Variant report

Variant	rs7777539
Chromosome Location	chr7:47856825-47856826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10245949	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12670579	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13237611	0.80[AMR][1000 genomes]
rs17710832	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1980279	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2123608	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2177164	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3757379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3800568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4543454	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6463451	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6947216	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6960513	0.81[AMR][1000 genomes]
rs6968437	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7783295	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7783894	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7789224	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs876467	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47846800-47858600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:47847600-47858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:47848400-47857600	Weak transcription	HSMMtube	muscle
4	chr7:47852400-47857800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:47852800-47879000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:47853000-47858600	Weak transcription	Placenta	Placenta
7	chr7:47853400-47858800	Weak transcription	Brain Substantia Nigra	brain
8	chr7:47853400-47859800	Enhancers	A549	lung
9	chr7:47853600-47858600	Weak transcription	Fetal Intestine Large	intestine
10	chr7:47853800-47858800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:47854000-47858600	Weak transcription	Fetal Intestine Small	intestine
12	chr7:47854800-47858600	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:47855000-47858600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:47855000-47858600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:47855000-47869600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:47855000-47880200	Weak transcription	Lung	lung
17	chr7:47855200-47858600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:47855400-47858800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:47855800-47866800	Weak transcription	Left Ventricle	heart
20	chr7:47855800-47902400	Weak transcription	Adipose Nuclei	Adipose
21	chr7:47856000-47857000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr7:47856200-47859200	Weak transcription	Aorta	Aorta
23	chr7:47856400-47857800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:47856400-47857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:47856400-47858600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:47856400-47858800	Weak transcription	NHDF-Ad	bronchial
27	chr7:47856600-47857200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:47856600-47857800	Weak transcription	NHLF	lung
29	chr7:47856600-47858600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:47856600-47858600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:47856600-47858600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:47856600-47858600	Weak transcription	HepG2	liver
33	chr7:47856600-47858600	Weak transcription	HSMM	muscle
34	chr7:47856600-47858600	Weak transcription	NH-A	brain
35	chr7:47856600-47858600	Weak transcription	Osteobl	bone

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