Variant report

Variant	rs17023103
Chromosome Location	chr1:214677422-214677423
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214677154..214678655-chr1:214700789..214703552,2	MCF-7	breast:
2	chr1:214673174..214674823-chr1:214674925..214678786,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10494981	1.00[CEU][hapmap]
rs12136882	0.93[ASN][1000 genomes]
rs12564111	0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs12564450	0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs12565444	0.89[ASN][1000 genomes]
rs12568895	0.90[ASN][1000 genomes]
rs17023144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17734395	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17734456	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17734758	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs17734993	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs17791024	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4077549	1.00[CEU][hapmap];0.93[AMR][1000 genomes]
rs57009338	0.93[ASN][1000 genomes]
rs59217266	0.89[ASN][1000 genomes]
rs6540847	0.88[CEU][hapmap]
rs6540848	0.88[ASN][1000 genomes]
rs6662947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6678591	0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs6689199	0.88[ASN][1000 genomes]
rs6698434	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6701105	0.88[CEU][hapmap]
rs6701211	0.94[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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214665400-214705400	Weak transcription	Right Ventricle	heart
2	chr1:214666600-214677600	Weak transcription	Pancreas	Pancrea
3	chr1:214668400-214677600	Weak transcription	Left Ventricle	heart
4	chr1:214668400-214678600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:214668400-214680400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:214669800-214700400	Weak transcription	Aorta	Aorta
7	chr1:214670000-214677600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:214670000-214680000	Weak transcription	NH-A	brain
9	chr1:214671800-214686800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:214672600-214677600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:214674000-214678600	Weak transcription	Placenta	Placenta
12	chr1:214674200-214685200	Weak transcription	HUVEC	blood vessel
13	chr1:214674200-214687200	Weak transcription	HSMMtube	muscle
14	chr1:214674400-214678200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:214674400-214678400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:214674400-214679400	Weak transcription	HMEC	breast
17	chr1:214674400-214680000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:214674400-214685000	Weak transcription	Fetal Stomach	stomach
19	chr1:214674600-214677600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:214674600-214677800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:214674600-214677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:214674600-214678200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:214674600-214678400	Weak transcription	Ovary	ovary
24	chr1:214674600-214678600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:214674600-214678800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:214674600-214680000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:214674600-214680200	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:214674600-214686800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:214674800-214677600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:214675000-214677600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:214675000-214677600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:214675000-214678000	Weak transcription	NHLF	lung
33	chr1:214675000-214680000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:214675200-214680000	Weak transcription	NHDF-Ad	bronchial
35	chr1:214676000-214679800	Genic enhancers	NHEK	skin
36	chr1:214676400-214677800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:214676400-214677800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:214676400-214680000	Enhancers	A549	lung
39	chr1:214676600-214681000	Enhancers	Stomach Mucosa	stomach
40	chr1:214676800-214677600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:214676800-214678000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:214676800-214678000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:214676800-214681400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:214677000-214678000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr1:214677000-214680000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:214677000-214680000	Enhancers	HepG2	liver
47	chr1:214677000-214681600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:214677200-214679000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:214677200-214679000	Enhancers	Psoas Muscle	Psoas
50	chr1:214677200-214679600	Strong transcription	HSMM	muscle

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