Variant report

Variant	rs62527631
Chromosome Location	chr8:104166539-104166540
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104164036..104165922-chr8:104166497..104168627,2	MCF-7	breast:
2	chr8:104153176..104156099-chr8:104164228..104166566,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236939	Chromatin interaction
ENSG00000164929	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16870235	1.00[AFR][1000 genomes]
rs56356799	1.00[AFR][1000 genomes]
rs62527635	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62527638	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62527640	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62527644	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62527645	0.92[AMR][1000 genomes]
rs62527646	1.00[AFR][1000 genomes]
rs62527647	1.00[AFR][1000 genomes]
rs62527649	1.00[AFR][1000 genomes]
rs62527651	1.00[AFR][1000 genomes]
rs62527652	1.00[AFR][1000 genomes]
rs7006682	1.00[ASN][1000 genomes]
rs7009527	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72671378	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72673313	1.00[AFR][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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104154000-104177200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:104162000-104168000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:104162400-104169000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:104162600-104166800	Enhancers	Brain Substantia Nigra	brain
5	chr8:104162800-104172600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:104163600-104166600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:104164000-104166600	Enhancers	Fetal Brain Male	brain
8	chr8:104164200-104168000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr8:104164600-104168200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:104164600-104168600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:104164600-104169200	Enhancers	Brain Hippocampus Middle	brain
12	chr8:104164800-104166800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:104165000-104166800	Weak transcription	Lung	lung
14	chr8:104165000-104167600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:104165000-104176400	Weak transcription	NHDF-Ad	bronchial
16	chr8:104165000-104176600	Weak transcription	Osteobl	bone
17	chr8:104165200-104167800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:104165400-104166600	Enhancers	Primary hematopoietic stem cells	blood
19	chr8:104165400-104167200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:104165400-104167800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr8:104165400-104168600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:104165400-104170200	Weak transcription	NHLF	lung
23	chr8:104165800-104166600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:104165800-104166600	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr8:104165800-104166600	Enhancers	HSMM	muscle
26	chr8:104166000-104166600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:104166000-104166800	Enhancers	Brain Angular Gyrus	brain
28	chr8:104166000-104167600	Weak transcription	Left Ventricle	heart
29	chr8:104166200-104166600	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr8:104166200-104166600	Enhancers	Fetal Brain Female	brain
31	chr8:104166200-104166600	Enhancers	HSMMtube	muscle
32	chr8:104166200-104167600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:104166200-104179800	Weak transcription	Spleen	Spleen
34	chr8:104166400-104166800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:104166400-104169800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:104166400-104170200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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