Variant report

Variant	rs1869607
Chromosome Location	chr8:98991281-98991282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:98985735..98990217-chr8:98991050..98995817,5	K562	blood:

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

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

rs_ID	r²[population]
rs10090458	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11994638	0.81[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12375372	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12674810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675146	0.84[EUR][1000 genomes]
rs12675608	0.84[EUR][1000 genomes]
rs12676252	0.89[JPT][hapmap]
rs12680911	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1378121	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16892217	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896429	0.83[EUR][1000 genomes]
rs16896467	1.00[CEU][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16896468	1.00[CEU][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16896471	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16896476	1.00[CEU][hapmap];0.96[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16896503	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896514	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16896518	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896521	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16896531	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896564	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16896600	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1961270	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2010014	0.80[EUR][1000 genomes]
rs2061053	1.00[CEU][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2290473	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2513844	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs34354078	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35407519	0.89[EUR][1000 genomes]
rs4734381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735508	0.83[TSI][hapmap]
rs4735516	1.00[CEU][hapmap];0.96[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4735519	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60346298	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60580631	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6980810	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7010226	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7018411	0.97[EUR][1000 genomes]
rs72677062	0.89[EUR][1000 genomes]
rs72677068	0.89[EUR][1000 genomes]
rs72677085	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72677098	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678728	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72678733	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72678734	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72678737	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7830701	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7843262	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.84[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
rs1869607	C8orf47	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98968200-98993800	Weak transcription	Esophagus	oesophagus
2	chr8:98970000-98992200	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:98976200-98996200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:98980000-98991600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:98980200-98994800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:98982800-98994000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:98983000-98994000	Weak transcription	Left Ventricle	heart
8	chr8:98985600-98992000	Weak transcription	Fetal Stomach	stomach
9	chr8:98985600-98992200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:98985600-98993600	Weak transcription	Brain Angular Gyrus	brain
11	chr8:98985600-98993600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:98985600-98993800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:98985600-98995800	Weak transcription	A549	lung
14	chr8:98986000-98991400	Weak transcription	Adipose Nuclei	Adipose
15	chr8:98986000-98993800	Weak transcription	Brain Substantia Nigra	brain
16	chr8:98986000-98997400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:98987000-98992800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:98987400-98998400	Weak transcription	Pancreas	Pancrea
19	chr8:98988000-99011800	Weak transcription	Aorta	Aorta
20	chr8:98989200-98997200	Weak transcription	Liver	Liver
21	chr8:98990200-98993600	Weak transcription	Ovary	ovary
22	chr8:98990400-98994000	Weak transcription	Fetal Intestine Large	intestine
23	chr8:98990600-98992600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr8:98990600-98997200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:98990800-98993800	Weak transcription	Gastric	stomach
26	chr8:98990800-98997000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:98991000-98993200	Weak transcription	Placenta	Placenta
28	chr8:98991000-98993400	Strong transcription	Fetal Muscle Leg	muscle
29	chr8:98991000-98994000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:98991000-98994200	Enhancers	NHDF-Ad	bronchial
31	chr8:98991000-98997800	Enhancers	Osteobl	bone
32	chr8:98991200-98991600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:98991200-98992600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:98991200-98992600	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr8:98991200-98992800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:98991200-98993000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr8:98991200-98994200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:98991200-98994600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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