Variant report

Variant	rs11809713
Chromosome Location	chr1:214671389-214671390
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	chr1:214660024..214663647-chr1:214669721..214672544,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17023098	1.00[AMR][1000 genomes]
rs17023147	1.00[AMR][1000 genomes]
rs17023152	1.00[AMR][1000 genomes]
rs17023159	1.00[AMR][1000 genomes]
rs2666851	1.00[AMR][1000 genomes]
rs41320948	1.00[AMR][1000 genomes]
rs56688885	1.00[AMR][1000 genomes]
rs73077973	1.00[AMR][1000 genomes]
rs73077997	1.00[AMR][1000 genomes]
rs73079742	1.00[AMR][1000 genomes]
rs73079792	1.00[AMR][1000 genomes]
rs73079794	1.00[AMR][1000 genomes]
rs73079797	1.00[AMR][1000 genomes]
rs73081514	1.00[AMR][1000 genomes]
rs966128	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468094	chr1:214654965-214687725	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv549180	chr1:214654965-214687725	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214646000-214672200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:214654400-214677400	Weak transcription	Gastric	stomach
3	chr1:214663200-214673600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:214664800-214671800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr1:214664800-214672000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:214665400-214676600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:214665400-214705400	Weak transcription	Right Ventricle	heart
8	chr1:214666600-214671600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:214666600-214672400	Weak transcription	Ovary	ovary
10	chr1:214666600-214672400	Enhancers	Osteobl	bone
11	chr1:214666600-214673800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:214666600-214675200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:214666600-214677600	Weak transcription	Pancreas	Pancrea
14	chr1:214668000-214673200	Weak transcription	Placenta	Placenta
15	chr1:214668400-214673200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:214668400-214673200	Weak transcription	NHLF	lung
17	chr1:214668400-214673600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:214668400-214673600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:214668400-214677600	Weak transcription	Left Ventricle	heart
20	chr1:214668400-214678600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:214668400-214680400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:214668600-214673600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:214668600-214677400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:214668800-214674200	Weak transcription	Fetal Heart	heart
25	chr1:214669200-214671800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:214669400-214671800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr1:214669400-214671800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr1:214669400-214672400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:214669400-214674600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:214669800-214672200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:214669800-214673600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:214669800-214673800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:214669800-214673800	Weak transcription	HSMMtube	muscle
34	chr1:214669800-214700400	Weak transcription	Aorta	Aorta
35	chr1:214670000-214671400	Weak transcription	HUVEC	blood vessel
36	chr1:214670000-214671400	Weak transcription	NHDF-Ad	bronchial
37	chr1:214670000-214671600	Weak transcription	HSMM	muscle
38	chr1:214670000-214673200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:214670000-214674200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:214670000-214676400	Weak transcription	A549	lung
41	chr1:214670000-214677000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:214670000-214677600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:214670000-214680000	Weak transcription	NH-A	brain
44	chr1:214670200-214671400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:214670400-214671600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr1:214670600-214671600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:214670600-214672000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:214670600-214672200	Weak transcription	Psoas Muscle	Psoas
49	chr1:214670600-214673400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:214670600-214673800	Weak transcription	NHEK	skin

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