Variant report

Variant	rs17143194
Chromosome Location	chr7:120825942-120825943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120814957..120817520-chr7:120824597..120827658,3	K562	blood:
2	chr7:120815326..120817520-chr7:120824597..120827177,2	K562	blood:
3	chr7:120817633..120820415-chr7:120824937..120827209,2	K562	blood:
4	chr7:120821041..120822740-chr7:120822872..120826535,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1024743	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11979342	0.93[EUR][1000 genomes]
rs11981613	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs11983939	0.95[EUR][1000 genomes]
rs12706322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13228215	0.82[EUR][1000 genomes]
rs13229354	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13229558	0.82[EUR][1000 genomes]
rs13233295	1.00[CEU][hapmap];0.88[JPT][hapmap];0.99[EUR][1000 genomes]
rs13235373	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs13238393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1357757	0.82[EUR][1000 genomes]
rs1404267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17283542	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2160013	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs2402561	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2968344	0.81[EUR][1000 genomes]
rs34143330	0.99[EUR][1000 genomes]
rs34269514	0.93[EUR][1000 genomes]
rs34362455	0.93[EUR][1000 genomes]
rs34385410	0.93[EUR][1000 genomes]
rs34638154	0.93[EUR][1000 genomes]
rs35370706	0.92[EUR][1000 genomes]
rs35411566	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4144090	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4593468	0.96[EUR][1000 genomes]
rs66520565	0.82[EUR][1000 genomes]
rs6976513	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs73433997	0.95[EUR][1000 genomes]
rs73436037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759157	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs7790569	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs798932	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs798938	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs798939	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs798940	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs798942	0.81[EUR][1000 genomes]
rs798944	0.88[EUR][1000 genomes]
rs798945	0.82[EUR][1000 genomes]
rs798947	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs798948	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120789800-120828800	Weak transcription	Left Ventricle	heart
2	chr7:120798600-120836000	Weak transcription	Adipose Nuclei	Adipose
3	chr7:120819200-120861000	Strong transcription	K562	blood
4	chr7:120819400-120831600	Weak transcription	Psoas Muscle	Psoas
5	chr7:120821200-120826000	Enhancers	Primary B cells from cord blood	blood
6	chr7:120822000-120827000	Weak transcription	GM12878-XiMat	blood
7	chr7:120823000-120826800	Weak transcription	Ovary	ovary
8	chr7:120823000-120827000	Weak transcription	HSMM	muscle
9	chr7:120823000-120827400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:120823000-120832200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:120823200-120827400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:120823400-120827200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:120823400-120835800	Weak transcription	Aorta	Aorta
14	chr7:120823600-120827000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:120823600-120874800	Weak transcription	NHLF	lung
16	chr7:120825200-120827000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr7:120825600-120826000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:120825800-120826000	Enhancers	Sigmoid Colon	Sigmoid Colon

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