Variant report

Variant	rs72960607
Chromosome Location	chr6:119540259-119540260
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119539721..119541737-chr6:119545177..119547748,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1535934	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17052758	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs17588230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17588322	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17588655	0.83[ASN][1000 genomes]
rs2299883	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3778107	1.00[AFR][1000 genomes]
rs57719766	0.83[ASN][1000 genomes]
rs72956777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72960610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72960613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72960629	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72962518	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72962556	0.83[ASN][1000 genomes]
rs72964499	0.83[ASN][1000 genomes]
rs72968477	1.00[AFR][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	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1034992	chr6:119512657-119540895	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119494600-119547400	Weak transcription	Esophagus	oesophagus
2	chr6:119519200-119558400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:119524800-119558400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:119525400-119548600	Weak transcription	Aorta	Aorta
5	chr6:119525400-119556000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:119525400-119558400	Weak transcription	Small Intestine	intestine
7	chr6:119525800-119554200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr6:119525800-119555800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:119526000-119555200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:119526000-119558400	Weak transcription	Placenta	Placenta
11	chr6:119526200-119558400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:119528600-119551200	Weak transcription	Primary B cells from cord blood	blood
13	chr6:119531200-119552000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:119531600-119558400	Weak transcription	NHLF	lung
15	chr6:119536800-119541600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:119537200-119545400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:119537400-119547400	Weak transcription	Pancreas	Pancrea
18	chr6:119537400-119550800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:119537400-119554000	Weak transcription	Fetal Intestine Large	intestine
20	chr6:119537400-119554000	Weak transcription	Fetal Intestine Small	intestine
21	chr6:119537400-119556800	Weak transcription	Fetal Stomach	stomach
22	chr6:119537600-119545200	Weak transcription	Adipose Nuclei	Adipose
23	chr6:119537600-119546400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:119537600-119546400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:119537600-119558400	Weak transcription	Right Atrium	heart
26	chr6:119537800-119548400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:119537800-119555600	Weak transcription	Left Ventricle	heart
28	chr6:119537800-119558400	Weak transcription	Ovary	ovary
29	chr6:119538400-119541600	Weak transcription	Liver	Liver
30	chr6:119538400-119548400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:119538600-119543800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:119539600-119541000	Enhancers	NHEK	skin
33	chr6:119539800-119540400	Genic enhancers	K562	blood
34	chr6:119539800-119540600	Enhancers	Stomach Mucosa	stomach
35	chr6:119539800-119541000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:119539800-119541000	Enhancers	HMEC	breast
37	chr6:119540000-119542600	Strong transcription	HepG2	liver
38	chr6:119540000-119554800	Weak transcription	Gastric	stomach

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