24	chr2:191123600-191150000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:191123600-191150200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:191123600-191150200	Weak transcription	Thymus	Thymus
27	chr2:191123600-191155000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:191123800-191150600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:191123800-191150600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:191123800-191155800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:191124200-191150400	Weak transcription	Esophagus	oesophagus
32	chr2:191124400-191144600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:191124400-191153000	Weak transcription	Placenta	Placenta
34	chr2:191124800-191150400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:191125000-191149800	Weak transcription	Adipose Nuclei	Adipose
36	chr2:191125600-191147000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:191125600-191149800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:191125600-191150200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:191125800-191148400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:191125800-191159000	Weak transcription	HSMM	muscle
41	chr2:191126200-191150000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:191126800-191143800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:191126800-191145200	Weak transcription	Left Ventricle	heart
44	chr2:191129800-191150400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:191130400-191149600	Weak transcription	Fetal Lung	lung
46	chr2:191130600-191143800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:191132200-191145000	Weak transcription	Fetal Intestine Small	intestine
48	chr2:191132200-191145000	Weak transcription	Fetal Stomach	stomach
49	chr2:191132600-191150000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:191132600-191180200	Weak transcription	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links