Variant report

Variant	rs17791024
Chromosome Location	chr1:214674996-214674997
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: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10494981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11588026	0.83[ASN][1000 genomes]
rs17023103	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17023144	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs17734395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17734456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17734758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17734879	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17734993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35329321	1.00[CHB][hapmap]
rs4074425	1.00[ASN][1000 genomes]
rs4077549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41307662	1.00[ASN][1000 genomes]
rs4448491	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4529685	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4535975	1.00[ASN][1000 genomes]
rs6540846	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6540847	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6662947	1.00[CEU][hapmap]
rs6675792	1.00[CHB][hapmap]
rs6698434	0.88[CEU][hapmap]
rs6701105	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6701315	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67542303	1.00[ASN][1000 genomes]
rs72759634	1.00[ASN][1000 genomes]
rs7550419	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][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:56 , 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	chr1:214669800-214700400	Weak transcription	Aorta	Aorta
11	chr1:214670000-214676400	Weak transcription	A549	lung
12	chr1:214670000-214677000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:214670000-214677600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:214670000-214680000	Weak transcription	NH-A	brain
15	chr1:214671800-214686800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:214672000-214677400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:214672600-214677600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:214672800-214675000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:214673200-214675000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:214673200-214675000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:214673600-214676000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:214673800-214675000	Enhancers	NHEK	skin
23	chr1:214673800-214677200	Weak transcription	Psoas Muscle	Psoas
24	chr1:214674000-214675000	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr1:214674000-214678600	Weak transcription	Placenta	Placenta
26	chr1:214674200-214675000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:214674200-214675000	Flanking Active TSS	NHDF-Ad	bronchial
28	chr1:214674200-214677400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:214674200-214685200	Weak transcription	HUVEC	blood vessel
30	chr1:214674200-214687200	Weak transcription	HSMMtube	muscle
31	chr1:214674400-214676400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:214674400-214676800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:214674400-214677200	Weak transcription	HSMM	muscle
34	chr1:214674400-214678200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:214674400-214678400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr1:214674400-214679400	Weak transcription	HMEC	breast
37	chr1:214674400-214680000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:214674400-214685000	Weak transcription	Fetal Stomach	stomach
39	chr1:214674600-214675000	Enhancers	NHLF	lung
40	chr1:214674600-214675200	Strong transcription	Osteobl	bone
41	chr1:214674600-214676800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:214674600-214676800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:214674600-214677000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:214674600-214677400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:214674600-214677600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:214674600-214677800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:214674600-214677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:214674600-214678200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr1:214674600-214678400	Weak transcription	Ovary	ovary
50	chr1:214674600-214678600	Weak transcription	Stomach Smooth Muscle	stomach

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