Variant report

Variant	rs291453
Chromosome Location	chr2:191160196-191160197
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 49 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1114863	0.85[AFR][1000 genomes]
rs12693568	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs172366	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1876877	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2136566	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2136569	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2582735	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2582736	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2582746	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2582749	0.83[AFR][1000 genomes]
rs2582766	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582770	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2664242	0.80[AFR][1000 genomes]
rs2664251	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2664252	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2664253	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2664259	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2664260	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs291412	0.80[AFR][1000 genomes]
rs291427	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs291428	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs291429	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs291430	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs291431	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs291435	0.82[AFR][1000 genomes]
rs291439	0.82[AFR][1000 genomes]
rs291444	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs291445	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs291447	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs291448	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs291449	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs291450	0.85[AFR][1000 genomes]
rs291451	0.85[AFR][1000 genomes]
rs291458	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs291459	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs291460	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs291461	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs291462	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs291464	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291466	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291468	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs291470	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs291472	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2919677	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62184386	0.90[ASN][1000 genomes]
rs6434387	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72915455	0.86[ASN][1000 genomes]
rs906916	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][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
rs291453	HIBCH	cis	lung	GTEx
rs291453	HIBCH	cis	Thyroid	GTEx
rs291453	HIBCH	cis	Muscle Skeletal	GTEx
rs291453	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs291453	HIBCH	cis	Stomach	GTEx
rs291453	HIBCH	cis	multi-tissue	Pritchard
rs291453	HIBCH	cis	Heart Left Ventricle	GTEx
rs291453	HIBCH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 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	chr2:191105000-191180000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:191108200-191180000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:191109800-191163000	Weak transcription	Brain Germinal Matrix	brain
5	chr2:191115600-191162200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:191115600-191182000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:191116600-191183200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:191117400-191183600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:191121000-191181400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:191123200-191177600	Weak transcription	Colonic Mucosa	Colon
11	chr2:191132600-191180200	Weak transcription	NH-A	brain
12	chr2:191135600-191183200	Weak transcription	Fetal Brain Male	brain
13	chr2:191137400-191183200	Weak transcription	A549	lung
14	chr2:191140000-191165600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:191141800-191183000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:191142400-191173200	Weak transcription	NHLF	lung
17	chr2:191142600-191180200	Weak transcription	Hela-S3	cervix
18	chr2:191142600-191181200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:191143000-191167000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:191143000-191183000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:191143200-191162000	Strong transcription	Liver	Liver
22	chr2:191144400-191165600	Weak transcription	Stomach Mucosa	stomach
23	chr2:191145200-191164800	Weak transcription	Fetal Brain Female	brain
24	chr2:191145200-191166200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:191145600-191183200	Weak transcription	HUVEC	blood vessel
26	chr2:191145800-191166000	Weak transcription	Right Ventricle	heart
27	chr2:191145800-191183000	Weak transcription	HMEC	breast
28	chr2:191146000-191160600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:191146000-191171000	Weak transcription	Psoas Muscle	Psoas
30	chr2:191146000-191181200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:191146000-191181800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:191146200-191165800	Weak transcription	Brain Substantia Nigra	brain
33	chr2:191146400-191172600	Weak transcription	HSMMtube	muscle
34	chr2:191146600-191166800	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:191148400-191161800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:191148600-191161400	Strong transcription	Fetal Thymus	thymus
37	chr2:191149000-191173400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:191149200-191176600	Weak transcription	NHEK	skin
39	chr2:191149200-191183200	Weak transcription	Fetal Kidney	kidney
40	chr2:191149600-191161600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:191149800-191162800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:191150000-191162200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:191150800-191173200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:191150800-191173800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr2:191151000-191160800	Weak transcription	Spleen	Spleen
46	chr2:191151000-191170800	Weak transcription	Lung	lung
47	chr2:191151000-191182800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:191151000-191183000	Weak transcription	Esophagus	oesophagus
49	chr2:191151200-191166800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:191151200-191171000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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