Variant report

Variant	rs17127964
Chromosome Location	chr14:55262895-55262896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55193824..55195422-chr14:55261940..55264459,2	MCF-7	breast:
2	chr14:55258433..55260433-chr14:55261576..55263537,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10135910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147626	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12323472	0.95[AFR][1000 genomes]
rs8014092	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9806024	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55241000-55263200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:55241200-55272200	Weak transcription	A549	lung
3	chr14:55257200-55272400	Weak transcription	Brain Hippocampus Middle	brain
4	chr14:55257400-55263800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:55257800-55263200	Weak transcription	HSMMtube	muscle
6	chr14:55257800-55272400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:55258000-55263200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:55258000-55265000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:55258000-55268000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:55258000-55272200	Weak transcription	Right Ventricle	heart
11	chr14:55258200-55263400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:55259400-55263200	Weak transcription	NHDF-Ad	bronchial
13	chr14:55260800-55263400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:55261800-55263200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:55261800-55264600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:55262000-55263200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:55262000-55272400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:55262000-55274800	Weak transcription	Spleen	Spleen
19	chr14:55262200-55263200	Weak transcription	NHLF	lung
20	chr14:55262200-55263400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:55262200-55264400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:55262200-55267200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:55262200-55272400	Weak transcription	Aorta	Aorta
24	chr14:55262400-55263000	Weak transcription	HSMM	muscle
25	chr14:55262400-55263200	Enhancers	HepG2	liver
26	chr14:55262400-55264200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:55262400-55264200	Enhancers	Osteobl	bone
28	chr14:55262600-55263200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:55262800-55263000	Enhancers	HMEC	breast
30	chr14:55262800-55264400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:55262800-55264400	Enhancers	HUVEC	blood vessel

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