Variant report

Variant	rs327680
Chromosome Location	chr7:80803091-80803092
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	FOXA1	chr7:80803050-80803573	ECC-1	luminal epithelium:	n/a	n/a
2	BCL3	chr7:80803015-80803706	A549	lung:	n/a	n/a
3	TCF12	chr7:80802950-80803569	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr7:80803032-80803593	Hela-S3	cervix:	n/a	chr7:80803497-80803506
5	FOXA2	chr7:80803019-80803628	A549	lung:	n/a	n/a
6	SMC3	chr7:80803062-80803741	Hela-S3	cervix:	n/a	n/a
7	TEAD4	chr7:80802974-80803536	ECC-1	luminal epithelium:	n/a	n/a
8	FOXA1	chr7:80803026-80803579	T-47D	breast:	n/a	n/a
9	MAX	chr7:80802894-80803759	A549	lung:	n/a	chr7:80803497-80803506
10	NFIC	chr7:80802907-80803636	SK-N-SH	brain:	n/a	n/a
11	EP300	chr7:80802736-80803840	A549	lung:	n/a	chr7:80803463-80803473
12	EP300	chr7:80802815-80803839	A549	lung:	n/a	chr7:80803463-80803473
13	NR3C1	chr7:80803039-80803609	A549	lung:	n/a	chr7:80803516-80803533
14	NR3C1	chr7:80802986-80803602	A549	lung:	n/a	chr7:80803516-80803533
15	CHD2	chr7:80803050-80803682	Hela-S3	cervix:	n/a	n/a
16	MAX	chr7:80802977-80803663	A549	lung:	n/a	chr7:80803497-80803506
17	SP1	chr7:80802821-80803828	A549	lung:	n/a	n/a
18	RFX5	chr7:80803031-80803647	Hela-S3	cervix:	n/a	n/a
19	GATA3	chr7:80803000-80803357	T-47D	breast:	n/a	n/a
20	REST	chr7:80802776-80803811	A549	lung:	n/a	chr7:80803758-80803778 chr7:80803764-80803778 chr7:80803758-80803778
21	GTF3C2	chr7:80802959-80803583	Hela-S3	cervix:	n/a	n/a
22	TCF12	chr7:80802699-80803973	A549	lung:	n/a	n/a
23	BCL3	chr7:80802786-80803832	A549	lung:	n/a	n/a
24	GABPA	chr7:80802846-80803535	A549	lung:	n/a	n/a
25	POLR2A	chr7:80802974-80803579	PANC-1	pancreas:	n/a	n/a
26	CEBPB	chr7:80802976-80803776	A549	lung:	n/a	n/a
27	TEAD4	chr7:80802945-80803718	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr7:80802805-80803793	MCF10A-Er-Src	breast:	n/a	n/a
29	FOXA2	chr7:80802837-80803735	A549	lung:	n/a	n/a
30	NR3C1	chr7:80803021-80803705	A549	lung:	n/a	chr7:80803516-80803533
31	ELF1	chr7:80802972-80803477	A549	lung:	n/a	n/a
32	EP300	chr7:80802840-80803639	ECC-1	luminal epithelium:	n/a	chr7:80803463-80803473
33	NR3C1	chr7:80803079-80803652	A549	lung:	n/a	chr7:80803516-80803533
34	CEBPB	chr7:80803075-80803700	Hela-S3	cervix:	n/a	n/a
35	GATA3	chr7:80802935-80803737	A549	lung:	n/a	n/a
36	NFIC	chr7:80803044-80803696	ECC-1	luminal epithelium:	n/a	n/a
37	USF1	chr7:80803046-80803679	A549	lung:	n/a	n/a
38	ZBTB33	chr7:80802975-80803558	A549	lung:	n/a	n/a
39	TBP	chr7:80802897-80803620	Hela-S3	cervix:	n/a	chr7:80803113-80803124
40	TEAD4	chr7:80803073-80803622	A549	lung:	n/a	n/a
41	BRCA1	chr7:80802930-80803818	Hela-S3	cervix:	n/a	n/a
42	FOSL2	chr7:80802918-80803819	A549	lung:	n/a	chr7:80802928-80802937 chr7:80803118-80803130 chr7:80802953-80802965
43	STAT3	chr7:80803045-80803625	Hela-S3	cervix:	n/a	n/a
44	RCOR1	chr7:80803063-80803262	K562	blood:	n/a	n/a
45	GATA3	chr7:80802730-80803868	A549	lung:	n/a	n/a
46	RCOR1	chr7:80803042-80803706	Hela-S3	cervix:	n/a	n/a
47	TCF7L2	chr7:80802895-80803697	PANC-1	pancreas:	n/a	n/a
48	NFIC	chr7:80802860-80803794	ECC-1	luminal epithelium:	n/a	n/a
49	TCF12	chr7:80803049-80803586	ECC-1	luminal epithelium:	n/a	n/a
50	SP1	chr7:80802854-80803820	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80546517..80551479-chr7:80801945..80805775,5	MCF-7	breast:
2	chr7:80546356..80552735-chr7:80798673..80805379,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237896	TF binding region
ENSG00000075223	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12667286	0.81[ASN][1000 genomes]
rs167862	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs327665	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs327674	0.93[EUR][1000 genomes]
rs327679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327681	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327684	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs327688	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327689	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327694	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327698	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4524735	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs477191	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs567272	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv831044	chr7:80721773-80918591	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3526326	chr7:80801202-80803906	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80800200-80804600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:80802800-80803200	Active TSS	A549	lung
3	chr7:80802800-80803400	Enhancers	Fetal Heart	heart
4	chr7:80802800-80803600	Enhancers	Stomach Mucosa	stomach
5	chr7:80802800-80804600	Enhancers	HSMMtube	muscle
6	chr7:80803000-80803200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:80803000-80803200	Active TSS	K562	blood
8	chr7:80803000-80803400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:80803000-80803400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:80803000-80803400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:80803000-80803400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:80803000-80803400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:80803000-80803400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:80803000-80803400	Enhancers	Fetal Kidney	kidney
15	chr7:80803000-80803400	Flanking Active TSS	NHLF	lung
16	chr7:80803000-80803600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr7:80803000-80803600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:80803000-80803600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr7:80803000-80803600	Active TSS	Aorta	Aorta
20	chr7:80803000-80803600	Enhancers	Fetal Lung	lung
21	chr7:80803000-80803600	Flanking Active TSS	Hela-S3	cervix
22	chr7:80803000-80803600	Enhancers	HepG2	liver
23	chr7:80803000-80803600	Enhancers	HMEC	breast
24	chr7:80803000-80803600	Flanking Active TSS	Osteobl	bone
25	chr7:80803000-80803800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:80803000-80803800	Flanking Active TSS	NH-A	brain
27	chr7:80803000-80804000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:80803000-80805200	Enhancers	HSMM	muscle
29	chr7:80803000-80805600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:80803000-80805600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:80803000-80805600	Enhancers	HUES64 Cell Line	embryonic stem cell

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