Variant report

Variant	rs11120345
Chromosome Location	chr1:214674500-214674501
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	chr1:214673174..214674823-chr1:214674925..214678786,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11120346	1.00[EUR][1000 genomes]
rs11120347	1.00[EUR][1000 genomes]
rs11120348	1.00[EUR][1000 genomes]
rs11810525	1.00[CEU][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];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];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs12135749	1.00[EUR][1000 genomes]
rs12136877	1.00[EUR][1000 genomes]
rs12142620	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1467082	1.00[MEX][hapmap]
rs17023098	1.00[MEX][hapmap]
rs17023126	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17023147	1.00[MEX][hapmap]
rs2666832	1.00[MEX][hapmap]
rs41320948	1.00[MEX][hapmap]
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[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73077971	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[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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214654400-214677400	Weak transcription	Gastric	stomach
2	chr1:214665400-214676600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:214665400-214705400	Weak transcription	Right Ventricle	heart
4	chr1:214666600-214675200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:214666600-214677600	Weak transcription	Pancreas	Pancrea
6	chr1:214668400-214677600	Weak transcription	Left Ventricle	heart
7	chr1:214668400-214678600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:214668400-214680400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:214668600-214677400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:214669400-214674600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:214669800-214700400	Weak transcription	Aorta	Aorta
12	chr1:214670000-214676400	Weak transcription	A549	lung
13	chr1:214670000-214677000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:214670000-214677600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:214670000-214680000	Weak transcription	NH-A	brain
16	chr1:214671800-214686800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:214672000-214677400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:214672600-214677600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:214672800-214674600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:214672800-214675000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:214673200-214674600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:214673200-214674600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:214673200-214675000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:214673200-214675000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:214673400-214674600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:214673400-214674600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:214673400-214674600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:214673600-214674600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:214673600-214674600	Enhancers	Rectal Smooth Muscle	rectum
30	chr1:214673600-214674600	Genic enhancers	Osteobl	bone
31	chr1:214673600-214676000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:214673800-214674600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr1:214673800-214674600	Enhancers	Colon Smooth Muscle	Colon
34	chr1:214673800-214674600	Enhancers	Stomach Smooth Muscle	stomach
35	chr1:214673800-214674800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:214673800-214675000	Enhancers	NHEK	skin
37	chr1:214673800-214677200	Weak transcription	Psoas Muscle	Psoas
38	chr1:214674000-214675000	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr1:214674000-214678600	Weak transcription	Placenta	Placenta
40	chr1:214674200-214674600	Enhancers	Fetal Heart	heart
41	chr1:214674200-214674600	Flanking Active TSS	NHLF	lung
42	chr1:214674200-214675000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:214674200-214675000	Flanking Active TSS	NHDF-Ad	bronchial
44	chr1:214674200-214677400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:214674200-214685200	Weak transcription	HUVEC	blood vessel
46	chr1:214674200-214687200	Weak transcription	HSMMtube	muscle
47	chr1:214674400-214674600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:214674400-214674600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:214674400-214674600	Active TSS	Ovary	ovary
50	chr1:214674400-214676400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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