Variant report

Variant	rs407630
Chromosome Location	chr6:121425387-121425388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10456938	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10457413	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10457414	0.84[CEU][hapmap]
rs11153999	0.87[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11154001	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11154002	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11154012	1.00[ASW][hapmap];0.91[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs11759795	0.96[CEU][hapmap];1.00[YRI][hapmap]
rs12192398	0.96[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12206641	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12212646	0.95[CEU][hapmap]
rs1290679	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13199297	1.00[ASW][hapmap];0.80[CEU][hapmap];0.83[GIH][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17644324	1.00[ASW][hapmap];0.96[CEU][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs1935944	0.80[EUR][1000 genomes]
rs1935946	0.80[EUR][1000 genomes]
rs2203590	0.80[EUR][1000 genomes]
rs28877073	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs421242	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4945673	0.81[EUR][1000 genomes]
rs6940928	0.80[EUR][1000 genomes]
rs7745023	1.00[ASW][hapmap];0.91[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap]
rs7748027	0.80[EUR][1000 genomes]
rs9387918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9482115	0.80[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	nsv1023384	chr6:121235867-121683448	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv886592	chr6:121260089-121425387	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv1830193	chr6:121392847-121425387	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
5	esv1812259	chr6:121404112-121451095	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121390800-121444000	Weak transcription	Ovary	ovary
2	chr6:121403600-121443400	Weak transcription	Left Ventricle	heart
3	chr6:121405800-121432000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:121411800-121443000	Weak transcription	Primary T cells from cord blood	blood
5	chr6:121412600-121426200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:121415400-121442200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:121418000-121442200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:121418200-121436000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:121418200-121443800	Weak transcription	Dnd41	blood
10	chr6:121418600-121446200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:121418800-121434400	Weak transcription	Fetal Intestine Large	intestine
12	chr6:121419800-121446200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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