Variant report

Variant	rs6705008
Chromosome Location	chr2:150993034-150993035
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	chr2:150990438..150993120-chr2:150995084..150997396,2	MCF-7	breast:
2	chr2:150992830..150994521-chr2:151339428..151342007,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115963	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11688905	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12624103	0.81[ASN][1000 genomes]
rs16827843	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34339453	0.81[ASN][1000 genomes]
rs6705368	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005441	chr2:150457624-151060247	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv469524	chr2:150927500-151076920	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:150984800-150997800	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:150989800-150993800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:150989800-150994800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr2:150990000-150993200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:150990000-150993800	Enhancers	NHDF-Ad	bronchial
6	chr2:150990000-150995800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:150990200-150993200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:150990200-150993200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:150990600-150998000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:150991000-150997000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:150991000-150997600	Weak transcription	HSMM	muscle
12	chr2:150991200-150993200	Weak transcription	Fetal Kidney	kidney
13	chr2:150991200-150993400	Weak transcription	HMEC	breast
14	chr2:150991200-150999600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:150991400-150994000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:150991400-150996600	Weak transcription	HUVEC	blood vessel
17	chr2:150991400-150997800	Weak transcription	NHLF	lung
18	chr2:150991800-150995200	Weak transcription	Osteobl	bone
19	chr2:150991800-150996800	Weak transcription	NH-A	brain
20	chr2:150992000-150994000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:150992000-150995600	Enhancers	NHEK	skin
22	chr2:150992000-150997200	Weak transcription	Dnd41	blood
23	chr2:150992200-150998200	Weak transcription	HSMMtube	muscle
24	chr2:150992400-150994400	Enhancers	A549	lung
25	chr2:150992400-150994800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:150992600-150993400	Weak transcription	Esophagus	oesophagus
27	chr2:150992600-150995400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:150993000-150997800	Weak transcription	Fetal Lung	lung

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