Variant report

Variant	rs13246689
Chromosome Location	chr7:120712996-120712997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr7:120712920-120713189	K562	blood:	n/a	n/a
2	MAX	chr7:120712966-120713166	HepG2	liver:	n/a	n/a
3	JUN	chr7:120712929-120713184	K562	blood:	n/a	n/a
4	MAX	chr7:120712850-120713311	HepG2	liver:	n/a	n/a
5	MAZ	chr7:120712767-120713110	K562	blood:	n/a	n/a
6	HNF4A	chr7:120712907-120713220	HepG2	liver:	n/a	n/a
7	BHLHE40	chr7:120712925-120713118	K562	blood:	n/a	n/a
8	HNF4G	chr7:120712887-120713229	HepG2	liver:	n/a	chr7:120713057-120713072
9	CEBPB	chr7:120712919-120713210	HepG2	liver:	n/a	n/a
10	HNF4A	chr7:120712939-120713162	HepG2	liver:	n/a	n/a
11	MAX	chr7:120712897-120713193	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:120652112..120653722-chr7:120711850..120714681,2	K562	blood:
2	chr7:120693988..120695530-chr7:120712060..120713807,2	K562	blood:
3	chr7:120685095..120691151-chr7:120712234..120720635,10	K562	blood:
4	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:
5	chr7:120588429..120592994-chr7:120712560..120717211,6	K562	blood:
6	chr7:120711582..120714500-chr7:120752923..120755177,2	K562	blood:

No data

Variant related genes	Relation type
CPED1	TF binding region
ENSG00000234927	Chromatin interaction
ENSG00000071243	Chromatin interaction
ENSG00000106034	Chromatin interaction
ENSG00000202225	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10251692	0.83[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs10255706	0.83[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs10261386	0.81[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs10271436	0.86[ASN][1000 genomes]
rs10275526	0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs10953924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11977285	0.83[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs12176609	0.81[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12666340	0.81[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs12666345	0.83[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs12670604	0.85[ASN][1000 genomes]
rs12670664	0.86[ASN][1000 genomes]
rs12672958	0.83[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs12706311	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2110280	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2192290	0.86[ASN][1000 genomes]
rs2192291	0.83[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs2402555	0.83[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2896300	0.97[ASN][1000 genomes]
rs55748177	0.85[ASN][1000 genomes]
rs56351875	0.86[ASN][1000 genomes]
rs60050503	0.86[ASN][1000 genomes]
rs6466766	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6962509	0.83[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs7786867	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv889118	chr7:120683751-120800837	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv889119	chr7:120688463-120800837	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv889120	chr7:120691417-120800837	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr7:120682400-120719600	Weak transcription	Fetal Lung	lung
2	chr7:120692800-120719000	Weak transcription	Left Ventricle	heart
3	chr7:120704200-120716200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:120706800-120718200	Weak transcription	Psoas Muscle	Psoas
5	chr7:120707200-120716600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:120708200-120725200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:120709600-120714000	Weak transcription	NHDF-Ad	bronchial
8	chr7:120709600-120718600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:120709600-120718800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:120709800-120716000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:120709800-120716000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:120709800-120716200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:120709800-120716200	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:120710000-120713600	Weak transcription	Adipose Nuclei	Adipose
15	chr7:120710000-120716000	Weak transcription	NHLF	lung
16	chr7:120710000-120721200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:120710200-120713800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:120710200-120716000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:120710200-120716400	Weak transcription	HSMMtube	muscle
20	chr7:120710600-120713200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:120710600-120718600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:120711400-120713600	Weak transcription	Ovary	ovary
23	chr7:120711400-120790600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:120711600-120713000	Weak transcription	HSMM	muscle
25	chr7:120711600-120713200	Transcr. at gene 5' and 3'	K562	blood
26	chr7:120712000-120716200	Weak transcription	Aorta	Aorta
27	chr7:120712400-120713600	Enhancers	HepG2	liver
28	chr7:120712400-120715000	Enhancers	Liver	Liver

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