Variant report

Variant	rs73250216
Chromosome Location	chr8:67508375-67508376
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67433177..67435997-chr8:67507206..67509731,2	MCF-7	breast:
2	chr8:67507365..67510366-chr8:67517429..67519432,3	K562	blood:
3	chr8:67506900..67508646-chr8:67517490..67519455,2	MCF-7	breast:
4	chr8:67507430..67510358-chr8:67514021..67516283,2	MCF-7	breast:
5	chr8:67508342..67511691-chr8:67525398..67527272,3	K562	blood:

Variant related genes	Relation type
ENSG00000185697	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58336876	1.00[EUR][1000 genomes]
rs73248131	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73250222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73250226	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73255666	1.00[EUR][1000 genomes]
rs73259795	1.00[EUR][1000 genomes]
rs73259801	1.00[EUR][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	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67473400-67519600	Weak transcription	HMEC	breast
2	chr8:67474200-67521000	Weak transcription	NHEK	skin
3	chr8:67474200-67523000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:67474600-67511200	Weak transcription	A549	lung
5	chr8:67474600-67520000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:67474800-67523200	Weak transcription	NH-A	brain
7	chr8:67479000-67513600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:67481800-67523000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:67488600-67508800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:67488600-67523200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:67488800-67509000	Weak transcription	Dnd41	blood
12	chr8:67492600-67509200	Weak transcription	Osteobl	bone
13	chr8:67494800-67517800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr8:67495000-67519600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:67496600-67517400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr8:67496800-67519600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:67499400-67518000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:67499400-67520800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:67500800-67523400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:67501200-67521200	Weak transcription	NHLF	lung
21	chr8:67502000-67515400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:67502000-67517400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr8:67502400-67513000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:67502600-67512000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:67502600-67515400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:67502800-67519000	Weak transcription	GM12878-XiMat	blood
27	chr8:67503400-67515800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr8:67503800-67514200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:67504600-67513600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr8:67504600-67514200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:67504800-67513000	Strong transcription	HSMM	muscle
32	chr8:67505400-67509200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:67506200-67522000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:67506400-67512800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:67507200-67513400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr8:67507200-67519400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:67507800-67513000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:67507800-67514800	Strong transcription	NHDF-Ad	bronchial
39	chr8:67508000-67509200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:67508000-67509600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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