Variant report

Variant	rs7010226
Chromosome Location	chr8:99025097-99025098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99020262..99022328-chr8:99024233..99025913,2	K562	blood:
2	chr8:99024327..99027909-chr8:99029199..99033016,4	MCF-7	breast:
3	chr8:98881503..98883125-chr8:99023785..99026314,2	MCF-7	breast:
4	chr8:98917300..98918803-chr8:99024235..99026797,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10090458	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11994638	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12375372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12674810	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12675608	1.00[AFR][1000 genomes]
rs12680911	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1378121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16892217	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16896467	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16896468	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16896471	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16896476	0.84[EUR][1000 genomes]
rs16896503	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896514	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16896518	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16896521	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16896531	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16896564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16896600	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1869607	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1961270	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2010014	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2045805	1.00[AFR][1000 genomes]
rs2045807	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2061053	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2290473	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34354078	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734381	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4735516	0.84[EUR][1000 genomes]
rs4735519	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59704264	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs60346298	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60580631	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6980810	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6988458	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7018411	0.82[EUR][1000 genomes]
rs72677062	1.00[AFR][1000 genomes]
rs72677085	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72677098	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72678728	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72678733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678752	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72678755	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72678761	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72678762	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7830701	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	esv15294	chr8:99017130-99025235	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7010226	C8orf47	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99008400-99045000	Weak transcription	Colonic Mucosa	Colon
2	chr8:99009000-99030000	Weak transcription	Pancreas	Pancrea
3	chr8:99009000-99030200	Weak transcription	Esophagus	oesophagus
4	chr8:99012000-99028800	Weak transcription	Aorta	Aorta
5	chr8:99012000-99032000	Weak transcription	Gastric	stomach
6	chr8:99012400-99028800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:99014200-99025400	Genic enhancers	Fetal Muscle Leg	muscle
8	chr8:99014200-99029600	Weak transcription	Fetal Intestine Large	intestine
9	chr8:99015000-99034400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:99017000-99025400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:99019000-99033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:99019400-99025200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:99019800-99025400	Genic enhancers	Fetal Stomach	stomach
14	chr8:99020000-99033400	Weak transcription	Left Ventricle	heart
15	chr8:99020800-99025200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:99021000-99027200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:99021000-99028600	Weak transcription	Liver	Liver
18	chr8:99021000-99032200	Weak transcription	Brain Substantia Nigra	brain
19	chr8:99021200-99032800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:99021200-99053600	Weak transcription	A549	lung
21	chr8:99021400-99026000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:99021400-99029400	Weak transcription	Brain Angular Gyrus	brain
23	chr8:99021400-99029600	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:99021400-99029800	Weak transcription	Brain Anterior Caudate	brain
25	chr8:99021400-99029800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:99021400-99033400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:99021400-99043800	Weak transcription	Brain Germinal Matrix	brain
28	chr8:99021600-99028800	Weak transcription	Adipose Nuclei	Adipose
29	chr8:99022400-99025200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:99022400-99025200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr8:99022400-99055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:99023000-99026000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:99023000-99026000	Enhancers	NHLF	lung
34	chr8:99023000-99033400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:99023200-99027600	Weak transcription	Ovary	ovary
36	chr8:99023200-99030000	Weak transcription	Fetal Intestine Small	intestine
37	chr8:99023400-99027600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:99023600-99034800	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr8:99023800-99025200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr8:99023800-99041200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:99024000-99027600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr8:99024000-99030000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:99024000-99030000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:99024000-99030200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:99024000-99032800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:99024000-99044000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:99024000-99054800	Weak transcription	Right Ventricle	heart
48	chr8:99024200-99025200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr8:99024200-99025200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:99024200-99025200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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