Variant report

Variant	rs2067454
Chromosome Location	chr2:191236379-191236380
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	chr2:191229901..191232788-chr2:191235811..191237515,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10931450	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2016037	0.83[EUR][1000 genomes]
rs2067398	0.84[EUR][1000 genomes]
rs2067402	0.83[EUR][1000 genomes]
rs2067411	0.85[EUR][1000 genomes]
rs2067418	0.87[EUR][1000 genomes]
rs2067419	0.87[EUR][1000 genomes]
rs2582753	0.83[EUR][1000 genomes]
rs3791813	0.82[EUR][1000 genomes]
rs3791815	0.83[EUR][1000 genomes]
rs60986316	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72627906	0.83[EUR][1000 genomes]
rs760307	0.82[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2067454	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs2067454	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs2067454	HIBCH	cis	Thyroid	GTEx

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191211400-191238000	Weak transcription	Hela-S3	cervix
2	chr2:191219600-191243800	Weak transcription	Gastric	stomach
3	chr2:191223800-191236800	Weak transcription	Psoas Muscle	Psoas
4	chr2:191225000-191236400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr2:191225000-191237400	Weak transcription	Fetal Brain Female	brain
6	chr2:191225000-191237600	Weak transcription	Small Intestine	intestine
7	chr2:191225000-191242800	Weak transcription	Placenta	Placenta
8	chr2:191225200-191236400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:191225200-191236600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:191225200-191236600	Weak transcription	NH-A	brain
11	chr2:191225200-191237000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:191225200-191237000	Weak transcription	Stomach Mucosa	stomach
13	chr2:191225200-191237000	Weak transcription	HMEC	breast
14	chr2:191225200-191237200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:191225200-191237200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:191225200-191238200	Weak transcription	NHEK	skin
17	chr2:191225200-191242800	Weak transcription	Fetal Kidney	kidney
18	chr2:191225200-191244000	Weak transcription	Fetal Heart	heart
19	chr2:191225200-191244800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:191225400-191237200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:191225400-191239200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:191226000-191237000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:191226600-191237000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr2:191226600-191237000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:191226600-191237800	Weak transcription	GM12878-XiMat	blood
26	chr2:191226800-191236400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:191227200-191236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr2:191227400-191244400	Weak transcription	A549	lung
29	chr2:191227800-191236400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr2:191228600-191236600	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr2:191229400-191236400	Strong transcription	Fetal Muscle Leg	muscle
32	chr2:191229600-191236400	Strong transcription	Adipose Nuclei	Adipose
33	chr2:191230000-191236400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:191231000-191236400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:191231800-191236400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:191231800-191236400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:191231800-191236400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:191231800-191247800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr2:191232000-191236400	Strong transcription	Osteobl	bone
40	chr2:191233000-191236800	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:191233800-191236400	Strong transcription	Primary B cells from cord blood	blood
42	chr2:191234200-191236600	Strong transcription	Fetal Stomach	stomach
43	chr2:191234600-191242800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr2:191235000-191242800	Weak transcription	NHDF-Ad	bronchial
45	chr2:191235600-191236400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:191235800-191236800	Weak transcription	Brain Anterior Caudate	brain
47	chr2:191235800-191237600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:191235800-191238400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr2:191235800-191239000	Weak transcription	HUVEC	blood vessel
50	chr2:191235800-191242600	Weak transcription	K562	blood

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