Variant report

Variant	rs2357669
Chromosome Location	chr8:67039939-67039940
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67038868..67041219-chr8:67343383..67346327,3	MCF-7	breast:
2	chr16:85496045..85498837-chr8:67039520..67042382,2	MCF-7	breast:
3	chr8:67024747..67027371-chr8:67038783..67042182,4	MCF-7	breast:
4	chr8:67035224..67038920-chr8:67039604..67043396,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253190	Chromatin interaction
ENSG00000147576	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]
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]
rs73246553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67036800-67044800	Weak transcription	Pancreas	Pancrea
2	chr8:67036800-67044800	Weak transcription	Spleen	Spleen
3	chr8:67036800-67046400	Enhancers	NHLF	lung
4	chr8:67036800-67047000	Enhancers	NHDF-Ad	bronchial
5	chr8:67036800-67047200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:67037000-67040200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:67037200-67040200	Weak transcription	Adipose Nuclei	Adipose
8	chr8:67037200-67040600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:67037200-67042200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:67037400-67040200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:67037400-67040600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:67037400-67042400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:67037600-67040200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:67037600-67040200	Weak transcription	Osteobl	bone
15	chr8:67037600-67041800	Weak transcription	Hela-S3	cervix
16	chr8:67037800-67040200	Weak transcription	NH-A	brain
17	chr8:67037800-67040800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:67037800-67041800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:67038000-67040400	Weak transcription	NHEK	skin
20	chr8:67038000-67040600	Weak transcription	HMEC	breast
21	chr8:67038400-67040200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:67038800-67040400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:67038800-67040400	Active TSS	Fetal Heart	heart
24	chr8:67038800-67040400	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr8:67038800-67040800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr8:67038800-67042600	Active TSS	Fetal Muscle Trunk	muscle
27	chr8:67038800-67042600	Active TSS	Right Atrium	heart
28	chr8:67038800-67043800	Active TSS	Right Ventricle	heart
29	chr8:67039000-67040000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr8:67039000-67040800	Active TSS	HSMM	muscle
31	chr8:67039000-67048800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr8:67039200-67040400	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr8:67039200-67041600	Active TSS	Left Ventricle	heart
34	chr8:67039200-67042400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr8:67039400-67040200	Active TSS	HSMMtube	muscle
36	chr8:67039400-67040400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:67039400-67040800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:67039400-67042400	Weak transcription	GM12878-XiMat	blood
39	chr8:67039400-67043600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:67039600-67040000	Active TSS	Placenta Amnion	Placenta Amnion
41	chr8:67039600-67040200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:67039600-67040400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:67039600-67040400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:67039600-67040400	Active TSS	Muscle Satellite Cultured Cells	--
45	chr8:67039600-67040400	Active TSS	Fetal Muscle Leg	muscle
46	chr8:67039600-67040400	Weak transcription	A549	lung
47	chr8:67039600-67040600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:67039600-67040600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:67039600-67040800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:67039600-67040800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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