Variant report

Variant	rs291444
Chromosome Location	chr2:191176223-191176224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12693568	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13006833	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs172366	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1876877	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2136566	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2136569	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2582735	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2582736	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2582746	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2582766	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2582770	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2664251	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2664252	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2664253	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2664259	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2664260	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs291427	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs291428	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs291429	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs291430	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs291431	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs291445	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291447	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291448	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs291449	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs291453	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs291458	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs291459	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs291460	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs291461	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs291462	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs291464	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs291466	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs291468	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs291470	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs291472	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2919677	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6434387	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7590991	0.89[ASN][1000 genomes]
rs906916	0.89[AMR][1000 genomes];0.99[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
rs291444	HIBCH	cis	Thyroid	GTEx
rs291444	HIBCH	cis	Heart Left Ventricle	GTEx
rs291444	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs291444	HIBCH	cis	Stomach	GTEx
rs291444	HIBCH	cis	multi-tissue	Pritchard
rs291444	HIBCH	cis	lung	GTEx
rs291444	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs291444	HIBCH	cis	Muscle Skeletal	GTEx

Chromatin state (count:119 , 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	chr2:191115600-191182000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:191116600-191183200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:191117400-191183600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:191121000-191181400	Weak transcription	Brain Angular Gyrus	brain
8	chr2:191123200-191177600	Weak transcription	Colonic Mucosa	Colon
9	chr2:191132600-191180200	Weak transcription	NH-A	brain
10	chr2:191135600-191183200	Weak transcription	Fetal Brain Male	brain
11	chr2:191137400-191183200	Weak transcription	A549	lung
12	chr2:191141800-191183000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:191142600-191180200	Weak transcription	Hela-S3	cervix
14	chr2:191142600-191181200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:191143000-191183000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:191145600-191183200	Weak transcription	HUVEC	blood vessel
17	chr2:191145800-191183000	Weak transcription	HMEC	breast
18	chr2:191146000-191181200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:191146000-191181800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:191149200-191176600	Weak transcription	NHEK	skin
21	chr2:191149200-191183200	Weak transcription	Fetal Kidney	kidney
22	chr2:191151000-191182800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:191151000-191183000	Weak transcription	Esophagus	oesophagus
24	chr2:191151400-191179200	Weak transcription	Pancreas	Pancrea
25	chr2:191151400-191179800	Weak transcription	Fetal Heart	heart
26	chr2:191151400-191180800	Weak transcription	Aorta	Aorta
27	chr2:191151400-191183000	Weak transcription	Gastric	stomach
28	chr2:191151400-191183000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:191151400-191183600	Weak transcription	Thymus	Thymus
30	chr2:191152800-191178000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:191152800-191180000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:191153400-191182800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:191157600-191181400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:191160400-191180000	Weak transcription	Osteobl	bone
35	chr2:191160400-191181400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:191160600-191180000	Weak transcription	NHDF-Ad	bronchial
37	chr2:191161200-191181400	Weak transcription	Spleen	Spleen
38	chr2:191161400-191183600	Weak transcription	Ovary	ovary
39	chr2:191161600-191176400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:191161800-191180000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:191162200-191182200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:191165000-191179800	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:191165400-191183000	Weak transcription	Fetal Brain Female	brain
44	chr2:191166200-191176600	Weak transcription	Stomach Mucosa	stomach
45	chr2:191166200-191183200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:191166600-191182800	Weak transcription	Right Atrium	heart
47	chr2:191167000-191183000	Weak transcription	Brain Germinal Matrix	brain
48	chr2:191167200-191179800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:191167200-191182800	Weak transcription	Right Ventricle	heart
50	chr2:191167400-191178600	Weak transcription	Stomach Smooth Muscle	stomach

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