Variant report

Variant	rs12675899
Chromosome Location	chr8:92071444-92071445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:92069799..92074367-chr8:92078994..92083386,4	MCF-7	breast:
2	chr8:92060283..92062519-chr8:92069210..92073278,3	K562	blood:
3	chr8:92051435..92054379-chr8:92069488..92072968,3	K562	blood:

Variant related genes	Relation type
ENSG00000155100	Chromatin interaction
ENSG00000155099	Chromatin interaction
ENSG00000253738	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12678556	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4324887	1.00[EUR][1000 genomes]
rs4501549	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57191778	1.00[EUR][1000 genomes]
rs7817959	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92053800-92080400	Weak transcription	Fetal Brain Female	brain
2	chr8:92061000-92079200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:92061400-92074600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:92061400-92075000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:92061400-92076600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr8:92063200-92079000	Weak transcription	Primary B cells from cord blood	blood
7	chr8:92063600-92071800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:92066000-92078000	Weak transcription	K562	blood
9	chr8:92066200-92081400	Weak transcription	Left Ventricle	heart
10	chr8:92068400-92077400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:92070200-92075200	Weak transcription	Primary T cells from cord blood	blood
12	chr8:92070400-92072800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:92070400-92078600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:92070600-92072200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:92070600-92079200	Weak transcription	Fetal Intestine Large	intestine
16	chr8:92070600-92080600	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:92070600-92081200	Weak transcription	Aorta	Aorta
18	chr8:92070800-92072200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:92070800-92080600	Weak transcription	Fetal Kidney	kidney
20	chr8:92071000-92076800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr8:92071200-92072200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:92071400-92079200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:92071400-92080800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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