Variant report

Variant	rs2246627
Chromosome Location	chr12:106722708-106722709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106716961..106718607-chr12:106721779..106724193,2	K562	blood:
2	chr12:106639574..106641596-chr12:106721566..106723800,2	MCF-7	breast:
3	chr12:106720427..106722773-chr12:106723335..106725899,2	K562	blood:

Variant related genes	Relation type
ENSG00000258355	Chromatin interaction

rs_ID	r²[population]
rs10778463	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2252685	0.85[AMR][1000 genomes]
rs2253054	0.82[AMR][1000 genomes]
rs4964460	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7298576	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106700600-106736000	Weak transcription	Stomach Mucosa	stomach
2	chr12:106703000-106722800	Weak transcription	Fetal Brain Male	brain
3	chr12:106704200-106729400	Weak transcription	NHLF	lung
4	chr12:106704200-106729800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:106704600-106724400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:106704800-106726800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:106704800-106738800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:106705200-106743400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr12:106705400-106731600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:106705400-106743200	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:106705800-106725400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:106706000-106727800	Strong transcription	Placenta	Placenta
13	chr12:106707800-106726400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:106707800-106738800	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr12:106707800-106738800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:106708000-106723400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:106708000-106726800	Strong transcription	Fetal Intestine Large	intestine
18	chr12:106708000-106728200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:106708000-106740600	Strong transcription	Primary T cells from cord blood	blood
20	chr12:106708000-106741000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr12:106708400-106723400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:106708400-106728000	Strong transcription	Thymus	Thymus
23	chr12:106708600-106727000	Strong transcription	Primary hematopoietic stem cells	blood
24	chr12:106710000-106729800	Weak transcription	Hela-S3	cervix
25	chr12:106710400-106725400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:106712000-106724200	Strong transcription	Spleen	Spleen
27	chr12:106712000-106732600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:106713400-106741600	Weak transcription	Small Intestine	intestine
29	chr12:106716200-106725400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:106716400-106735400	Weak transcription	Right Atrium	heart
31	chr12:106716600-106729800	Weak transcription	HepG2	liver
32	chr12:106716800-106735400	Weak transcription	Esophagus	oesophagus
33	chr12:106716800-106736000	Weak transcription	Gastric	stomach
34	chr12:106717000-106729200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr12:106717000-106735600	Weak transcription	HSMMtube	muscle
36	chr12:106717800-106729800	Weak transcription	NHDF-Ad	bronchial
37	chr12:106718600-106723000	Weak transcription	Colonic Mucosa	Colon
38	chr12:106719400-106722800	Weak transcription	Brain Angular Gyrus	brain
39	chr12:106719400-106724800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:106719600-106723200	Weak transcription	Fetal Brain Female	brain
41	chr12:106719600-106735400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:106720200-106722800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:106720200-106725000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr12:106720200-106735400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:106720200-106736000	Weak transcription	Fetal Intestine Small	intestine
46	chr12:106720200-106736200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:106720400-106724000	Weak transcription	Brain Germinal Matrix	brain
48	chr12:106720400-106729800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:106720600-106722800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:106720600-106722800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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