Variant report

Variant	rs6468833
Chromosome Location	chr8:103524461-103524462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103422775..103425553-chr8:103523894..103525443,2	MCF-7	breast:
2	chr8:103522488..103525598-chr8:103527242..103531492,4	MCF-7	breast:
3	chr8:103523075..103527068-chr8:103533179..103535230,3	MCF-7	breast:
4	chr8:103423814..103426370-chr8:103522488..103525355,2	MCF-7	breast:
5	chr8:103523909..103525501-chr8:103526582..103528205,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12681900	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16869480	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2436949	0.80[TSI][hapmap]
rs2436971	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4317537	0.84[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs4734058	0.80[ASN][1000 genomes]
rs4734630	0.88[AFR][1000 genomes]
rs4734631	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734632	0.89[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs62524815	0.85[ASN][1000 genomes]
rs62524816	0.85[ASN][1000 genomes]
rs62524817	0.85[ASN][1000 genomes]
rs62524820	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
4	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1831575	chr8:103498317-103585093	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1838972	chr8:103498317-103585093	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1024876	chr8:103512785-103576658	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6468833	UBR5	cis	parietal	SCAN
rs6468833	ZFPM2	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103502800-103529800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:103518200-103529600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:103518200-103529600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:103518400-103529600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:103518400-103529600	Weak transcription	Right Atrium	heart
6	chr8:103522600-103524800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:103523600-103524600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:103523800-103524600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:103523800-103524600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:103523800-103524600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:103523800-103524600	Enhancers	Colon Smooth Muscle	Colon
12	chr8:103523800-103524600	Enhancers	Esophagus	oesophagus
13	chr8:103523800-103524600	Enhancers	Fetal Intestine Large	intestine
14	chr8:103523800-103524600	Enhancers	Fetal Intestine Small	intestine
15	chr8:103523800-103524600	Enhancers	Fetal Kidney	kidney
16	chr8:103523800-103524800	Enhancers	A549	lung
17	chr8:103524000-103524600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:103524000-103524600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:103524000-103524600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:103524000-103524600	Enhancers	Duodenum Mucosa	Duodenum
21	chr8:103524000-103524600	Enhancers	Stomach Smooth Muscle	stomach
22	chr8:103524200-103524600	Enhancers	Fetal Lung	lung
23	chr8:103524200-103524800	Enhancers	HepG2	liver
24	chr8:103524200-103529600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:103524400-103529600	Weak transcription	Fetal Brain Male	brain
26	chr8:103524400-103529800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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