Variant report

Variant	rs327681
Chromosome Location	chr7:80803633-80803634
allele	C/T
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	BCL3	chr7:80803015-80803706	A549	lung:	n/a	n/a
2	SMC3	chr7:80803062-80803741	Hela-S3	cervix:	n/a	n/a
3	FOS	chr7:80803102-80803724	MCF10A-Er-Src	breast:	n/a	chr7:80803118-80803130
4	MAX	chr7:80802894-80803759	A549	lung:	n/a	chr7:80803497-80803506
5	NFIC	chr7:80802907-80803636	SK-N-SH	brain:	n/a	n/a
6	CEBPB	chr7:80803183-80803722	A549	lung:	n/a	n/a
7	EP300	chr7:80802736-80803840	A549	lung:	n/a	chr7:80803463-80803473
8	CEBPB	chr7:80803122-80803680	A549	lung:	n/a	n/a
9	EP300	chr7:80802815-80803839	A549	lung:	n/a	chr7:80803463-80803473
10	STAT3	chr7:80803219-80803693	MCF10A-Er-Src	breast:	n/a	n/a
11	CHD2	chr7:80803050-80803682	Hela-S3	cervix:	n/a	n/a
12	MAX	chr7:80802977-80803663	A549	lung:	n/a	chr7:80803497-80803506
13	SP1	chr7:80802821-80803828	A549	lung:	n/a	n/a
14	RFX5	chr7:80803031-80803647	Hela-S3	cervix:	n/a	n/a
15	MYC	chr7:80803105-80803708	MCF10A-Er-Src	breast:	n/a	chr7:80803497-80803506
16	REST	chr7:80802776-80803811	A549	lung:	n/a	chr7:80803758-80803778 chr7:80803764-80803778 chr7:80803758-80803778
17	CEBPB	chr7:80803130-80803669	IMR90	lung:	n/a	n/a
18	FOS	chr7:80803333-80803714	MCF10A-Er-Src	breast:	n/a	n/a
19	TCF12	chr7:80802699-80803973	A549	lung:	n/a	n/a
20	FOS	chr7:80803204-80803741	MCF10A-Er-Src	breast:	n/a	n/a
21	BCL3	chr7:80802786-80803832	A549	lung:	n/a	n/a
22	CEBPB	chr7:80802976-80803776	A549	lung:	n/a	n/a
23	TEAD4	chr7:80802945-80803718	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr7:80802805-80803793	MCF10A-Er-Src	breast:	n/a	n/a
25	REST	chr7:80803560-80803796	Hela-S3	cervix:	n/a	chr7:80803758-80803778 chr7:80803764-80803778 chr7:80803758-80803778
26	FOXA2	chr7:80802837-80803735	A549	lung:	n/a	n/a
27	NR3C1	chr7:80803021-80803705	A549	lung:	n/a	chr7:80803516-80803533
28	EP300	chr7:80802840-80803639	ECC-1	luminal epithelium:	n/a	chr7:80803463-80803473
29	NR3C1	chr7:80803079-80803652	A549	lung:	n/a	chr7:80803516-80803533
30	MYC	chr7:80803162-80803716	MCF10A-Er-Src	breast:	n/a	chr7:80803497-80803506
31	NR3C1	chr7:80803165-80803689	A549	lung:	n/a	chr7:80803516-80803533
32	STAT3	chr7:80803303-80803715	MCF10A-Er-Src	breast:	n/a	n/a
33	CEBPB	chr7:80803075-80803700	Hela-S3	cervix:	n/a	n/a
34	GATA3	chr7:80802935-80803737	A549	lung:	n/a	n/a
35	NFIC	chr7:80803044-80803696	ECC-1	luminal epithelium:	n/a	n/a
36	USF1	chr7:80803046-80803679	A549	lung:	n/a	n/a
37	BRCA1	chr7:80802930-80803818	Hela-S3	cervix:	n/a	n/a
38	FOSL2	chr7:80802918-80803819	A549	lung:	n/a	chr7:80802928-80802937 chr7:80803118-80803130 chr7:80802953-80802965
39	GATA3	chr7:80802730-80803868	A549	lung:	n/a	n/a
40	RCOR1	chr7:80803042-80803706	Hela-S3	cervix:	n/a	n/a
41	TCF7L2	chr7:80802895-80803697	PANC-1	pancreas:	n/a	n/a
42	NFIC	chr7:80802860-80803794	ECC-1	luminal epithelium:	n/a	n/a
43	SP1	chr7:80802854-80803820	A549	lung:	n/a	n/a
44	POLR2A	chr7:80802931-80803677	PANC-1	pancreas:	n/a	n/a
45	EP300	chr7:80802923-80803715	Hela-S3	cervix:	n/a	chr7:80803463-80803473
46	STAT3	chr7:80803480-80803765	MCF10A-Er-Src	breast:	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	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs327665	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs327674	0.93[EUR][1000 genomes]
rs327679	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327680	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327684	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs327688	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327689	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327694	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327698	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4524735	0.91[EUR][1000 genomes]
rs477191	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs567272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[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:28 , 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	chr7:80802800-80804600	Enhancers	HSMMtube	muscle
3	chr7:80803000-80803800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:80803000-80803800	Flanking Active TSS	NH-A	brain
5	chr7:80803000-80804000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:80803000-80805200	Enhancers	HSMM	muscle
7	chr7:80803000-80805600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:80803000-80805600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:80803000-80805600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:80803200-80803800	Flanking Active TSS	A549	lung
11	chr7:80803400-80804000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:80803400-80804600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:80803400-80804600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:80803400-80804600	Weak transcription	NHLF	lung
15	chr7:80803400-80805000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:80803600-80803800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:80803600-80803800	Enhancers	Osteobl	bone
18	chr7:80803600-80804200	Enhancers	Hela-S3	cervix
19	chr7:80803600-80804600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:80803600-80804600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:80803600-80804600	Weak transcription	Fetal Brain Male	brain
22	chr7:80803600-80804800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:80803600-80804800	Weak transcription	Fetal Brain Female	brain
24	chr7:80803600-80804800	Weak transcription	HMEC	breast
25	chr7:80803600-80805000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:80803600-80805200	Weak transcription	Stomach Mucosa	stomach
27	chr7:80803600-80805400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:80803600-80810600	Weak transcription	HepG2	liver

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