Variant report

Variant	rs7749739
Chromosome Location	chr6:82470510-82470511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr6:82470479-82470688	HepG2	liver:	n/a	n/a
2	JUND	chr6:82470431-82473277	SK-N-SH	brain:	n/a	chr6:82471093-82471102 chr6:82471093-82471103 chr6:82472838-82472849 chr6:82471094-82471101 chr6:82471092-82471103 chr6:82471094-82471103 chr6:82471092-82471104 chr6:82471093-82471103 chr6:82470484-82470496
3	EP300	chr6:82470455-82472858	SK-N-SH	brain:	n/a	chr6:82470823-82470837 chr6:82472760-82472774 chr6:82471094-82471103
4	HNF4A	chr6:82470496-82470654	HepG2	liver:	n/a	chr6:82470612-82470627

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:82457043..82462432-chr6:82464909..82471112,8	MCF-7	breast:
2	chr6:82469013..82471227-chr6:82473397..82475724,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000219702	TF binding region
ENSG00000206886	TF binding region
ENSG00000219702	Chromatin interaction
ENSG00000206886	Chromatin interaction
ENSG00000112773	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2016762	0.81[EUR][1000 genomes]
rs6924771	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9344223	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9361860	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs964909	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs999567	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]

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	nsv966647	chr6:82469158-82472452	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82463800-82476000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:82463800-82477000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:82464000-82477000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:82464200-82470600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:82464200-82472800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:82464400-82475800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:82464600-82471800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:82465200-82472000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:82465600-82470600	Weak transcription	Fetal Stomach	stomach
10	chr6:82465600-82470600	Weak transcription	NHDF-Ad	bronchial
11	chr6:82467200-82474000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:82467400-82477000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:82467800-82476200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:82468000-82476000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:82468400-82471800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr6:82468800-82472000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:82468800-82472000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr6:82468800-82472200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr6:82469000-82471000	Enhancers	HepG2	liver
20	chr6:82469000-82472200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:82469000-82472200	Enhancers	NHEK	skin
22	chr6:82469200-82472400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:82469200-82472600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:82469200-82472600	Enhancers	HMEC	breast
25	chr6:82469200-82473200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:82469400-82470600	Weak transcription	Small Intestine	intestine
27	chr6:82469400-82470800	Enhancers	Fetal Intestine Large	intestine
28	chr6:82469600-82470600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr6:82469600-82472600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:82469600-82472800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:82469600-82472800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:82469600-82473200	Enhancers	Osteobl	bone
33	chr6:82469800-82470600	Weak transcription	Stomach Mucosa	stomach
34	chr6:82469800-82470600	Weak transcription	A549	lung
35	chr6:82469800-82472000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:82469800-82472000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:82469800-82473400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:82469800-82475600	Weak transcription	Fetal Intestine Small	intestine
39	chr6:82469800-82476200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:82470000-82470800	Weak transcription	NHLF	lung
41	chr6:82470000-82476200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr6:82470400-82471600	Enhancers	HSMM	muscle
43	chr6:82470400-82473200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:82470400-82473200	Enhancers	Hela-S3	cervix

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