Variant report

Variant	rs2908574
Chromosome Location	chr7:120727232-120727233
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr7:120726655-120727341	K562	blood:	n/a	n/a
2	POLR2A	chr7:120717974-120727688	K562	blood:	n/a	n/a
3	POLR2A	chr7:120716166-120738240	K562	blood:	n/a	n/a
4	POLR2A	chr7:120726455-120727416	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:120674115..120676104-chr7:120725405..120727477,2	K562	blood:
2	chr7:120692726..120696134-chr7:120727225..120730666,4	K562	blood:
3	chr7:120693342..120696134-chr7:120727225..120728840,2	K562	blood:
4	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:

No data

Variant related genes	Relation type
RNA5SP241	TF binding region
ENSG00000202225	Chromatin interaction
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1024743	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10268570	0.95[ASN][1000 genomes]
rs11979342	0.80[EUR][1000 genomes]
rs11981613	0.81[EUR][1000 genomes]
rs11983939	0.84[EUR][1000 genomes]
rs13235373	0.85[EUR][1000 genomes]
rs17283542	0.85[EUR][1000 genomes]
rs2160013	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2192289	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2215788	0.87[ASN][1000 genomes]
rs2402554	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2402556	0.95[ASN][1000 genomes]
rs2402561	0.83[EUR][1000 genomes]
rs2538491	0.95[ASN][1000 genomes]
rs2538492	0.95[ASN][1000 genomes]
rs2721349	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2721374	0.95[ASN][1000 genomes]
rs2721375	0.95[ASN][1000 genomes]
rs2908572	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2968344	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34269514	0.85[EUR][1000 genomes]
rs34362455	0.85[EUR][1000 genomes]
rs34385410	0.85[EUR][1000 genomes]
rs34638154	0.85[EUR][1000 genomes]
rs35370706	0.84[EUR][1000 genomes]
rs4140913	0.95[ASN][1000 genomes]
rs4144090	0.83[EUR][1000 genomes]
rs4593468	0.83[EUR][1000 genomes]
rs6956851	0.95[ASN][1000 genomes]
rs6962260	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6970001	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6976513	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73433997	0.84[EUR][1000 genomes]
rs759157	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7790569	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7806509	0.82[AMR][1000 genomes]
rs798932	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs798937	0.91[ASN][1000 genomes]
rs798938	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs798939	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs798940	0.93[EUR][1000 genomes]
rs798942	0.84[EUR][1000 genomes]
rs798944	0.91[EUR][1000 genomes]
rs798945	0.85[EUR][1000 genomes]
rs798947	0.91[EUR][1000 genomes]
rs798948	0.91[EUR][1000 genomes]
rs9641653	0.95[ASN][1000 genomes]
rs9690141	0.95[ASN][1000 genomes]
rs9690143	0.95[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120711400-120790600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:120722800-120727400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:120724000-120731200	Genic enhancers	K562	blood
4	chr7:120724400-120728200	Enhancers	Adipose Nuclei	Adipose
5	chr7:120724400-120739800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:120725400-120727600	Enhancers	Osteobl	bone
7	chr7:120725400-120728600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:120725400-120735000	Weak transcription	Right Ventricle	heart
9	chr7:120725400-120739600	Weak transcription	Left Ventricle	heart
10	chr7:120725600-120727400	Genic enhancers	HSMM	muscle
11	chr7:120725600-120736800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:120725800-120727400	Enhancers	HSMMtube	muscle
13	chr7:120725800-120727800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:120725800-120727800	Enhancers	NHLF	lung
15	chr7:120725800-120729200	Enhancers	NHDF-Ad	bronchial
16	chr7:120725800-120744400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:120725800-120761800	Weak transcription	Fetal Stomach	stomach
18	chr7:120726200-120730200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:120726800-120727600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:120726800-120728000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr7:120727000-120727600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:120727000-120729000	Weak transcription	HMEC	breast
23	chr7:120727000-120732000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:120727000-120734600	Weak transcription	Fetal Heart	heart
25	chr7:120727000-120737400	Weak transcription	Liver	Liver
26	chr7:120727200-120728400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:120727200-120730800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:120727200-120732000	Weak transcription	Ovary	ovary
29	chr7:120727200-120732000	Weak transcription	Psoas Muscle	Psoas
30	chr7:120727200-120735000	Weak transcription	Aorta	Aorta
31	chr7:120727200-120739800	Weak transcription	Stomach Smooth Muscle	stomach

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