Variant report

Variant	rs11780171
Chromosome Location	chr8:67034431-67034432
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67024509..67028261-chr8:67030729..67035819,11	K562	blood:
2	chr8:67034177..67036746-chr8:67340648..67343642,3	MCF-7	breast:
3	chr8:67025210..67028035-chr8:67030622..67035335,5	K562	blood:
4	chr8:67034311..67037696-chr8:67040504..67042918,4	MCF-7	breast:
5	chr8:67032547..67035281-chr8:67036251..67039408,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147576	Chromatin interaction
ENSG00000147573	Chromatin interaction
ENSG00000179041	Chromatin interaction
ENSG00000253190	Chromatin interaction
ENSG00000246145	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10100725	0.87[ASN][1000 genomes]
rs10113415	0.95[ASN][1000 genomes]
rs10957366	0.96[ASN][1000 genomes]
rs11778990	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11785596	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11993997	0.96[ASN][1000 genomes]
rs11997605	0.87[ASN][1000 genomes]
rs13252033	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13253129	0.84[ASN][1000 genomes]
rs13253380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13256041	0.81[AMR][1000 genomes]
rs13257752	0.87[ASN][1000 genomes]
rs13261922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13262438	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13264487	0.92[ASN][1000 genomes]
rs13266516	0.92[ASN][1000 genomes]
rs13274510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13276881	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13282248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16932626	0.89[EUR][1000 genomes]
rs2004424	0.89[EUR][1000 genomes]
rs28825143	0.84[ASN][1000 genomes]
rs3210836	0.89[EUR][1000 genomes]
rs4262310	0.92[ASN][1000 genomes]
rs4737225	0.89[EUR][1000 genomes]
rs6159	0.83[ASN][1000 genomes]
rs6472246	0.92[ASN][1000 genomes]
rs6472247	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6472248	0.92[ASN][1000 genomes]
rs6990045	0.87[ASN][1000 genomes]
rs6999100	0.88[ASN][1000 genomes]
rs7009913	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7010033	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7014971	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7016922	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7017358	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71515499	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7824630	0.92[ASN][1000 genomes]
rs7825257	0.99[ASN][1000 genomes]
rs7827531	0.92[ASN][1000 genomes]
rs7835214	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7843077	0.94[ASN][1000 genomes]
rs884839	0.92[ASN][1000 genomes]
rs9298110	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67027200-67035800	Weak transcription	Psoas Muscle	Psoas
2	chr8:67027200-67036200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:67027200-67036200	Weak transcription	Right Ventricle	heart
4	chr8:67027400-67035600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:67027800-67036400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:67028000-67036400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:67028200-67036200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:67030600-67034800	Enhancers	HSMM	muscle
9	chr8:67031000-67034600	Enhancers	HMEC	breast
10	chr8:67031000-67034600	Enhancers	NHLF	lung
11	chr8:67031400-67037400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:67031600-67038000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:67031800-67036400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:67032000-67038800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:67032200-67034800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:67032200-67035000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:67032200-67035200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:67032200-67036200	Weak transcription	Right Atrium	heart
19	chr8:67032200-67036400	Enhancers	NHDF-Ad	bronchial
20	chr8:67032200-67036400	Enhancers	Osteobl	bone
21	chr8:67032200-67036800	Enhancers	NH-A	brain
22	chr8:67032400-67034800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:67032600-67036200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:67032600-67037000	Enhancers	Placenta	Placenta
25	chr8:67032600-67038000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr8:67032800-67036400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:67032800-67036600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr8:67033000-67035000	Enhancers	Primary hematopoietic stem cells	blood
29	chr8:67033000-67035800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:67033000-67036200	Weak transcription	Left Ventricle	heart
31	chr8:67033000-67036400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:67033000-67036400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr8:67033200-67037200	Enhancers	GM12878-XiMat	blood
34	chr8:67033200-67037600	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr8:67033400-67035600	Weak transcription	Liver	Liver
36	chr8:67033400-67035800	Weak transcription	Primary B cells from cord blood	blood
37	chr8:67033600-67034600	Weak transcription	Fetal Heart	heart
38	chr8:67033600-67034800	Enhancers	A549	lung
39	chr8:67033600-67035000	Enhancers	HUVEC	blood vessel
40	chr8:67033600-67035400	Weak transcription	Hela-S3	cervix
41	chr8:67033600-67035800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:67033600-67036000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:67033800-67035600	Weak transcription	Adipose Nuclei	Adipose
44	chr8:67033800-67035800	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr8:67033800-67036400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:67033800-67039000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:67034000-67034800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:67034000-67035800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr8:67034000-67036200	Weak transcription	K562	blood
50	chr8:67034200-67034600	Weak transcription	HSMMtube	muscle

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