Variant report

Variant	rs12142620
Chromosome Location	chr1:214673132-214673133
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	chr1:214665493..214668241-chr1:214672288..214674423,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11120345	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11120346	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11120347	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11120348	1.00[EUR][1000 genomes]
rs11810525	1.00[CEU][hapmap];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]
rs12127274	1.00[CEU][hapmap]
rs12127340	1.00[EUR][1000 genomes]
rs12127827	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12129528	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12135749	1.00[EUR][1000 genomes]
rs12136877	1.00[EUR][1000 genomes]
rs17023126	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[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[CEU][hapmap];1.00[EUR][1000 genomes]
rs73077971	0.92[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	0.92[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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214654400-214677400	Weak transcription	Gastric	stomach
2	chr1:214663200-214673600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:214665400-214676600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:214665400-214705400	Weak transcription	Right Ventricle	heart
5	chr1:214666600-214673800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:214666600-214675200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:214666600-214677600	Weak transcription	Pancreas	Pancrea
8	chr1:214668000-214673200	Weak transcription	Placenta	Placenta
9	chr1:214668400-214673200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:214668400-214673200	Weak transcription	NHLF	lung
11	chr1:214668400-214673600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:214668400-214673600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:214668400-214677600	Weak transcription	Left Ventricle	heart
14	chr1:214668400-214678600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:214668400-214680400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:214668600-214673600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:214668600-214677400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:214668800-214674200	Weak transcription	Fetal Heart	heart
19	chr1:214669400-214674600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:214669800-214673600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:214669800-214673800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:214669800-214673800	Weak transcription	HSMMtube	muscle
23	chr1:214669800-214700400	Weak transcription	Aorta	Aorta
24	chr1:214670000-214673200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:214670000-214674200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:214670000-214676400	Weak transcription	A549	lung
27	chr1:214670000-214677000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:214670000-214677600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:214670000-214680000	Weak transcription	NH-A	brain
30	chr1:214670600-214673400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:214670600-214673800	Weak transcription	NHEK	skin
32	chr1:214670800-214673800	Weak transcription	HMEC	breast
33	chr1:214671000-214674000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:214671200-214673800	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:214671600-214673800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:214671800-214673200	Weak transcription	NHDF-Ad	bronchial
37	chr1:214671800-214673400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:214671800-214673400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:214671800-214673600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:214671800-214673600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:214671800-214674000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:214671800-214686800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:214672000-214673200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:214672000-214673400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:214672000-214673800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:214672000-214677400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:214672200-214673600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:214672200-214673800	Enhancers	Primary T cells from cord blood	blood
49	chr1:214672200-214673800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:214672200-214673800	Enhancers	Psoas Muscle	Psoas

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