Variant report

Variant	rs62184386
Chromosome Location	chr2:191085618-191085619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2136569	0.86[ASN][1000 genomes]
rs2582766	0.90[ASN][1000 genomes]
rs2664251	0.87[ASN][1000 genomes]
rs2664252	0.86[ASN][1000 genomes]
rs2664253	0.86[ASN][1000 genomes]
rs291453	0.90[ASN][1000 genomes]
rs291464	0.82[ASN][1000 genomes]
rs291466	0.82[ASN][1000 genomes]
rs291472	0.82[ASN][1000 genomes]
rs7590991	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs906916	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv875619	chr2:191062951-191112241	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs62184386	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs62184386	HIBCH	cis	Muscle Skeletal	GTEx
rs62184386	HIBCH	cis	multi-tissue	Pritchard
rs62184386	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs62184386	HIBCH	cis	Heart Left Ventricle	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191046000-191088400	Weak transcription	HSMMtube	muscle
2	chr2:191046600-191086400	Weak transcription	Colonic Mucosa	Colon
3	chr2:191052000-191108800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:191056800-191124600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:191056800-191131800	Weak transcription	NHEK	skin
6	chr2:191057800-191087800	Weak transcription	Fetal Brain Female	brain
7	chr2:191060000-191107000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:191060200-191090600	Weak transcription	A549	lung
9	chr2:191060600-191087800	Weak transcription	Brain Germinal Matrix	brain
10	chr2:191060800-191180000	Weak transcription	Small Intestine	intestine
11	chr2:191061000-191089200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:191062400-191107800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:191062800-191088000	Weak transcription	Fetal Brain Male	brain
14	chr2:191062800-191088600	Weak transcription	Spleen	Spleen
15	chr2:191065000-191086600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:191065000-191087800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:191065000-191088600	Weak transcription	Esophagus	oesophagus
18	chr2:191065000-191088800	Weak transcription	Gastric	stomach
19	chr2:191065200-191086400	Weak transcription	Brain Angular Gyrus	brain
20	chr2:191065600-191088200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:191067400-191086400	Weak transcription	Stomach Mucosa	stomach
22	chr2:191067600-191109200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:191069800-191087600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:191071000-191085800	Weak transcription	NHDF-Ad	bronchial
25	chr2:191071200-191088000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:191073200-191109000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:191075600-191088000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:191076200-191107200	Weak transcription	GM12878-XiMat	blood
29	chr2:191077000-191088800	Weak transcription	Brain Substantia Nigra	brain
30	chr2:191077000-191106800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:191077200-191100200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:191078400-191088200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:191079200-191087400	Weak transcription	Primary B cells from cord blood	blood
34	chr2:191079200-191088600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:191079200-191099000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:191079400-191109400	Weak transcription	NH-A	brain
37	chr2:191079600-191091400	Weak transcription	Psoas Muscle	Psoas
38	chr2:191079800-191088400	Weak transcription	Thymus	Thymus
39	chr2:191079800-191106600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:191080800-191087800	Weak transcription	Fetal Lung	lung
41	chr2:191080800-191089800	Weak transcription	HSMM	muscle
42	chr2:191081000-191086200	Weak transcription	Ovary	ovary
43	chr2:191081000-191086600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:191081000-191107200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:191081200-191086600	Weak transcription	Fetal Kidney	kidney
46	chr2:191081600-191088200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr2:191081600-191107400	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:191081800-191087600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:191081800-191087800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:191081800-191088400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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