Variant report

Variant	rs10245811
Chromosome Location	chr7:120672573-120672574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120670213..120673148-chr7:120677345..120680325,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10277935	0.90[CHB][hapmap]
rs10953923	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs1118142	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs11976117	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12666371	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12671499	0.86[EUR][1000 genomes]
rs12706305	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs12706306	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs16870531	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17535702	0.80[ASN][1000 genomes]
rs1981711	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs2058501	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs41696	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41699	0.87[EUR][1000 genomes]
rs41700	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs41701	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41705	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4730984	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62470917	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6944789	0.90[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs6949989	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs6958635	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs7782014	0.94[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7782552	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs7802570	0.90[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7802665	0.94[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120664600-120672800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:120665200-120672800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr7:120666600-120672800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:120666600-120673000	Weak transcription	Small Intestine	intestine
5	chr7:120666600-120683600	Weak transcription	Liver	Liver
6	chr7:120667200-120672600	Weak transcription	Left Ventricle	heart
7	chr7:120668600-120672800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:120668600-120673000	Weak transcription	Fetal Kidney	kidney
9	chr7:120668600-120673000	Weak transcription	Ovary	ovary
10	chr7:120668600-120673000	Weak transcription	Right Atrium	heart
11	chr7:120668600-120673200	Weak transcription	Right Ventricle	heart
12	chr7:120668600-120678200	Weak transcription	Psoas Muscle	Psoas
13	chr7:120668800-120672800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:120668800-120672800	Weak transcription	Fetal Lung	lung
15	chr7:120668800-120672800	Weak transcription	Fetal Stomach	stomach
16	chr7:120668800-120672800	Weak transcription	Osteobl	bone
17	chr7:120668800-120673000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:120668800-120673000	Weak transcription	HSMMtube	muscle
19	chr7:120669000-120672800	Weak transcription	NHDF-Ad	bronchial
20	chr7:120669000-120673000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:120669000-120678800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:120669600-120672600	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:120669800-120672800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:120670200-120672800	Weak transcription	Adipose Nuclei	Adipose
25	chr7:120670400-120672800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:120670400-120681600	Weak transcription	HSMM	muscle
27	chr7:120670600-120672800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:120670600-120672800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:120670600-120672800	Genic enhancers	K562	blood
30	chr7:120670600-120672800	Weak transcription	NHLF	lung
31	chr7:120670600-120673000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:120672400-120673600	Enhancers	Fetal Heart	heart

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