Variant report

Variant	rs9596530
Chromosome Location	chr13:52094930-52094931
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52093545..52096468-chr13:52097107..52099629,3	MCF-7	breast:
2	chr13:52025069..52031067-chr13:52092672..52100320,19	MCF-7	breast:
3	chr13:52021229..52031054-chr13:52088479..52100505,23	MCF-7	breast:
4	chr13:52093719..52095925-chr13:52134002..52136713,2	MCF-7	breast:
5	chr13:52026880..52029766-chr13:52094473..52098011,4	K562	blood:
6	chr13:52093115..52097623-chr13:52157437..52160245,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102786	Chromatin interaction
ENSG00000224892	Chromatin interaction
ENSG00000139668	Chromatin interaction
ENSG00000236778	Chromatin interaction

rs_ID	r²[population]
rs12430506	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12430760	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs12431173	0.81[EUR][1000 genomes]
rs17069413	0.85[CEU][hapmap]
rs17075849	0.85[CEU][hapmap]
rs17531181	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs8001480	0.85[CEU][hapmap]

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52090000-52097400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:52092000-52095400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr13:52092400-52095000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:52092400-52095000	Enhancers	HMEC	breast
5	chr13:52092400-52095200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:52092600-52095200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:52093000-52095000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:52093000-52095600	Enhancers	Primary T cells from cord blood	blood
9	chr13:52093200-52097000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr13:52093200-52097200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr13:52093400-52096000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr13:52093400-52096200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr13:52093400-52097000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr13:52093400-52097000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr13:52093400-52097000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr13:52093400-52097200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr13:52093800-52095000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:52093800-52097000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr13:52093800-52097800	Enhancers	HepG2	liver
20	chr13:52094200-52097200	Weak transcription	NHLF	lung
21	chr13:52094600-52095000	Enhancers	Fetal Thymus	thymus
22	chr13:52094600-52097200	Weak transcription	NHDF-Ad	bronchial
23	chr13:52094600-52099000	Weak transcription	HSMM	muscle
24	chr13:52094800-52095200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:52094800-52095200	Enhancers	Fetal Intestine Small	intestine
26	chr13:52094800-52095400	Enhancers	Liver	Liver
27	chr13:52094800-52097000	Weak transcription	NHEK	skin
28	chr13:52094800-52097000	Weak transcription	Osteobl	bone
29	chr13:52094800-52097200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:52094800-52097200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:52094800-52097200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:52094800-52097200	Weak transcription	Fetal Muscle Leg	muscle
33	chr13:52094800-52097400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr13:52094800-52098200	Enhancers	A549	lung
35	chr13:52094800-52098800	Weak transcription	NH-A	brain
36	chr13:52094800-52100800	Enhancers	Hela-S3	cervix

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