Variant report

Variant	rs12948214
Chromosome Location	chr17:46314047-46314048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46312728..46315303-chr17:46319981..46321510,2	MCF-7	breast:
2	chr17:46312738..46316050-chr17:46317088..46320426,4	K562	blood:
3	chr17:46312503..46315307-chr17:46333530..46335778,2	K562	blood:

rs_ID	r²[population]
rs12941352	0.82[YRI][hapmap]
rs12946679	0.82[YRI][hapmap]
rs1452663	1.00[YRI][hapmap]
rs16951519	1.00[YRI][hapmap]
rs16952687	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs16953941	1.00[YRI][hapmap]
rs16954268	1.00[YRI][hapmap]
rs1979897	1.00[YRI][hapmap]
rs2023885	1.00[YRI][hapmap]
rs208005	0.91[YRI][hapmap]
rs208008	1.00[YRI][hapmap]
rs208009	1.00[YRI][hapmap]
rs2109983	1.00[YRI][hapmap]
rs2240120	1.00[YRI][hapmap]
rs2240121	1.00[YRI][hapmap]
rs2325804	1.00[YRI][hapmap]
rs35177469	0.88[AFR][1000 genomes]
rs35350665	0.88[AFR][1000 genomes]
rs35778085	0.84[AFR][1000 genomes]
rs57864674	0.88[AFR][1000 genomes]
rs58067327	1.00[AMR][1000 genomes]
rs59555055	1.00[AMR][1000 genomes]
rs59934148	1.00[AMR][1000 genomes]
rs61185573	1.00[AMR][1000 genomes]
rs61476017	1.00[AMR][1000 genomes]
rs7224461	1.00[YRI][hapmap]
rs73988613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8071199	1.00[YRI][hapmap]
rs8071879	1.00[YRI][hapmap]
rs978263	1.00[YRI][hapmap]

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46266800-46318200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr17:46294000-46318000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:46295800-46314200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr17:46297600-46314400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr17:46302600-46315800	Weak transcription	GM12878-XiMat	blood
6	chr17:46303400-46314200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr17:46305200-46317600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr17:46306400-46314200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr17:46306600-46335400	Weak transcription	Thymus	Thymus
10	chr17:46309200-46314600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr17:46310200-46315800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:46310600-46314400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr17:46311600-46314400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr17:46312400-46315400	Enhancers	NHEK	skin
15	chr17:46312800-46315200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr17:46312800-46315400	Enhancers	HMEC	breast
17	chr17:46312800-46318800	Enhancers	HUVEC	blood vessel
18	chr17:46313000-46315400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr17:46313000-46315400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr17:46313000-46318000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:46313200-46314600	Weak transcription	Primary T cells from cord blood	blood
22	chr17:46313400-46316400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr17:46313400-46316400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr17:46313800-46315000	Enhancers	NH-A	brain
25	chr17:46313800-46315400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr17:46314000-46314600	Enhancers	K562	blood
27	chr17:46314000-46315000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr17:46314000-46315000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr17:46314000-46315000	Flanking Active TSS	A549	lung
30	chr17:46314000-46315000	Enhancers	Hela-S3	cervix
31	chr17:46314000-46315200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr17:46314000-46315200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr17:46314000-46315200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr17:46314000-46315400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr17:46314000-46315400	Enhancers	HSMM	muscle
36	chr17:46314000-46315400	Enhancers	Osteobl	bone
37	chr17:46314000-46318000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr17:46314000-46318200	Enhancers	NHDF-Ad	bronchial

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