Variant report

Variant	rs11120346
Chromosome Location	chr1:214681709-214681710
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11120345	1.00[EUR][1000 genomes]
rs11120347	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11120348	1.00[EUR][1000 genomes]
rs11810525	1.00[EUR][1000 genomes]
rs12119039	1.00[EUR][1000 genomes]
rs12121515	1.00[EUR][1000 genomes]
rs12124603	1.00[EUR][1000 genomes]
rs12125611	1.00[EUR][1000 genomes]
rs12126820	1.00[EUR][1000 genomes]
rs12127207	1.00[EUR][1000 genomes]
rs12127340	1.00[EUR][1000 genomes]
rs12127827	1.00[EUR][1000 genomes]
rs12129528	0.90[EUR][1000 genomes]
rs12135749	1.00[EUR][1000 genomes]
rs12136877	1.00[EUR][1000 genomes]
rs12142620	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56662203	1.00[EUR][1000 genomes]
rs57108161	1.00[EUR][1000 genomes]
rs59160493	1.00[EUR][1000 genomes]
rs60226530	1.00[EUR][1000 genomes]
rs60961360	1.00[EUR][1000 genomes]
rs6690349	1.00[EUR][1000 genomes]
rs73077971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73077984	1.00[EUR][1000 genomes]
rs73077989	1.00[EUR][1000 genomes]
rs73077995	1.00[EUR][1000 genomes]
rs73079704	1.00[EUR][1000 genomes]
rs73079729	1.00[EUR][1000 genomes]
rs73079746	1.00[EUR][1000 genomes]
rs73079748	1.00[EUR][1000 genomes]
rs73079754	0.82[EUR][1000 genomes]
rs73079755	0.82[EUR][1000 genomes]
rs73079759	0.82[EUR][1000 genomes]
rs73079763	0.82[EUR][1000 genomes]
rs73079764	0.82[EUR][1000 genomes]
rs73079768	0.82[EUR][1000 genomes]
rs7539678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214665400-214705400	Weak transcription	Right Ventricle	heart
2	chr1:214669800-214700400	Weak transcription	Aorta	Aorta
3	chr1:214671800-214686800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:214674200-214685200	Weak transcription	HUVEC	blood vessel
5	chr1:214674200-214687200	Weak transcription	HSMMtube	muscle
6	chr1:214674400-214685000	Weak transcription	Fetal Stomach	stomach
7	chr1:214674600-214686800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:214677200-214690200	Weak transcription	Small Intestine	intestine
9	chr1:214678000-214686800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:214678200-214683400	Weak transcription	Gastric	stomach
11	chr1:214678200-214685400	Weak transcription	Esophagus	oesophagus
12	chr1:214678200-214687800	Weak transcription	Lung	lung
13	chr1:214679000-214684000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:214679000-214687400	Weak transcription	Ovary	ovary
15	chr1:214679200-214687800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:214679400-214683400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:214679600-214687600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:214679800-214682600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:214680000-214682000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:214680200-214682400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:214680200-214685400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:214680800-214682600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:214680800-214683400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:214680800-214683600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:214680800-214684200	Weak transcription	Psoas Muscle	Psoas
26	chr1:214680800-214686800	Weak transcription	HSMM	muscle
27	chr1:214680800-214687600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:214680800-214687600	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:214680800-214687800	Weak transcription	Left Ventricle	heart
30	chr1:214681000-214682000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:214681000-214682800	Weak transcription	Osteobl	bone
32	chr1:214681000-214683400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:214681000-214685400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:214681000-214686600	Weak transcription	NH-A	brain
35	chr1:214681000-214687200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:214681000-214688000	Weak transcription	Hela-S3	cervix
37	chr1:214681200-214682000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:214681200-214682400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:214681200-214683400	Weak transcription	HMEC	breast
40	chr1:214681200-214688200	Weak transcription	Fetal Kidney	kidney
41	chr1:214681400-214681800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:214681400-214681800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:214681400-214683400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:214681400-214683400	Weak transcription	A549	lung
45	chr1:214681400-214683400	Weak transcription	NHEK	skin
46	chr1:214681400-214683600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:214681400-214684600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:214681400-214686800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:214681600-214681800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:214681600-214682000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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