Variant report

Variant	rs73532207
Chromosome Location	chr6:121755313-121755314
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr6:121755202-121755622	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr6:121755260-121755540	SK-N-SH_RA	brain:	n/a	n/a
3	POLR2A	chr6:121755273-121755355	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr6:121755300-121755482	MCF-7	breast:	n/a	n/a
5	RAD21	chr6:121755126-121755719	HCT-116	colon:	n/a	n/a
6	TAF1	chr6:121755241-121755482	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr6:121755244-121755572	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr6:121755312-121755470	A549	lung:	n/a	n/a
9	CTCF	chr6:121755311-121755505	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr6:121755157-121755540	HCT-116	colon:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:121755306-121755356	NB4	blood:	n/a
2	chr6:121755306-121755356	SK-N-SH_RA	brain:	n/a
3	chr6:121755296-121755346	HCF	heart:	n/a
4	chr6:121755306-121755356	A549	lung:	n/a
5	chr6:121755306-121755356	NHBE	bronchial:	n/a
6	chr6:121755296-121755346	NH-A	brain:	n/a
7	chr6:121755306-121755356	Jurkat	blood:	n/a
8	chr6:121755306-121755356	MCF-7	breast:	n/a
9	chr6:121755306-121755356	ovcar-3	ovarian:	n/a
10	chr6:121755306-121755356	Hepatocyte	liver:	n/a
11	chr6:121755296-121755346	HMEC	breast:	n/a
12	chr6:121755306-121755356	HEK293	kidney:	embryo
13	chr6:121755296-121755346	NHBE	bronchial:	n/a
14	chr6:121755296-121755346	PFSK-1	brain:	n/a
15	chr6:121755306-121755356	AG04449	skin:	fetal
16	chr6:121755296-121755346	BJ	skin:	n/a
17	chr6:121755306-121755356	GM12891	blood:	n/a
18	chr6:121755296-121755346	Hepatocyte	liver:	n/a
19	chr6:121755306-121755356	NT2-D1	testis:	n/a
20	chr6:121755306-121755356	T-47D	breast:	n/a
21	chr6:121755306-121755356	AG04450	lung:	fetal
22	chr6:121755306-121755356	HL-60	blood:	n/a
23	chr6:121755296-121755346	GM19239	blood:	n/a
24	chr6:121755306-121755356	HRPEpiC	eye:	n/a
25	chr6:121755306-121755356	PFSK-1	brain:	n/a
26	chr6:121755306-121755356	AG10803	skin:	n/a
27	chr6:121755306-121755356	GM12878	blood:	n/a
28	chr6:121755296-121755346	GM12891	blood:	n/a
29	chr6:121755296-121755346	Jurkat	blood:	n/a
30	chr6:121755296-121755346	IMR90	lung:	fetal
31	chr6:121755306-121755356	Caco-2	colon:	n/a
32	chr6:121755306-121755356	HUVEC	blood vessel:	n/a
33	chr6:121755306-121755356	HEEpiC	esophagus:	n/a
34	chr6:121755306-121755356	ECC-1	luminal epithelium:	n/a
35	chr6:121755296-121755346	GM06990	blood:	n/a
36	chr6:121755296-121755346	SKMC	muscle:	n/a
37	chr6:121755306-121755356	RPTEC	kidney:	n/a
38	chr6:121755296-121755346	Hela-S3	cervix:	n/a
39	chr6:121755306-121755356	HCPEpiC	choroid plexus:	n/a
40	chr6:121755296-121755346	SAEC	small airway:	n/a
41	chr6:121755306-121755356	U87	brain:	n/a
42	chr6:121755296-121755346	A549	lung:	n/a
43	chr6:121755306-121755356	HRE	kidney:	n/a
44	chr6:121755306-121755356	SAEC	small airway:	n/a
45	chr6:121755296-121755346	MCF10A-Er-Src	breast:	n/a
46	chr6:121755306-121755356	BE2_C	brain:	n/a
47	chr6:121755306-121755356	SK-N-SH	brain:	n/a
48	chr6:121755296-121755346	NT2-D1	testis:	n/a
49	chr6:121755296-121755346	HCT-116	colon:	n/a
50	chr6:121755296-121755346	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:121753097..121755980-chr6:121757909..121760037,2	K562	blood:

No data

Variant related genes	Relation type
GJA1	TF binding region
GJA1	CpG island

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17052912	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17083515	0.82[ASN][1000 genomes]
rs17083518	0.87[ASN][1000 genomes]
rs17083522	0.90[ASN][1000 genomes]
rs17083533	0.91[ASN][1000 genomes]
rs17083616	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17083618	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1925223	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2038838	0.82[ASN][1000 genomes]
rs2071165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2071166	0.90[ASN][1000 genomes]
rs2892767	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3763174	0.97[ASN][1000 genomes]
rs3805786	0.83[ASN][1000 genomes]
rs3805788	0.90[ASN][1000 genomes]
rs62427606	0.83[AFR][1000 genomes]
rs62427607	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67144741	0.96[AFR][1000 genomes]
rs6901938	0.96[AFR][1000 genomes]
rs6911179	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6917166	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6932422	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73532213	0.88[AFR][1000 genomes]
rs73532215	0.88[ASN][1000 genomes]
rs7749457	0.81[AFR][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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121752000-121756400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr6:121752000-121757400	Weak transcription	Brain Angular Gyrus	brain
3	chr6:121752200-121755600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:121752200-121755600	Weak transcription	Aorta	Aorta
5	chr6:121752200-121755600	Weak transcription	Right Atrium	heart
6	chr6:121752200-121755600	Weak transcription	NHDF-Ad	bronchial
7	chr6:121752200-121756400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:121752200-121757400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:121752400-121755600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:121752400-121755800	Weak transcription	HUVEC	blood vessel
11	chr6:121752400-121756200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr6:121752400-121756600	Weak transcription	Fetal Lung	lung
13	chr6:121752600-121755600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:121752600-121755600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:121752600-121755600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:121752600-121755600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:121752600-121755600	Weak transcription	Osteobl	bone
18	chr6:121752600-121756400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr6:121752800-121755400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:121752800-121755600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:121752800-121756400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:121753200-121755600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:121753400-121755800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:121753800-121755800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:121754000-121755600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:121754200-121755400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:121754400-121755600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:121754400-121755600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr6:121754400-121755600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr6:121754400-121755800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr6:121754600-121755600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr6:121754600-121755600	Weak transcription	A549	lung
33	chr6:121754600-121755800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:121754800-121755800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:121755200-121755800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:121755200-121755800	Enhancers	Fetal Heart	heart
37	chr6:121755200-121756000	Enhancers	Ovary	ovary
38	chr6:121755200-121756600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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