Variant report

Variant	rs6973084
Chromosome Location	chr7:112206747-112206748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112204602..112207127-chr7:112213169..112215760,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11768435	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11769472	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11770458	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11770706	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11771324	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1922901	0.87[EUR][1000 genomes]
rs2188548	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28653710	0.86[EUR][1000 genomes]
rs34571206	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4478510	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62473830	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62476688	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6946196	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6947690	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs728461	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs765506	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs765507	0.88[ASN][1000 genomes]
rs7802889	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv889055	chr7:112174089-112353440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112205600-112207800	Enhancers	Fetal Heart	heart
2	chr7:112205800-112206800	Enhancers	Fetal Brain Female	brain
3	chr7:112206200-112207400	Enhancers	Fetal Brain Male	brain
4	chr7:112206200-112207800	Enhancers	Brain Germinal Matrix	brain
5	chr7:112206400-112206800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:112206400-112206800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr7:112206400-112207000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr7:112206400-112207000	Active TSS	Brain Anterior Caudate	brain
9	chr7:112206400-112207200	Enhancers	Fetal Intestine Large	intestine
10	chr7:112206400-112207200	Enhancers	Fetal Intestine Small	intestine
11	chr7:112206400-112207200	Active TSS	Fetal Lung	lung
12	chr7:112206400-112207400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:112206400-112207400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:112206400-112207400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr7:112206400-112207400	Active TSS	Osteobl	bone
16	chr7:112206400-112207600	Enhancers	Colon Smooth Muscle	Colon
17	chr7:112206400-112207800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:112206400-112207800	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr7:112206600-112206800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:112206600-112207000	Active TSS	Brain Cingulate Gyrus	brain
21	chr7:112206600-112207000	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr7:112206600-112207200	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr7:112206600-112207400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:112206600-112207400	Active TSS	Psoas Muscle	Psoas
25	chr7:112206600-112207800	Enhancers	Small Intestine	intestine

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