Variant report

Variant	rs6966414
Chromosome Location	chr7:120823026-120823027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120814118..120818051-chr7:120821660..120824436,5	K562	blood:
2	chr7:120821041..120822740-chr7:120822872..120826535,3	K562	blood:
3	chr7:120821316..120823107-chr7:121035788..121037547,2	K562	blood:

Variant related genes	Relation type
ENSG00000196937	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs59128753	1.00[AMR][1000 genomes]
rs60117506	1.00[AMR][1000 genomes]
rs61647996	1.00[AMR][1000 genomes]
rs73431878	1.00[AMR][1000 genomes]
rs73433920	1.00[AMR][1000 genomes]
rs73433992	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73436022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73436075	1.00[AMR][1000 genomes]
rs73436086	1.00[AMR][1000 genomes]
rs73440267	1.00[AMR][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:22 , 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	chr7:120804600-120825800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:120817000-120825200	Enhancers	Primary B cells from peripheral blood	blood
5	chr7:120819200-120861000	Strong transcription	K562	blood
6	chr7:120819400-120831600	Weak transcription	Psoas Muscle	Psoas
7	chr7:120821000-120825000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:120821200-120826000	Enhancers	Primary B cells from cord blood	blood
9	chr7:120822000-120827000	Weak transcription	GM12878-XiMat	blood
10	chr7:120822400-120823400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:120822400-120823400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:120822400-120823400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:120822400-120823400	Enhancers	NHDF-Ad	bronchial
14	chr7:120822600-120823400	Enhancers	Aorta	Aorta
15	chr7:120822600-120823600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:120822600-120823600	Enhancers	NHLF	lung
17	chr7:120822800-120823200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:120822800-120823200	Enhancers	Fetal Lung	lung
19	chr7:120823000-120826800	Weak transcription	Ovary	ovary
20	chr7:120823000-120827000	Weak transcription	HSMM	muscle
21	chr7:120823000-120827400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:120823000-120832200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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