Variant report

Variant	rs4734381
Chromosome Location	chr8:98990783-98990784
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:98969704..98971901-chr8:98988416..98991010,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10090458	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11994638	0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12375372	1.00[AFR][1000 genomes];0.90[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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675146	0.84[EUR][1000 genomes]
rs12675608	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12676252	0.89[JPT][hapmap]
rs12680911	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1378121	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[AFR][1000 genomes];0.90[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];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896429	0.83[EUR][1000 genomes]
rs16896467	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16896468	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16896471	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16896476	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16896503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896514	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16896518	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896521	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[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];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896564	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16896600	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1869607	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]
rs1961270	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2010014	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2045805	1.00[AFR][1000 genomes]
rs2045807	1.00[AFR][1000 genomes]
rs2061053	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2290473	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2513844	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs34354078	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35407519	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4735516	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735519	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59704264	1.00[AFR][1000 genomes]
rs60346298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60580631	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6980810	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6988458	1.00[AFR][1000 genomes]
rs7010226	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7018411	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72677062	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72677068	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72677085	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72677098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678728	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72678733	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72678734	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72678737	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72678752	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72678755	1.00[AFR][1000 genomes]
rs72678761	1.00[AFR][1000 genomes]
rs72678762	1.00[AFR][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];0.89[JPT][hapmap];0.90[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
rs4734381	C8orf47	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 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	chr8:98974400-98991200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:98976200-98996200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:98980000-98991600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:98980200-98994800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:98981000-98991200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:98982800-98994000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:98983000-98994000	Weak transcription	Left Ventricle	heart
10	chr8:98983800-98990800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:98985600-98991000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:98985600-98991000	Weak transcription	NHDF-Ad	bronchial
13	chr8:98985600-98991200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:98985600-98991200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:98985600-98992000	Weak transcription	Fetal Stomach	stomach
16	chr8:98985600-98992200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:98985600-98993600	Weak transcription	Brain Angular Gyrus	brain
18	chr8:98985600-98993600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:98985600-98993800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:98985600-98995800	Weak transcription	A549	lung
21	chr8:98986000-98991400	Weak transcription	Adipose Nuclei	Adipose
22	chr8:98986000-98993800	Weak transcription	Brain Substantia Nigra	brain
23	chr8:98986000-98997400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:98986200-98991000	Weak transcription	Osteobl	bone
25	chr8:98987000-98992800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:98987400-98998400	Weak transcription	Pancreas	Pancrea
27	chr8:98988000-99011800	Weak transcription	Aorta	Aorta
28	chr8:98988600-98991000	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:98989200-98997200	Weak transcription	Liver	Liver
30	chr8:98990200-98993600	Weak transcription	Ovary	ovary
31	chr8:98990400-98994000	Weak transcription	Fetal Intestine Large	intestine
32	chr8:98990600-98992600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr8:98990600-98997200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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