Variant report

Variant	rs7775847
Chromosome Location	chr6:56242453-56242454
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:56242114..56244288-chr6:56303044..56304750,2	MCF-7	breast:
2	chr6:56239249..56241826-chr6:56241838..56243867,3	MCF-7	breast:
3	chr6:56241738..56245167-chr6:56250105..56253808,4	MCF-7	breast:
4	chr6:56234551..56238270-chr6:56238885..56242928,5	MCF-7	breast:
5	chr6:56241662..56247297-chr6:56405930..56409718,9	MCF-7	breast:
6	chr6:56241805..56244014-chr6:56247692..56249207,2	MCF-7	breast:
7	chr6:56241466..56244174-chr6:56245136..56247766,2	MCF-7	breast:
8	chr6:56236459..56239073-chr6:56241868..56243876,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11751569	1.00[YRI][hapmap]
rs11757910	1.00[YRI][hapmap]
rs11757941	1.00[YRI][hapmap]
rs11759493	0.82[YRI][hapmap]
rs13218268	1.00[YRI][hapmap]
rs2294697	1.00[YRI][hapmap]
rs2397221	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2397223	0.81[CHB][hapmap]
rs4143828	0.82[YRI][hapmap]
rs4715620	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4715630	0.82[YRI][hapmap]
rs595238	0.90[YRI][hapmap]
rs601783	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs603164	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs604857	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs611044	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs619485	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs633348	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs636389	0.95[CEU][hapmap];0.80[JPT][hapmap];0.90[YRI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6459158	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs646336	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs649982	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs659697	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6911502	0.90[YRI][hapmap]
rs6915564	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6936834	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7741295	0.82[YRI][hapmap]
rs7762629	0.82[YRI][hapmap]

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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56236600-56242800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:56240000-56243000	Weak transcription	HMEC	breast
3	chr6:56240400-56246400	Weak transcription	Fetal Intestine Large	intestine
4	chr6:56240400-56246800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:56240400-56247400	Weak transcription	Pancreas	Pancrea
6	chr6:56240400-56252400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:56240600-56243200	Weak transcription	Fetal Thymus	thymus
8	chr6:56240600-56243400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:56240600-56245200	Weak transcription	Adipose Nuclei	Adipose
10	chr6:56240600-56247400	Weak transcription	Aorta	Aorta
11	chr6:56240600-56252200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:56240600-56252400	Weak transcription	Left Ventricle	heart
13	chr6:56240800-56251200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:56241000-56242800	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:56241000-56246400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:56241200-56243200	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:56241200-56243200	Weak transcription	NHEK	skin
18	chr6:56241200-56243400	Weak transcription	Fetal Stomach	stomach
19	chr6:56241200-56249000	Weak transcription	Psoas Muscle	Psoas
20	chr6:56241200-56249600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr6:56241200-56252400	Weak transcription	Right Ventricle	heart
22	chr6:56241400-56242600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:56241400-56243000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:56242200-56243000	Enhancers	Hela-S3	cervix
25	chr6:56242200-56243800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:56242200-56244000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr6:56242200-56244000	Enhancers	Placenta	Placenta
28	chr6:56242200-56245400	Enhancers	HepG2	liver
29	chr6:56242400-56242600	Enhancers	Lung	lung
30	chr6:56242400-56242600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr6:56242400-56243800	Enhancers	Fetal Muscle Trunk	muscle

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