Variant report

Variant	rs4735519
Chromosome Location	chr8:98993493-98993494
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:98985735..98990217-chr8:98991050..98995817,5	K562	blood:
2	chr8:98991788..98993846-chr8:99008923..99010508,2	MCF-7	breast:
3	chr8:98992573..98995424-chr8:98996000..98998679,2	MCF-7	breast:
4	chr8:98786769..98788995-chr8:98993109..98995354,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104341	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10090458	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11994638	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12375372	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12674810	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675146	0.83[EUR][1000 genomes]
rs12675608	0.83[EUR][1000 genomes]
rs12680911	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1378121	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16892217	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896429	0.82[EUR][1000 genomes]
rs16896467	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16896468	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16896471	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16896476	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16896503	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896514	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16896518	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896521	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16896531	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896564	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16896600	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1869607	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961270	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2010014	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2061053	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2290473	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2513844	0.83[EUR][1000 genomes]
rs34354078	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35407519	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4734381	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735516	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60346298	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60580631	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6980810	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7010226	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7018411	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72677062	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72677068	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72677085	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72677098	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678728	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72678733	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72678734	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72678737	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72678752	0.81[AMR][1000 genomes]
rs72678761	0.80[EUR][1000 genomes]
rs7830701	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7843262	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv528695	chr8:98960813-99022009	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4735519	C8orf47	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98968200-98993800	Weak transcription	Esophagus	oesophagus
2	chr8:98976200-98996200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:98980200-98994800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:98982800-98994000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:98983000-98994000	Weak transcription	Left Ventricle	heart
6	chr8:98985600-98993600	Weak transcription	Brain Angular Gyrus	brain
7	chr8:98985600-98993600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:98985600-98993800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:98985600-98995800	Weak transcription	A549	lung
10	chr8:98986000-98993800	Weak transcription	Brain Substantia Nigra	brain
11	chr8:98986000-98997400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:98987400-98998400	Weak transcription	Pancreas	Pancrea
13	chr8:98988000-99011800	Weak transcription	Aorta	Aorta
14	chr8:98989200-98997200	Weak transcription	Liver	Liver
15	chr8:98990200-98993600	Weak transcription	Ovary	ovary
16	chr8:98990400-98994000	Weak transcription	Fetal Intestine Large	intestine
17	chr8:98990600-98997200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:98990800-98993800	Weak transcription	Gastric	stomach
19	chr8:98990800-98997000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:98991000-98994000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:98991000-98994200	Enhancers	NHDF-Ad	bronchial
22	chr8:98991000-98997800	Enhancers	Osteobl	bone
23	chr8:98991200-98994200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:98991200-98994600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:98991400-98994400	Enhancers	NH-A	brain
26	chr8:98991400-98994600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:98991600-98994000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:98991600-98994400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:98991600-98994400	Enhancers	HSMM	muscle
30	chr8:98992000-98993600	Strong transcription	Fetal Stomach	stomach
31	chr8:98992200-98993800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:98992200-98994600	Enhancers	Brain Hippocampus Middle	brain
33	chr8:98992200-98996400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:98992200-98998200	Enhancers	NHLF	lung
35	chr8:98992400-98994000	Weak transcription	Adipose Nuclei	Adipose
36	chr8:98992400-98994200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:98992600-98993600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:98992600-98995800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:98992600-98996000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:98992600-98996000	Weak transcription	HMEC	breast
41	chr8:98992600-99019400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr8:98992800-98996400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:98992800-98996600	Weak transcription	NHEK	skin
44	chr8:98993000-98994000	Enhancers	Hela-S3	cervix
45	chr8:98993200-98994600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:98993200-98994600	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr8:98993400-98993800	Weak transcription	Placenta	Placenta
48	chr8:98993400-98994000	Genic enhancers	Fetal Muscle Leg	muscle
49	chr8:98993400-98994000	Enhancers	HSMMtube	muscle
50	chr8:98993400-98994200	Strong transcription	Duodenum Mucosa	Duodenum

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