Variant report

Variant	rs184999
Chromosome Location	chr5:57618340-57618341
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	chr5:57615984..57618910-chr5:57754343..57756534,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs151807	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs151914	0.86[JPT][hapmap]
rs152012	0.98[ASN][1000 genomes]
rs1651127	0.97[ASN][1000 genomes]
rs173425	0.85[CHB][hapmap]
rs181764	0.86[JPT][hapmap]
rs190304	0.82[JPT][hapmap]
rs245278	0.86[CHB][hapmap]
rs245481	0.86[JPT][hapmap]
rs245491	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2910578	0.84[JPT][hapmap]
rs37535	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs37537	1.00[CHB][hapmap];0.89[JPT][hapmap];0.99[ASN][1000 genomes]
rs41385	0.85[JPT][hapmap]
rs42964	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	esv3489100	chr5:57545689-57669673	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3489101	chr5:57545689-57669673	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57611000-57618400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:57611000-57618400	Weak transcription	HMEC	breast
3	chr5:57611200-57618600	Weak transcription	NHEK	skin
4	chr5:57613200-57618400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:57616400-57620200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:57616600-57619800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:57617400-57618400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:57617400-57618400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:57617400-57619600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:57617600-57619000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:57617600-57619000	Enhancers	HUVEC	blood vessel
12	chr5:57617600-57622800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:57617800-57618800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:57617800-57619000	Enhancers	NH-A	brain
15	chr5:57617800-57619200	Enhancers	NHDF-Ad	bronchial
16	chr5:57617800-57619200	Enhancers	Osteobl	bone
17	chr5:57618000-57618800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:57618000-57619000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:57618200-57618600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:57618200-57618600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:57618200-57618800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:57618200-57619000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:57618200-57619200	Enhancers	A549	lung
24	chr5:57618200-57619200	Enhancers	HSMM	muscle
25	chr5:57618200-57619400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr5:57618200-57619400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:57618200-57619600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:57618200-57619800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr5:57618200-57620000	Enhancers	HUES64 Cell Line	embryonic stem cell

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