Variant report

Variant	rs4140913
Chromosome Location	chr7:120722943-120722944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:120684341..120686164-chr7:120720780..120722996,2	K562	blood:
2	chr7:120624020..120645873-chr7:120713358..120727138,77	K562	blood:
3	chr7:120589600..120593889-chr7:120719099..120726294,8	K562	blood:
4	chr7:120627337..120628312-chr7:120722622..120723538,2	K562	blood:
5	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:
6	chr7:120589475..120592677-chr7:120719093..120725846,11	K562	blood:
7	chr7:120692006..120694534-chr7:120721905..120723814,2	K562	blood:
8	chr7:120701678..120704158-chr7:120722578..120725881,3	K562	blood:
9	chr7:120661476..120663248-chr7:120721625..120723394,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000202225	Chromatin interaction
ENSG00000071243	Chromatin interaction
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10228942	1.00[JPT][hapmap]
rs1024743	0.91[ASN][1000 genomes]
rs10248019	1.00[JPT][hapmap]
rs10268570	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13221538	1.00[JPT][hapmap]
rs13235373	1.00[JPT][hapmap]
rs17283542	1.00[JPT][hapmap]
rs2160013	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2192289	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2215788	0.91[ASN][1000 genomes]
rs2402554	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2402556	1.00[ASN][1000 genomes]
rs2402561	1.00[JPT][hapmap]
rs2538491	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2538492	1.00[ASN][1000 genomes]
rs2721349	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2721374	1.00[ASN][1000 genomes]
rs2721375	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2908572	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2908574	0.95[ASN][1000 genomes]
rs2968344	0.95[ASN][1000 genomes]
rs4144090	1.00[JPT][hapmap]
rs6956851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962260	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6970001	1.00[ASN][1000 genomes]
rs6976513	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs759157	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7790569	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs798932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs798937	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs798938	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs798939	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs798940	1.00[JPT][hapmap]
rs798947	1.00[JPT][hapmap]
rs9641653	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9690141	1.00[ASN][1000 genomes]
rs9690143	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
15	nsv428506	chr7:120719434-120891759	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120708200-120725200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:120711400-120790600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr7:120715800-120725000	Weak transcription	Fetal Stomach	stomach
4	chr7:120716800-120723000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:120717600-120724200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:120718200-120724000	Transcr. at gene 5' and 3'	K562	blood
7	chr7:120719200-120723000	Enhancers	NHLF	lung
8	chr7:120719200-120723200	Weak transcription	Ovary	ovary
9	chr7:120719600-120723200	Weak transcription	Left Ventricle	heart
10	chr7:120719800-120723000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:120719800-120723000	Weak transcription	Hela-S3	cervix
12	chr7:120719800-120724600	Weak transcription	Fetal Heart	heart
13	chr7:120720000-120724800	Weak transcription	Aorta	Aorta
14	chr7:120720800-120723000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr7:120720800-120725000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr7:120721000-120723000	Enhancers	HSMMtube	muscle
17	chr7:120721000-120723200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:120721200-120723000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:120721200-120723000	Enhancers	Osteobl	bone
20	chr7:120721200-120723400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:120721200-120723800	Enhancers	NHDF-Ad	bronchial
22	chr7:120721200-120724400	Enhancers	HMEC	breast
23	chr7:120721400-120723600	Enhancers	NHEK	skin
24	chr7:120721600-120726200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr7:120721800-120723000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:120721800-120723000	Weak transcription	Psoas Muscle	Psoas
27	chr7:120722000-120723000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:120722000-120724400	Weak transcription	Adipose Nuclei	Adipose
29	chr7:120722000-120724600	Weak transcription	Liver	Liver
30	chr7:120722200-120723000	Enhancers	HSMM	muscle
31	chr7:120722200-120723200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:120722200-120723400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:120722800-120723200	Enhancers	NH-A	brain
34	chr7:120722800-120723600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr7:120722800-120723800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr7:120722800-120724800	Enhancers	Colon Smooth Muscle	Colon
37	chr7:120722800-120726200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:120722800-120726800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:120722800-120727400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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