Variant report

Variant	rs7768619
Chromosome Location	chr6:132277333-132277334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr6:132277023-132277396	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr6:132277030-132277389	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr6:132276991-132277447	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr6:132276986-132277428	HepG2	liver:	n/a	n/a
5	RAD21	chr6:132277045-132277344	HepG2	liver:	n/a	n/a
6	RAD21	chr6:132277063-132277377	HepG2	liver:	n/a	n/a
7	SMC3	chr6:132277090-132277338	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:132269655-132282174..6:132454814-132459405	GM12878	blood:
2	6:132269655-132282174..6:132434977-132438109	Hela-S3	cervix:
3	6:132269655-132282174..6:132402790-132406656	H1-hESC	embryonic stem cell:	embryo
4	6:132269655-132282174..6:132480387-132483283	H1-hESC	embryonic stem cell:	embryo
5	chr6:132270832..132274014-chr6:132274409..132278281,8	MCF-7	breast:

No data

Variant related genes	Relation type
CTGF	TF binding region
ENSG00000265669	Chromatin interaction
ENSG00000236166	Chromatin interaction
ENSG00000227220	Chromatin interaction
ENSG00000228495	Chromatin interaction
ENSG00000118523	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10872387	1.00[ASW][hapmap];0.81[JPT][hapmap]
rs11154654	1.00[ASW][hapmap];0.80[JPT][hapmap]
rs12055428	0.80[JPT][hapmap]
rs12192108	1.00[ASW][hapmap];0.81[JPT][hapmap]
rs1930994	1.00[ASW][hapmap];0.81[JPT][hapmap]
rs1931001	0.81[JPT][hapmap]
rs2027034	0.80[JPT][hapmap]
rs7747551	0.81[JPT][hapmap]
rs7747601	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7748518	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9402373	0.82[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9402377	0.80[JPT][hapmap]

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	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132272600-132279400	Weak transcription	Pancreas	Pancrea
2	chr6:132273000-132277400	Enhancers	H9 Cell Line	embryonic stem cell
3	chr6:132273000-132277400	Enhancers	Stomach Mucosa	stomach
4	chr6:132273000-132278800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:132273000-132279400	Enhancers	HepG2	liver
6	chr6:132273200-132277400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:132273200-132277400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:132274600-132277600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr6:132274800-132277400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:132274800-132277400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:132274800-132277400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr6:132274800-132277400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:132275600-132299800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:132275800-132279400	Weak transcription	HSMM	muscle
15	chr6:132275800-132279400	Weak transcription	HSMMtube	muscle
16	chr6:132276200-132277400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr6:132276200-132279400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:132276200-132279800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:132276200-132280400	Weak transcription	Colonic Mucosa	Colon
20	chr6:132276200-132287400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:132276400-132277400	Enhancers	HUVEC	blood vessel
22	chr6:132276400-132279400	Weak transcription	Fetal Intestine Large	intestine
23	chr6:132276400-132281800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:132276400-132282000	Weak transcription	Aorta	Aorta
25	chr6:132276600-132297800	Weak transcription	Ovary	ovary
26	chr6:132276800-132279400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr6:132277000-132278400	Weak transcription	Fetal Heart	heart
28	chr6:132277000-132279000	Weak transcription	Fetal Intestine Small	intestine
29	chr6:132277000-132279200	Weak transcription	A549	lung
30	chr6:132277000-132279400	Weak transcription	Osteobl	bone
31	chr6:132277000-132281400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:132277000-132281400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:132277000-132287800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr6:132277200-132279200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:132277200-132287600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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