Variant report

Variant	rs10070290
Chromosome Location	chr5:57705116-57705117
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	chr5:57704438..57706069-chr5:57754618..57757293,2	MCF-7	breast:
2	chr5:57704818..57707042-chr5:57711900..57714424,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10035488	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10040280	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10042036	0.83[EUR][1000 genomes]
rs10471450	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10472048	0.81[EUR][1000 genomes]
rs10472049	0.81[EUR][1000 genomes]
rs10472054	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10472060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10472061	0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12188948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13328216	0.84[EUR][1000 genomes]
rs1508904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17765151	0.84[EUR][1000 genomes]
rs17765997	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1848512	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2021394	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2021395	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2047751	0.96[EUR][1000 genomes]
rs28459538	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28475041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs378828	0.81[YRI][hapmap]
rs3846534	0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56242962	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59497655	0.82[EUR][1000 genomes]
rs59595416	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60482268	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6450473	0.82[EUR][1000 genomes]
rs72758116	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72758120	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72758121	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7717376	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9292159	0.82[EUR][1000 genomes]
rs9292160	0.95[EUR][1000 genomes]
rs984147	0.92[AMR][1000 genomes];0.99[EUR][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	nsv508358	chr5:57673230-57709684	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1028460	chr5:57691003-57719435	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57699600-57708200	Enhancers	HMEC	breast
2	chr5:57700000-57708000	Enhancers	NHEK	skin
3	chr5:57701000-57705800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:57701400-57706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:57702400-57705600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:57702400-57706600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:57702800-57705400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:57703600-57705800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:57703600-57706800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:57703600-57706800	Weak transcription	Hela-S3	cervix
11	chr5:57703600-57706800	Weak transcription	HSMMtube	muscle
12	chr5:57703800-57706000	Weak transcription	Osteobl	bone
13	chr5:57703800-57706800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:57703800-57708200	Enhancers	A549	lung
15	chr5:57704000-57706000	Weak transcription	NH-A	brain
16	chr5:57704200-57705400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:57704400-57705400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:57704400-57705800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:57704400-57706000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:57704600-57705200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:57704600-57705600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:57704600-57705800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:57704600-57705800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:57704600-57705800	Weak transcription	HSMM	muscle
25	chr5:57704600-57706200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:57704600-57707000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:57704600-57707600	Weak transcription	Esophagus	oesophagus
28	chr5:57704800-57706000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:57705000-57705200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:57705000-57705400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:57705000-57706600	Enhancers	H9 Cell Line	embryonic stem cell

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