Variant report

Variant	rs62535383
Chromosome Location	chr8:99614978-99614979
allele	C/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	MAFK	chr8:99614959-99615011	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F4	chr8:99614842-99615000	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000253911	TF binding region
STK3	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10447977	0.81[AMR][1000 genomes]
rs10755896	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10755897	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10955186	0.96[ASN][1000 genomes]
rs10955187	0.96[ASN][1000 genomes]
rs10955188	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955189	0.80[AMR][1000 genomes]
rs11774463	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11775055	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11780292	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11780369	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12542069	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12542649	0.80[EUR][1000 genomes]
rs12542758	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12547297	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12549803	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12550783	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12679268	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12680195	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12680490	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12680602	0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13258214	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13269932	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13271844	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34114299	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34281206	0.81[AMR][1000 genomes]
rs34477118	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34855977	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35447893	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35536167	0.81[AMR][1000 genomes]
rs4442112	0.89[ASN][1000 genomes]
rs4509292	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4612309	0.81[EUR][1000 genomes]
rs4734410	0.86[AMR][1000 genomes]
rs4735568	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4735569	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4735570	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4735574	0.80[AMR][1000 genomes]
rs57034072	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62535381	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62535382	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62535404	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62535408	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62535410	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62535412	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6651182	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67186645	0.88[ASN][1000 genomes]
rs6992925	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7016626	0.84[ASN][1000 genomes]
rs7818010	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9656842	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][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	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv891219	chr8:99526819-99643487	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr8:99588000-99616000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:99588200-99615200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:99601400-99616000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:99602800-99615000	Weak transcription	Adipose Nuclei	Adipose
5	chr8:99602800-99622800	Weak transcription	Esophagus	oesophagus
6	chr8:99603000-99616000	Weak transcription	Fetal Stomach	stomach
7	chr8:99603000-99635600	Weak transcription	Lung	lung
8	chr8:99606600-99615800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:99606800-99616200	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:99606800-99635800	Weak transcription	Aorta	Aorta
11	chr8:99606800-99637400	Weak transcription	Ovary	ovary
12	chr8:99608400-99616600	Weak transcription	Liver	Liver
13	chr8:99610400-99615600	Enhancers	HMEC	breast
14	chr8:99611000-99616200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:99611800-99639800	Weak transcription	Small Intestine	intestine
16	chr8:99612600-99618600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:99613000-99615600	Weak transcription	Fetal Intestine Large	intestine
18	chr8:99613200-99615400	Enhancers	GM12878-XiMat	blood
19	chr8:99614200-99615000	Weak transcription	Osteobl	bone
20	chr8:99614200-99615200	Enhancers	A549	lung
21	chr8:99614200-99616600	Weak transcription	K562	blood
22	chr8:99614400-99615200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:99614400-99624800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:99614800-99615600	Enhancers	NHEK	skin
25	chr8:99614800-99635600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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