Variant report

Variant	rs12706322
Chromosome Location	chr7:120839167-120839168
allele	A/G
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	POLR2A	chr7:120838975-120839321	K562	blood:	n/a	n/a
2	POLR2A	chr7:120838351-120839411	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120832993..120835198-chr7:120838379..120841275,3	K562	blood:
2	chr7:120836253..120841319-chr7:120841811..120848062,9	K562	blood:

Variant related genes	Relation type
RNU6-517P	TF binding region
ENSG00000207090	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1024743	1.00[CEU][hapmap]
rs11981613	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs13228215	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13229354	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13229558	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13233295	1.00[CEU][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs13235373	1.00[CEU][hapmap]
rs13238393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357757	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1404267	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]
rs17143194	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]
rs17283542	1.00[CEU][hapmap]
rs2160013	0.92[CEU][hapmap]
rs2402561	1.00[CEU][hapmap]
rs34143330	0.81[EUR][1000 genomes]
rs35411566	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4144090	1.00[CEU][hapmap]
rs66520565	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6976513	0.84[CEU][hapmap]
rs73436037	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs759157	0.83[CEU][hapmap]
rs7790569	0.83[CEU][hapmap]
rs798932	0.92[CEU][hapmap]
rs798938	0.92[CEU][hapmap]
rs798939	0.92[CEU][hapmap]
rs798940	1.00[CEU][hapmap]
rs798947	1.00[CEU][hapmap]

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	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
14	nsv1015979	chr7:120836198-120881658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv539101	chr7:120836198-120881658	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120819200-120861000	Strong transcription	K562	blood
2	chr7:120823600-120874800	Weak transcription	NHLF	lung
3	chr7:120833600-120846200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:120835600-120839400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr7:120836200-120851400	Weak transcription	Ovary	ovary
6	chr7:120836400-120844600	Weak transcription	HSMMtube	muscle
7	chr7:120836400-120851400	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:120836400-120851600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:120836400-120851600	Weak transcription	Right Ventricle	heart
10	chr7:120836400-120851600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:120836600-120841400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:120836600-120842200	Weak transcription	Aorta	Aorta
13	chr7:120836600-120851400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:120836800-120858200	Weak transcription	Adipose Nuclei	Adipose
15	chr7:120837200-120839600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr7:120837800-120843600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:120838400-120839200	Strong transcription	HSMM	muscle
18	chr7:120838400-120843400	Enhancers	Primary B cells from peripheral blood	blood
19	chr7:120838600-120839200	Enhancers	Primary B cells from cord blood	blood
20	chr7:120838600-120843600	Weak transcription	Left Ventricle	heart
21	chr7:120838600-120843600	Weak transcription	Psoas Muscle	Psoas
22	chr7:120839000-120839200	Flanking Active TSS	Fetal Heart	heart

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