Variant report

Variant	rs62419729
Chromosome Location	chr6:71553088-71553089
allele	C/G
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	chr6:71552964..71553967-chr6:71593795..71595014,5	MCF-7	breast:
3	chr6:71416313..71416824-chr6:71553004..71553519,2	MCF-7	breast:
4	chr6:71546521..71548760-chr6:71551365..71554276,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10945242	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11962454	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12190398	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12190869	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12201672	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12210698	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1333965	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55733349	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62419707	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62419724	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62419736	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62419740	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62419741	0.98[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:62 , 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	chr6:71516400-71562200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:71516400-71567600	Weak transcription	Pancreas	Pancrea
7	chr6:71516600-71567600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:71522000-71558200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:71531200-71571000	Weak transcription	Stomach Mucosa	stomach
10	chr6:71532400-71557200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr6:71533000-71567600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:71533200-71557000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:71534000-71563200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr6:71534800-71567600	Weak transcription	Aorta	Aorta
15	chr6:71537200-71556000	Weak transcription	Right Ventricle	heart
16	chr6:71537600-71574200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:71538800-71553200	Weak transcription	Gastric	stomach
18	chr6:71538800-71555400	Weak transcription	Esophagus	oesophagus
19	chr6:71539200-71556000	Weak transcription	Fetal Intestine Small	intestine
20	chr6:71543800-71562200	Weak transcription	Fetal Thymus	thymus
21	chr6:71544400-71562200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:71544400-71562200	Weak transcription	Adipose Nuclei	Adipose
23	chr6:71544400-71567200	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:71544400-71568800	Weak transcription	HSMMtube	muscle
25	chr6:71544400-71569800	Weak transcription	Placenta	Placenta
26	chr6:71544600-71566600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:71545400-71566200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr6:71545400-71572200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr6:71546000-71557400	Weak transcription	Lung	lung
30	chr6:71546200-71567000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:71547000-71562200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr6:71547200-71567000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr6:71547200-71567600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr6:71547800-71567200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr6:71548200-71556000	Weak transcription	Fetal Stomach	stomach
36	chr6:71548600-71567600	Weak transcription	Left Ventricle	heart
37	chr6:71549000-71567400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr6:71549200-71567200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr6:71549200-71570000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:71549400-71558200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:71549800-71553200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr6:71549800-71555400	Weak transcription	Psoas Muscle	Psoas
43	chr6:71549800-71555600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:71549800-71557200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:71549800-71568800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr6:71549800-71573000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:71550000-71555600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr6:71550000-71575400	Weak transcription	Ovary	ovary
49	chr6:71550200-71562200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr6:71550400-71555800	Weak transcription	Fetal Intestine Large	intestine

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