Variant report

Variant	rs59142644
Chromosome Location	chr8:67032974-67032975
allele	C/T
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	chr8:67025210..67028035-chr8:67030622..67035335,5	K562	blood:
3	chr8:67032547..67035281-chr8:67036251..67039408,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253190	Chromatin interaction
ENSG00000147573	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10092687	1.00[ASN][1000 genomes]
rs10095931	1.00[ASN][1000 genomes]
rs10101457	1.00[ASN][1000 genomes]
rs10113208	1.00[ASN][1000 genomes]
rs11986805	1.00[ASN][1000 genomes]
rs11987000	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988053	1.00[ASN][1000 genomes]
rs11993015	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12334408	1.00[ASN][1000 genomes]
rs16932461	0.81[EUR][1000 genomes]
rs16932465	0.81[EUR][1000 genomes]
rs16932468	0.81[EUR][1000 genomes]
rs16932514	1.00[ASN][1000 genomes]
rs16932544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357669	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28364018	1.00[ASN][1000 genomes]
rs28491110	0.81[EUR][1000 genomes]
rs4366069	1.00[ASN][1000 genomes]
rs4495409	1.00[ASN][1000 genomes]
rs4496952	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56409403	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56411320	0.89[EUR][1000 genomes]
rs56981664	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58195552	0.89[EUR][1000 genomes]
rs6472249	1.00[ASN][1000 genomes]
rs6472251	1.00[ASN][1000 genomes]
rs6988195	1.00[ASN][1000 genomes]
rs7008359	1.00[ASN][1000 genomes]
rs7008578	1.00[ASN][1000 genomes]
rs73246516	1.00[ASN][1000 genomes]
rs73246529	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246531	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246553	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691276	0.89[EUR][1000 genomes]
rs73691300	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834423	1.00[ASN][1000 genomes]
rs7835948	1.00[ASN][1000 genomes]
rs7845334	1.00[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:56 , 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	chr8:67027800-67033800	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:67027800-67036400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:67028000-67033600	Weak transcription	HUVEC	blood vessel
8	chr8:67028000-67034200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:67028000-67036400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:67028200-67033200	Weak transcription	GM12878-XiMat	blood
11	chr8:67028200-67033400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:67028200-67036200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:67030600-67034000	Enhancers	K562	blood
14	chr8:67030600-67034800	Enhancers	HSMM	muscle
15	chr8:67030800-67033000	Enhancers	Fetal Heart	heart
16	chr8:67030800-67033200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr8:67030800-67034200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:67031000-67034200	Enhancers	HSMMtube	muscle
19	chr8:67031000-67034600	Enhancers	HMEC	breast
20	chr8:67031000-67034600	Enhancers	NHLF	lung
21	chr8:67031400-67037400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:67031600-67038000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:67031800-67033000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:67031800-67033600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:67031800-67034000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:67031800-67034200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:67031800-67034400	Enhancers	NHEK	skin
28	chr8:67031800-67036400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:67032000-67033000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:67032000-67038800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr8:67032200-67033000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:67032200-67033000	Enhancers	Left Ventricle	heart
33	chr8:67032200-67034800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:67032200-67035000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:67032200-67035200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:67032200-67036200	Weak transcription	Right Atrium	heart
37	chr8:67032200-67036400	Enhancers	NHDF-Ad	bronchial
38	chr8:67032200-67036400	Enhancers	Osteobl	bone
39	chr8:67032200-67036800	Enhancers	NH-A	brain
40	chr8:67032400-67033000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:67032400-67033800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr8:67032400-67034400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:67032400-67034800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr8:67032600-67033000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr8:67032600-67033600	Enhancers	Hela-S3	cervix
46	chr8:67032600-67033800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:67032600-67036200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:67032600-67037000	Enhancers	Placenta	Placenta
49	chr8:67032600-67038000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr8:67032800-67033400	Enhancers	Liver	Liver

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