Variant report

Variant	rs12164195
Chromosome Location	chr8:62722865-62722866
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:62565109..62565756-chr8:62722266..62723174,2	MCF-7	breast:
2	chr8:62722647..62723219-chr8:63317559..63318273,2	MCF-7	breast:
3	chr8:62722292..62723197-chr8:63896539..63897247,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10957204	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1495001	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16927978	0.95[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs34037365	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	esv3363755	chr8:62702301-62764282	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62716800-62724200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:62719600-62723600	Weak transcription	Hela-S3	cervix
3	chr8:62719800-62723800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:62720400-62724000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:62722200-62723000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr8:62722200-62723000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:62722200-62723000	Enhancers	Fetal Brain Male	brain
8	chr8:62722200-62723400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:62722200-62723600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:62722600-62723000	Enhancers	Primary B cells from peripheral blood	blood
11	chr8:62722600-62723000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:62722600-62723200	Active TSS	A549	lung
13	chr8:62722600-62723400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr8:62722600-62723600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:62722600-62725000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr8:62722600-62726600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:62722800-62723000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:62722800-62723000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:62722800-62723000	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr8:62722800-62723000	Enhancers	Colonic Mucosa	Colon
21	chr8:62722800-62723000	Enhancers	Esophagus	oesophagus
22	chr8:62722800-62723000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr8:62722800-62723000	Enhancers	Placenta	Placenta
24	chr8:62722800-62723000	Enhancers	Pancreas	Pancrea
25	chr8:62722800-62723000	Enhancers	Right Atrium	heart
26	chr8:62722800-62723000	Enhancers	NHDF-Ad	bronchial
27	chr8:62722800-62723000	Flanking Active TSS	NHLF	lung
28	chr8:62722800-62723200	Enhancers	Adipose Nuclei	Adipose
29	chr8:62722800-62723200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr8:62722800-62723200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr8:62722800-62723200	Enhancers	HepG2	liver

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