Variant report

Variant	rs11976117
Chromosome Location	chr7:120673042-120673043
allele	C/G
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:
2	chr7:120672832..120675246-chr7:120709384..120712309,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10245811	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]
rs10277935	0.82[CHB][hapmap]
rs10953923	0.82[CHB][hapmap]
rs12666371	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12671499	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16870531	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1981711	0.82[CHB][hapmap]
rs2058501	0.82[CHB][hapmap]
rs41696	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41699	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41700	0.90[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41701	0.90[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41705	0.94[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4730984	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62470917	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6944789	0.82[CHB][hapmap]
rs6949989	0.82[CHB][hapmap]
rs7782014	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7802570	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7802665	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120666600-120683600	Weak transcription	Liver	Liver
2	chr7:120668600-120673200	Weak transcription	Right Ventricle	heart
3	chr7:120668600-120678200	Weak transcription	Psoas Muscle	Psoas
4	chr7:120669000-120678800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr7:120670400-120681600	Weak transcription	HSMM	muscle
6	chr7:120672400-120673600	Enhancers	Fetal Heart	heart
7	chr7:120672600-120673200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:120672600-120673200	Enhancers	Left Ventricle	heart
9	chr7:120672800-120673200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:120672800-120673200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:120672800-120673200	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr7:120672800-120673200	Enhancers	Fetal Stomach	stomach
13	chr7:120672800-120673200	Enhancers	Stomach Smooth Muscle	stomach
14	chr7:120672800-120673200	Enhancers	NHEK	skin
15	chr7:120672800-120673200	Enhancers	NHLF	lung
16	chr7:120672800-120673400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:120672800-120673400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr7:120672800-120673400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:120672800-120673400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:120672800-120673400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
21	chr7:120672800-120673400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr7:120672800-120673400	Enhancers	NHDF-Ad	bronchial
23	chr7:120672800-120673400	Enhancers	Osteobl	bone
24	chr7:120672800-120673600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:120672800-120673600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr7:120672800-120673600	Enhancers	Adipose Nuclei	Adipose
27	chr7:120672800-120673600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:120672800-120673600	Transcr. at gene 5' and 3'	K562	blood
29	chr7:120672800-120673800	Enhancers	Fetal Lung	lung
30	chr7:120672800-120673800	Enhancers	Rectal Smooth Muscle	rectum
31	chr7:120672800-120674000	Enhancers	Hela-S3	cervix
32	chr7:120673000-120673200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:120673000-120673200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:120673000-120673200	Enhancers	Colon Smooth Muscle	Colon
35	chr7:120673000-120673400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:120673000-120673400	Enhancers	Ovary	ovary
37	chr7:120673000-120673400	Enhancers	Right Atrium	heart
38	chr7:120673000-120673400	Enhancers	Small Intestine	intestine
39	chr7:120673000-120673400	Enhancers	HMEC	breast
40	chr7:120673000-120673400	Enhancers	HSMMtube	muscle
41	chr7:120673000-120673600	Enhancers	Fetal Kidney	kidney

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