Variant report

Variant	rs2454012
Chromosome Location	chr8:104147026-104147027
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104145448..104147385-chr8:104217856..104220311,2	MCF-7	breast:
2	chr8:104144119..104147057-chr8:104147577..104149129,2	K562	blood:
3	chr8:104144818..104147441-chr8:104426048..104427977,2	K562	blood:
4	chr8:104114771..104116295-chr8:104145426..104148111,2	K562	blood:
5	chr8:104110222..104113167-chr8:104144712..104147363,2	K562	blood:
6	chr8:104141446..104144347-chr8:104146017..104147840,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164934	Chromatin interaction
ENSG00000164933	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10088491	0.84[AFR][1000 genomes]
rs10955310	0.86[AFR][1000 genomes]
rs13264626	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs1391117	0.82[CEU][hapmap]
rs1494276	0.85[YRI][hapmap]
rs2256164	0.85[YRI][hapmap];0.83[AFR][1000 genomes]
rs2454013	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2454014	0.86[YRI][hapmap]
rs2515177	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104143200-104147200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:104143200-104147200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:104143600-104147200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:104144200-104147200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:104145000-104147200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:104145000-104149400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:104145600-104148600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:104145600-104148800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:104145600-104148800	Weak transcription	Osteobl	bone
10	chr8:104146000-104148600	Weak transcription	Ovary	ovary
11	chr8:104146200-104147200	Enhancers	Brain Hippocampus Middle	brain
12	chr8:104146200-104149000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:104146400-104147200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:104146400-104149400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:104146800-104147200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr8:104146800-104148600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:104146800-104152000	Weak transcription	Fetal Brain Male	brain
18	chr8:104146800-104152600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:104147000-104149000	Weak transcription	Brain Angular Gyrus	brain
20	chr8:104147000-104149000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:104147000-104149200	Weak transcription	Brain Substantia Nigra	brain
22	chr8:104147000-104150800	Weak transcription	Brain Anterior Caudate	brain

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