Variant report

Variant	rs7748778
Chromosome Location	chr6:71547572-71547573
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:71545104..71548223-chr6:71550454..71553252,3	MCF-7	breast:
2	chr6:71546521..71548760-chr6:71551365..71554276,2	K562	blood:
3	chr6:71542227..71544614-chr6:71547233..71549836,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12215915	0.87[YRI][hapmap]
rs2273566	0.83[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs2274972	0.97[EUR][1000 genomes]
rs3734369	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4282370	0.84[YRI][hapmap]
rs4706460	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[EUR][1000 genomes]
rs4706462	0.86[YRI][hapmap]
rs4707842	0.97[EUR][1000 genomes]
rs4707844	1.00[CEU][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs59058072	0.92[AFR][1000 genomes]
rs61001507	0.97[EUR][1000 genomes]
rs6902786	0.97[EUR][1000 genomes]
rs6919104	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6940971	0.97[EUR][1000 genomes]
rs6941789	0.97[EUR][1000 genomes]
rs7747310	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes]
rs7754217	1.00[YRI][hapmap]
rs7764445	0.97[EUR][1000 genomes]
rs9342795	0.93[YRI][hapmap]
rs9342796	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9346403	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9354937	0.97[EUR][1000 genomes]
rs9354938	0.97[EUR][1000 genomes]
rs9360426	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs9364102	0.93[EUR][1000 genomes]
rs9364106	0.93[YRI][hapmap]
rs9364109	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9364111	0.83[EUR][1000 genomes];0.87[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	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71474600-71568800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:71492400-71563600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:71506800-71570600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr6:71511600-71554600	Weak transcription	Dnd41	blood
5	chr6:71514800-71548400	Weak transcription	Ovary	ovary
6	chr6:71516400-71562200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:71516400-71567600	Weak transcription	Pancreas	Pancrea
8	chr6:71516600-71567600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:71518400-71552400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:71522000-71558200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:71524600-71548200	Weak transcription	Psoas Muscle	Psoas
12	chr6:71531200-71571000	Weak transcription	Stomach Mucosa	stomach
13	chr6:71532400-71557200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr6:71533000-71567600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:71533200-71547600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr6:71533200-71548000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr6:71533200-71557000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:71534000-71550200	Weak transcription	Primary B cells from cord blood	blood
19	chr6:71534000-71563200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr6:71534800-71567600	Weak transcription	Aorta	Aorta
21	chr6:71535600-71548200	Weak transcription	Left Ventricle	heart
22	chr6:71537200-71556000	Weak transcription	Right Ventricle	heart
23	chr6:71537600-71574200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:71538800-71553200	Weak transcription	Gastric	stomach
25	chr6:71538800-71555400	Weak transcription	Esophagus	oesophagus
26	chr6:71539200-71556000	Weak transcription	Fetal Intestine Small	intestine
27	chr6:71539800-71548200	Weak transcription	Fetal Intestine Large	intestine
28	chr6:71543800-71562200	Weak transcription	Fetal Thymus	thymus
29	chr6:71544400-71562200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:71544400-71562200	Weak transcription	Adipose Nuclei	Adipose
31	chr6:71544400-71567200	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:71544400-71568800	Weak transcription	HSMMtube	muscle
33	chr6:71544400-71569800	Weak transcription	Placenta	Placenta
34	chr6:71544600-71548000	Weak transcription	Liver	Liver
35	chr6:71544600-71566600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:71544800-71548400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:71544800-71548800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:71544800-71548800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:71545400-71548200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:71545400-71566200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr6:71545400-71572200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr6:71545600-71549200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:71546000-71557400	Weak transcription	Lung	lung
44	chr6:71546200-71549000	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr6:71546200-71567000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr6:71546400-71548000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr6:71546800-71550400	Enhancers	HepG2	liver
48	chr6:71547000-71562200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr6:71547200-71548000	Weak transcription	Primary T cells from cord blood	blood
50	chr6:71547200-71548000	Weak transcription	Monocytes-CD14+_RO01746	blood

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