Variant report

Variant	rs34269514
Chromosome Location	chr7:120787424-120787425
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr7:120787305-120787781	PBDEFetal	blood:	n/a	n/a
2	POLR2A	chr7:120786138-120788735	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:120778481..120780848-chr7:120786003..120787680,2	K562	blood:
2	chr7:120658347..120660022-chr7:120787197..120789297,2	K562	blood:
3	chr7:120778509..120781370-chr7:120785067..120788347,3	K562	blood:

Variant related genes	Relation type
CPED1	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10228942	1.00[ASN][1000 genomes]
rs1024743	0.87[EUR][1000 genomes]
rs10248019	1.00[ASN][1000 genomes]
rs11979342	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981613	0.95[EUR][1000 genomes]
rs11983939	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13221538	0.89[ASN][1000 genomes]
rs13233295	0.92[EUR][1000 genomes]
rs13235373	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238167	1.00[ASN][1000 genomes]
rs1404267	0.93[EUR][1000 genomes]
rs17143194	0.93[EUR][1000 genomes]
rs17283542	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160013	0.87[EUR][1000 genomes]
rs2402561	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28562415	1.00[ASN][1000 genomes]
rs2908572	0.84[EUR][1000 genomes]
rs2908574	0.85[EUR][1000 genomes]
rs2968344	0.87[EUR][1000 genomes]
rs34143330	0.92[EUR][1000 genomes]
rs34362455	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34385410	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34638154	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35370706	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35411566	0.93[EUR][1000 genomes]
rs35682088	1.00[ASN][1000 genomes]
rs4144090	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4593468	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976513	0.88[EUR][1000 genomes]
rs73433974	1.00[ASN][1000 genomes]
rs73433997	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73436037	0.93[EUR][1000 genomes]
rs759157	0.88[EUR][1000 genomes]
rs7790569	0.88[EUR][1000 genomes]
rs798932	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs798938	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs798939	0.87[EUR][1000 genomes]
rs798940	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs798942	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs798944	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs798945	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs798947	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs798948	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs798950	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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
16	nsv889121	chr7:120747228-120869464	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv427802	chr7:120749159-120935856	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 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	chr7:120742000-120810000	Weak transcription	Psoas Muscle	Psoas
3	chr7:120752200-120792000	Weak transcription	Aorta	Aorta
4	chr7:120763000-120791600	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:120767200-120787600	Strong transcription	HSMM	muscle
6	chr7:120776200-120789600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:120778600-120792000	Weak transcription	Fetal Stomach	stomach
8	chr7:120778600-120794600	Strong transcription	K562	blood
9	chr7:120781200-120792000	Weak transcription	Fetal Kidney	kidney
10	chr7:120782200-120791800	Weak transcription	NHLF	lung
11	chr7:120782400-120789000	Weak transcription	Ovary	ovary
12	chr7:120782600-120791600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:120782600-120791800	Weak transcription	NHDF-Ad	bronchial
14	chr7:120782800-120789000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:120782800-120822400	Weak transcription	HSMMtube	muscle
16	chr7:120783000-120789200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:120783000-120791800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:120783000-120817000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:120783200-120789000	Weak transcription	Left Ventricle	heart
20	chr7:120783200-120822400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:120783600-120791800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr7:120784600-120789200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:120784800-120789000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:120784800-120795800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:120785000-120788800	Weak transcription	Liver	Liver
26	chr7:120785000-120789000	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links