Variant report

Variant	rs4864763
Chromosome Location	chr4:54341346-54341347
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	chr4:54340192..54342016-chr4:54343724..54345508,2	K562	blood:
2	chr4:54340153..54341692-chr4:54343827..54345508,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10517296	1.00[YRI][hapmap]
rs13120051	1.00[YRI][hapmap]
rs1514387	1.00[MEX][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1514388	1.00[MEX][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1514389	1.00[MEX][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17082887	0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17082936	1.00[EUR][1000 genomes]
rs35225781	1.00[YRI][hapmap]
rs41397545	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7681753	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs967018	1.00[EUR][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	nsv516916	chr4:54331706-54341346	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54320000-54342000	Weak transcription	Pancreas	Pancrea
2	chr4:54320000-54353200	Weak transcription	Gastric	stomach
3	chr4:54321400-54341800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:54327600-54347800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:54327800-54341800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:54327800-54362200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:54328200-54362000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:54328400-54362000	Weak transcription	Brain Angular Gyrus	brain
9	chr4:54329600-54341600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:54329600-54341800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:54329600-54342000	Weak transcription	NH-A	brain
12	chr4:54329600-54351000	Weak transcription	Adipose Nuclei	Adipose
13	chr4:54329600-54373600	Weak transcription	Brain Germinal Matrix	brain
14	chr4:54329800-54341600	Weak transcription	NHDF-Ad	bronchial
15	chr4:54329800-54374000	Weak transcription	Left Ventricle	heart
16	chr4:54330200-54341800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:54332000-54341800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:54332000-54342400	Weak transcription	HSMM	muscle
19	chr4:54333000-54342800	Weak transcription	Esophagus	oesophagus
20	chr4:54333000-54363600	Weak transcription	Aorta	Aorta
21	chr4:54333000-54374800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:54333600-54342600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:54333600-54342800	Weak transcription	Fetal Stomach	stomach
24	chr4:54336400-54342800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:54338000-54341400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:54338400-54347400	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:54339200-54343400	Strong transcription	Liver	Liver
28	chr4:54339400-54342400	Strong transcription	Placenta	Placenta
29	chr4:54339400-54343200	Strong transcription	Fetal Intestine Large	intestine
30	chr4:54339800-54342800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:54340200-54343200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr4:54340400-54341600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr4:54340400-54343400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:54340600-54341800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:54340600-54342000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:54340600-54343200	Strong transcription	Fetal Intestine Small	intestine
37	chr4:54340800-54342000	Weak transcription	Fetal Brain Female	brain
38	chr4:54341000-54341400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:54341200-54342800	Enhancers	HUES48 Cell Line	embryonic stem cell

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