Variant report

Variant	rs4946777
Chromosome Location	chr6:107140727-107140728
allele	A/G
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	ATF2	chr6:107139976-107140804	H1-hESC	embryonic stem cell:	n/a	n/a
2	EP300	chr6:107139897-107140757	H1-hESC	embryonic stem cell:	n/a	chr6:107140436-107140450 chr6:107140453-107140467
3	CEBPB	chr6:107140028-107140873	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:60915630..60918321-chr6:107139758..107142000,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229654	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10485221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11965826	0.96[EUR][1000 genomes]
rs11970567	0.80[EUR][1000 genomes]
rs12111123	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12527773	0.83[AMR][1000 genomes]
rs12528553	0.83[AMR][1000 genomes]
rs12661223	1.00[EUR][1000 genomes]
rs12663120	0.83[AMR][1000 genomes]
rs12665651	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17052232	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17067613	0.83[AMR][1000 genomes]
rs17067614	0.83[AMR][1000 genomes]
rs17567332	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1979347	0.83[AMR][1000 genomes]
rs2354224	0.81[AMR][1000 genomes]
rs28537731	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34702989	1.00[EUR][1000 genomes]
rs35913079	1.00[EUR][1000 genomes]
rs3761800	0.83[AMR][1000 genomes]
rs3789230	0.83[AMR][1000 genomes]
rs3804339	0.81[AMR][1000 genomes]
rs4276539	0.86[AMR][1000 genomes]
rs4363071	0.83[AMR][1000 genomes]
rs4946781	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56845422	0.83[AMR][1000 genomes]
rs58169264	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59668897	0.83[AMR][1000 genomes]
rs59742959	0.82[EUR][1000 genomes]
rs60838249	0.82[EUR][1000 genomes]
rs6914551	1.00[EUR][1000 genomes]
rs6934849	1.00[EUR][1000 genomes]
rs73511912	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7357000	0.96[EUR][1000 genomes]
rs9372139	0.86[AMR][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	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:107136000-107148200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:107136200-107140800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:107136400-107140800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:107137000-107141800	Weak transcription	Primary B cells from cord blood	blood
5	chr6:107137000-107141800	Weak transcription	Fetal Intestine Small	intestine
6	chr6:107137600-107141800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:107139000-107142200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:107139000-107142200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr6:107139000-107142400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:107139000-107142600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr6:107139000-107143000	Enhancers	Stomach Mucosa	stomach
12	chr6:107139200-107141600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:107139200-107141800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr6:107139200-107142600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr6:107139200-107142800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:107139400-107140800	Enhancers	NHEK	skin
17	chr6:107139400-107142200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr6:107139400-107142400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr6:107139600-107141000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:107139600-107141000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:107139600-107141200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr6:107139800-107141000	Enhancers	HMEC	breast
23	chr6:107139800-107141400	Enhancers	Duodenum Mucosa	Duodenum
24	chr6:107139800-107141400	Enhancers	HSMMtube	muscle
25	chr6:107139800-107142600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:107140000-107140800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:107140000-107140800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:107140000-107140800	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr6:107140000-107141000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:107140000-107141200	Enhancers	HSMM	muscle
31	chr6:107140000-107142000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:107140000-107142000	Enhancers	Adipose Nuclei	Adipose
33	chr6:107140000-107142400	Enhancers	Fetal Muscle Leg	muscle
34	chr6:107140200-107140800	Weak transcription	Brain Anterior Caudate	brain
35	chr6:107140200-107141000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:107140200-107141800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:107140600-107141000	Enhancers	Pancreas	Pancrea
38	chr6:107140600-107141000	Enhancers	Small Intestine	intestine
39	chr6:107140600-107141200	Enhancers	Liver	Liver
40	chr6:107140600-107141200	Enhancers	Fetal Thymus	thymus
41	chr6:107140600-107141400	Enhancers	Hela-S3	cervix
42	chr6:107140600-107142400	Enhancers	H1 Cell Line	embryonic stem cell

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