Variant report

Variant	rs12547079
Chromosome Location	chr8:117749207-117749208
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117747735..117749326-chr8:117777978..117780218,2	MCF-7	breast:
2	chr8:117745068..117749495-chr8:117750950..117754600,6	K562	blood:

Variant related genes	Relation type
ENSG00000147679	Chromatin interaction
ENSG00000147677	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10089833	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10094452	0.82[EUR][1000 genomes]
rs10108262	1.00[AFR][1000 genomes]
rs10111411	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10156225	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10808483	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11775890	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11779352	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12155774	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12375316	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12542425	0.81[AFR][1000 genomes]
rs12547108	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13257365	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13258789	0.83[EUR][1000 genomes]
rs13260809	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13264928	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28431802	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34007155	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35792844	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4129066	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4304349	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4344109	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4406425	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4637871	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4876673	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4876675	0.83[EUR][1000 genomes]
rs4876677	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4876678	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62510182	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6469659	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6995719	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6995838	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7004009	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7011256	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9792358	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117733600-117766600	Weak transcription	Fetal Lung	lung
2	chr8:117733600-117766800	Weak transcription	Adipose Nuclei	Adipose
3	chr8:117734200-117752400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:117734400-117762000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:117734400-117766800	Weak transcription	Fetal Stomach	stomach
6	chr8:117734600-117766200	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:117734600-117766400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:117734600-117766800	Weak transcription	Fetal Intestine Small	intestine
9	chr8:117734600-117767200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:117734800-117766200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:117735000-117766000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:117735000-117766200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:117736600-117751200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:117737400-117766600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:117737600-117766800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr8:117737800-117767200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:117738200-117766400	Weak transcription	Placenta	Placenta
18	chr8:117738400-117755400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr8:117738400-117764200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:117739000-117766000	Weak transcription	Liver	Liver
21	chr8:117739800-117760800	Weak transcription	Dnd41	blood
22	chr8:117741000-117766800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:117741200-117752000	Weak transcription	NHEK	skin
24	chr8:117741200-117752400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:117741200-117764400	Weak transcription	HepG2	liver
26	chr8:117741200-117767400	Weak transcription	Aorta	Aorta
27	chr8:117741400-117751200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:117741400-117752200	Weak transcription	A549	lung
29	chr8:117742800-117751200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:117742800-117752400	Weak transcription	Gastric	stomach
31	chr8:117742800-117759400	Weak transcription	Esophagus	oesophagus
32	chr8:117742800-117766400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:117742800-117767400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:117743200-117752400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:117744000-117766800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:117744200-117750600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:117744200-117766400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:117744400-117751200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:117744400-117752000	Weak transcription	Colon Smooth Muscle	Colon
40	chr8:117744400-117752200	Weak transcription	Stomach Mucosa	stomach
41	chr8:117744400-117757200	Weak transcription	K562	blood
42	chr8:117744400-117758800	Weak transcription	Fetal Thymus	thymus
43	chr8:117744400-117766200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr8:117745200-117752400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:117745600-117752000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:117745600-117752000	Weak transcription	HSMM	muscle
47	chr8:117745600-117752400	Weak transcription	Brain Angular Gyrus	brain
48	chr8:117745600-117753000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr8:117745600-117762000	Weak transcription	Left Ventricle	heart
50	chr8:117745600-117766600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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