Variant report

Variant	rs17734993
Chromosome Location	chr1:214688529-214688530
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	chr1:214683964..214686596-chr1:214687813..214690608,3	MCF-7	breast:

Extended variants
information (count: 27 )
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];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588026	0.83[ASN][1000 genomes]
rs17023103	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs17023144	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17734395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.83[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];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17734758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17734879	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17791024	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];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41307662	1.00[ASN][1000 genomes]
rs4448491	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4529685	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4535975	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6540846	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6540847	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];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];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701315	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.80[EUR][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:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3359913	chr1:214688479-214688831	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:81 , 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	chr1:214677200-214690200	Weak transcription	Small Intestine	intestine
4	chr1:214681600-214690200	Weak transcription	Pancreas	Pancrea
5	chr1:214686600-214688600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:214686600-214690400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:214686800-214688600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr1:214686800-214688800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:214686800-214689000	Enhancers	NHLF	lung
10	chr1:214686800-214690000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:214686800-214693000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:214686800-214694400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:214687000-214688800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:214687000-214690400	Enhancers	NHDF-Ad	bronchial
15	chr1:214687200-214688600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr1:214687200-214689000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:214687400-214688600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
18	chr1:214687400-214688600	Enhancers	HSMM	muscle
19	chr1:214687400-214690400	Enhancers	HUVEC	blood vessel
20	chr1:214687600-214688600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:214687600-214688600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr1:214687600-214688600	Enhancers	Colon Smooth Muscle	Colon
23	chr1:214687600-214688800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:214687600-214689800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:214687600-214689800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:214687600-214690600	Enhancers	Adipose Nuclei	Adipose
27	chr1:214687600-214690800	Enhancers	Fetal Intestine Large	intestine
28	chr1:214687800-214688600	Enhancers	Rectal Smooth Muscle	rectum
29	chr1:214687800-214688600	Enhancers	Stomach Mucosa	stomach
30	chr1:214687800-214689600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:214687800-214689800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:214687800-214689800	Enhancers	NHEK	skin
33	chr1:214687800-214690000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr1:214687800-214698400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:214688000-214688600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:214688000-214688600	Enhancers	Fetal Lung	lung
37	chr1:214688000-214688600	Flanking Active TSS	Osteobl	bone
38	chr1:214688000-214689200	Enhancers	Primary T cells from cord blood	blood
39	chr1:214688000-214689400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:214688000-214689800	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr1:214688000-214690600	Enhancers	HMEC	breast
42	chr1:214688200-214688600	Enhancers	Primary hematopoietic stem cells	blood
43	chr1:214688200-214688800	Enhancers	Fetal Kidney	kidney
44	chr1:214688200-214689000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:214688200-214689000	Enhancers	A549	lung
46	chr1:214688200-214689400	Weak transcription	Psoas Muscle	Psoas
47	chr1:214688200-214689400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:214688200-214689600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:214688200-214690200	Weak transcription	Fetal Heart	heart
50	chr1:214688200-214690600	Enhancers	HUES64 Cell Line	embryonic stem cell

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