Variant report

Variant	rs73246553
Chromosome Location	chr8:67038492-67038493
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67024901..67027907-chr8:67036381..67039126,4	K562	blood:
2	chr8:67035224..67038920-chr8:67039604..67043396,7	MCF-7	breast:
3	chr8:67035768..67039915-chr8:67339207..67342855,3	MCF-7	breast:
4	chr8:67037239..67039117-chr8:67341099..67342828,2	MCF-7	breast:

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

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

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	1.00[EUR][1000 genomes]
rs11988053	1.00[ASN][1000 genomes]
rs11993015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56409403	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56411320	0.89[EUR][1000 genomes]
rs56981664	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58195552	0.89[EUR][1000 genomes]
rs59142644	1.00[EUR][1000 genomes];1.00[ASN][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	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246531	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246560	0.86[AFR][1000 genomes]
rs73691276	0.89[EUR][1000 genomes]
rs73691300	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67032000-67038800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr8:67033800-67039000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:67034600-67038800	Enhancers	Fetal Heart	heart
4	chr8:67036600-67039200	Weak transcription	Fetal Thymus	thymus
5	chr8:67036800-67038800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:67036800-67038800	Weak transcription	Right Atrium	heart
7	chr8:67036800-67038800	Weak transcription	Right Ventricle	heart
8	chr8:67036800-67038800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:67036800-67038800	Enhancers	HSMM	muscle
10	chr8:67036800-67039000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:67036800-67039000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:67036800-67039000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:67036800-67039000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:67036800-67039000	Weak transcription	Aorta	Aorta
15	chr8:67036800-67039000	Weak transcription	Left Ventricle	heart
16	chr8:67036800-67039400	Weak transcription	Psoas Muscle	Psoas
17	chr8:67036800-67044800	Weak transcription	Pancreas	Pancrea
18	chr8:67036800-67044800	Weak transcription	Spleen	Spleen
19	chr8:67036800-67046400	Enhancers	NHLF	lung
20	chr8:67036800-67047000	Enhancers	NHDF-Ad	bronchial
21	chr8:67036800-67047200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:67037000-67038800	Weak transcription	Fetal Kidney	kidney
23	chr8:67037000-67039000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:67037000-67039000	Weak transcription	Placenta	Placenta
25	chr8:67037000-67039200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:67037000-67040200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:67037200-67038800	Enhancers	Liver	Liver
28	chr8:67037200-67038800	Weak transcription	GM12878-XiMat	blood
29	chr8:67037200-67040200	Weak transcription	Adipose Nuclei	Adipose
30	chr8:67037200-67040600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:67037200-67042200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:67037400-67039000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:67037400-67039000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:67037400-67039000	Enhancers	A549	lung
35	chr8:67037400-67040200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:67037400-67040600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:67037400-67042400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:67037600-67038800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:67037600-67038800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:67037600-67039000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:67037600-67039000	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:67037600-67040200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:67037600-67040200	Weak transcription	Osteobl	bone
44	chr8:67037600-67041800	Weak transcription	Hela-S3	cervix
45	chr8:67037800-67038800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:67037800-67038800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr8:67037800-67039000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:67037800-67039000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:67037800-67039000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:67037800-67039600	Weak transcription	Placenta Amnion	Placenta Amnion

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