Variant report

Variant	rs17023923
Chromosome Location	chr2:39761367-39761368
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39751067..39752674-chr2:39760072..39761587,2	MCF-7	breast:
2	chr2:39757987..39759726-chr2:39760387..39763403,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10191970	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11896239	0.83[ASN][1000 genomes]
rs13027520	0.86[ASN][1000 genomes]
rs13391377	0.86[ASN][1000 genomes]
rs17023874	0.90[ASN][1000 genomes]
rs2888602	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35377016	0.86[ASN][1000 genomes]
rs4670282	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4670284	0.86[AMR][1000 genomes]
rs4670285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4670943	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6740898	0.80[ASN][1000 genomes]
rs72803112	0.83[ASN][1000 genomes]
rs734663	0.88[JPT][hapmap]
rs7588713	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7594624	0.87[ASN][1000 genomes]
rs7594967	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7608399	0.81[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	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39753400-39768400	Weak transcription	Right Ventricle	heart
2	chr2:39753400-39768600	Weak transcription	Right Atrium	heart
3	chr2:39753600-39767000	Weak transcription	Psoas Muscle	Psoas
4	chr2:39757200-39761800	Weak transcription	Aorta	Aorta
5	chr2:39757800-39761400	Weak transcription	NH-A	brain
6	chr2:39758200-39761800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:39758200-39767400	Weak transcription	Fetal Kidney	kidney
8	chr2:39758400-39761400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:39758600-39761400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:39758600-39761400	Weak transcription	NHLF	lung
11	chr2:39758600-39761400	Weak transcription	Osteobl	bone
12	chr2:39758600-39766600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:39758600-39767000	Weak transcription	Lung	lung
14	chr2:39759400-39764200	Enhancers	HepG2	liver
15	chr2:39760200-39761600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:39760200-39761800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:39760400-39761800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:39760400-39762000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:39760400-39762200	Enhancers	HSMM	muscle
20	chr2:39760400-39763000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:39760400-39763000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:39760600-39766200	Weak transcription	Left Ventricle	heart
23	chr2:39760800-39761800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:39760800-39762600	Enhancers	HMEC	breast
25	chr2:39760800-39762800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:39760800-39762800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:39760800-39763000	Enhancers	NHEK	skin
28	chr2:39761000-39761400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:39761000-39761400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:39761000-39761800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr2:39761000-39761800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:39761000-39761800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr2:39761000-39762200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:39761000-39762200	Enhancers	HSMMtube	muscle
35	chr2:39761000-39763000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:39761200-39761800	Enhancers	NHDF-Ad	bronchial
37	chr2:39761200-39762200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:39761200-39765400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:39761200-39768200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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