Variant report

Variant	rs2067398
Chromosome Location	chr2:191224208-191224209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10931450	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11689196	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2016037	0.92[EUR][1000 genomes]
rs2028431	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2067402	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2067411	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067418	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067419	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067454	0.84[EUR][1000 genomes]
rs2136568	0.80[EUR][1000 genomes]
rs2136570	0.80[EUR][1000 genomes]
rs2136571	0.80[EUR][1000 genomes]
rs2354871	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2582753	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs291434	0.80[EUR][1000 genomes]
rs291435	0.80[EUR][1000 genomes]
rs291436	0.80[EUR][1000 genomes]
rs291437	0.80[EUR][1000 genomes]
rs291438	0.80[EUR][1000 genomes]
rs291439	0.80[EUR][1000 genomes]
rs291440	0.80[EUR][1000 genomes]
rs291441	0.80[EUR][1000 genomes]
rs291442	0.80[EUR][1000 genomes]
rs291463	0.81[EUR][1000 genomes]
rs3791805	0.80[EUR][1000 genomes]
rs3791806	0.82[EUR][1000 genomes]
rs3791813	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3791815	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4853693	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57199157	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58400804	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60469543	0.80[EUR][1000 genomes]
rs60986316	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6752703	0.80[EUR][1000 genomes]
rs67791002	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72627906	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7567973	0.87[EUR][1000 genomes]
rs760307	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2067398	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs2067398	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs2067398	HIBCH	cis	Thyroid	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191209400-191224600	Weak transcription	Colonic Mucosa	Colon
2	chr2:191209800-191224600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:191209800-191224600	Weak transcription	NH-A	brain
4	chr2:191210000-191224400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:191211400-191238000	Weak transcription	Hela-S3	cervix
6	chr2:191212200-191224600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:191214000-191230400	Weak transcription	Aorta	Aorta
8	chr2:191216800-191224600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:191216800-191224600	Enhancers	HMEC	breast
10	chr2:191218200-191224400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:191218200-191224600	Weak transcription	Right Ventricle	heart
12	chr2:191219400-191234000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:191219600-191224400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:191219600-191243800	Weak transcription	Gastric	stomach
15	chr2:191220600-191224600	Enhancers	Liver	Liver
16	chr2:191220800-191224600	Enhancers	Rectal Smooth Muscle	rectum
17	chr2:191221200-191224400	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr2:191221200-191224600	Weak transcription	Thymus	Thymus
19	chr2:191221400-191224400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:191221400-191224600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:191221400-191224600	Weak transcription	Left Ventricle	heart
22	chr2:191221400-191224800	Weak transcription	Lung	lung
23	chr2:191221400-191224800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr2:191221400-191225000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:191221600-191224600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:191222000-191224600	Weak transcription	Fetal Kidney	kidney
27	chr2:191222000-191224800	Weak transcription	Fetal Intestine Large	intestine
28	chr2:191222200-191224400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:191222200-191224600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:191222200-191225200	Enhancers	HepG2	liver
31	chr2:191222400-191224400	Enhancers	Fetal Lung	lung
32	chr2:191222400-191224600	Enhancers	Fetal Stomach	stomach
33	chr2:191222600-191224600	Weak transcription	Small Intestine	intestine
34	chr2:191222800-191224400	Weak transcription	Primary B cells from cord blood	blood
35	chr2:191222800-191224400	Weak transcription	Fetal Intestine Small	intestine
36	chr2:191223000-191224400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:191223000-191224400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:191223000-191224400	Enhancers	Brain Cingulate Gyrus	brain
39	chr2:191223000-191224600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:191223200-191224400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:191223200-191224400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr2:191223200-191224400	Enhancers	NHDF-Ad	bronchial
43	chr2:191223200-191224600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:191223200-191225000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr2:191223400-191224400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:191223400-191224400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr2:191223400-191224600	Enhancers	Adipose Nuclei	Adipose
48	chr2:191223400-191224600	Enhancers	Colon Smooth Muscle	Colon
49	chr2:191223400-191224600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:191223400-191224600	Enhancers	Pancreas	Pancrea

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