Variant report

Variant	rs17083616
Chromosome Location	chr6:121752540-121752541
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	SMC3	chr6:121751576-121752619	Hela-S3	cervix:	n/a	n/a
2	TBP	chr6:121752399-121752756	H1-hESC	embryonic stem cell:	n/a	n/a
3	SP1	chr6:121752075-121752635	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr6:121752238-121752668	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr6:121751374-121752847	SK-N-SH	brain:	n/a	chr6:121751764-121751783
6	RAD21	chr6:121751585-121752624	H1-hESC	embryonic stem cell:	n/a	chr6:121751764-121751783
7	SIN3A	chr6:121752310-121752672	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:121751293..121752559-chr6:122354537..122355313,3	MCF-7	breast:
2	chr6:121751740..121752646-chr6:122851368..122852207,2	K562	blood:

Variant related genes	Relation type
GJA1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17052912	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083515	0.84[ASN][1000 genomes]
rs17083518	0.90[ASN][1000 genomes]
rs17083522	0.93[ASN][1000 genomes]
rs17083533	0.94[ASN][1000 genomes]
rs17083618	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1925223	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2038838	0.84[ASN][1000 genomes]
rs2071165	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2071166	0.91[ASN][1000 genomes]
rs2892767	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763174	0.98[ASN][1000 genomes]
rs3805786	0.84[ASN][1000 genomes]
rs3805788	0.91[ASN][1000 genomes]
rs62427606	0.83[AFR][1000 genomes]
rs62427607	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67144741	0.85[AFR][1000 genomes]
rs6901938	0.85[AFR][1000 genomes]
rs6911179	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917166	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6932422	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73532207	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73532215	0.89[ASN][1000 genomes]
rs9490224	0.80[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	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121751600-121752800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:121751600-121752800	Enhancers	Hela-S3	cervix
3	chr6:121751800-121752600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:121751800-121752600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:121751800-121752800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:121751800-121752800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:121751800-121753000	Enhancers	Fetal Heart	heart
8	chr6:121751800-121753000	Enhancers	Dnd41	blood
9	chr6:121752000-121752600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:121752000-121752600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:121752000-121752800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr6:121752000-121756400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:121752000-121757400	Weak transcription	Brain Angular Gyrus	brain
14	chr6:121752200-121752600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr6:121752200-121752600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:121752200-121752600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr6:121752200-121752600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:121752200-121752600	Enhancers	Stomach Smooth Muscle	stomach
19	chr6:121752200-121752800	Enhancers	A549	lung
20	chr6:121752200-121753000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:121752200-121755600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:121752200-121755600	Weak transcription	Aorta	Aorta
23	chr6:121752200-121755600	Weak transcription	Right Atrium	heart
24	chr6:121752200-121755600	Weak transcription	NHDF-Ad	bronchial
25	chr6:121752200-121756400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:121752200-121757400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:121752400-121752600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:121752400-121752600	Enhancers	Osteobl	bone
29	chr6:121752400-121754400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr6:121752400-121755600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:121752400-121755800	Weak transcription	HUVEC	blood vessel
32	chr6:121752400-121756200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr6:121752400-121756600	Weak transcription	Fetal Lung	lung

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