Variant report

Variant	rs10949014
Chromosome Location	chr6:57131213-57131214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:57126469..57129335-chr6:57130714..57132915,2	MCF-7	breast:
2	chr6:57130908..57133107-chr6:57178261..57179805,2	MCF-7	breast:
3	chr6:57128467..57134592-chr6:57180122..57183939,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146143	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10080526	0.81[ASN][1000 genomes]
rs10949013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13210430	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16888410	0.86[CHB][hapmap]
rs16888420	0.81[ASN][1000 genomes]
rs16888435	0.85[ASN][1000 genomes]
rs16888439	0.93[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs183418	0.81[ASN][1000 genomes]
rs223289	1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34331825	0.95[ASN][1000 genomes]
rs62415955	0.83[ASN][1000 genomes]
rs62418081	0.82[ASN][1000 genomes]
rs6900622	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6905517	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6905598	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6906645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464431	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9475804	0.85[ASN][1000 genomes]
rs9475805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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]
rs9475808	0.85[ASN][1000 genomes]
rs984684	0.93[CHB][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1034095	chr6:57102042-57162808	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	6 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	chr6:57125200-57133200	Enhancers	Rectal Smooth Muscle	rectum
2	chr6:57127800-57132200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr6:57128400-57132600	Weak transcription	Adipose Nuclei	Adipose
4	chr6:57128800-57132200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:57128800-57132600	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:57129800-57131400	Enhancers	HSMM	muscle
7	chr6:57129800-57132800	Enhancers	HSMMtube	muscle
8	chr6:57130000-57131400	Enhancers	HUVEC	blood vessel
9	chr6:57130200-57131400	Enhancers	Fetal Stomach	stomach
10	chr6:57130200-57132400	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr6:57130400-57132000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:57130400-57132200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:57130400-57133000	Enhancers	Stomach Smooth Muscle	stomach
14	chr6:57130800-57132400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:57131000-57132000	Weak transcription	NHEK	skin
16	chr6:57131000-57132200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:57131000-57132600	Weak transcription	Hela-S3	cervix
18	chr6:57131000-57132800	Enhancers	Osteobl	bone
19	chr6:57131200-57131400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:57131200-57132200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:57131200-57132200	Weak transcription	HMEC	breast
22	chr6:57131200-57132400	Weak transcription	NH-A	brain
23	chr6:57131200-57132800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:57131200-57132800	Enhancers	NHDF-Ad	bronchial
25	chr6:57131200-57133000	Enhancers	Fetal Lung	lung
26	chr6:57131200-57133200	Enhancers	Colon Smooth Muscle	Colon
27	chr6:57131200-57133200	Enhancers	NHLF	lung
28	chr6:57131200-57133400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:57131200-57133400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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