Variant report

Variant	rs11901421
Chromosome Location	chr2:180083591-180083592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:180083493..180084369-chr2:180219016..180219973,3	MCF-7	breast:
2	chr2:180083391..180084449-chr2:180205175..180206192,5	MCF-7	breast:
3	chr2:180083560..180084369-chr2:180205061..180206359,5	MCF-7	breast:
4	chr2:180083424..180084063-chr2:180275340..180276272,2	MCF-7	breast:
5	chr2:180083456..180084009-chr2:180615655..180616482,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10497535	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs11891072	0.92[AMR][1000 genomes]
rs11897308	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11901408	0.88[YRI][hapmap];0.92[AMR][1000 genomes]
rs11903685	0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11904657	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1490997	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16866635	0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs16866636	0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs16866647	1.00[MEX][hapmap]
rs16866667	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2044477	0.85[AFR][1000 genomes]
rs3731739	1.00[ASW][hapmap];0.88[LWK][hapmap];0.92[MKK][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs3816345	1.00[ASW][hapmap];0.83[LWK][hapmap];0.92[MKK][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs6433758	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6433762	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6433763	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6433765	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs6707001	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6710100	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6723850	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6725309	0.82[YRI][hapmap]
rs6728401	0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6745433	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6746115	1.00[MEX][hapmap]
rs7566810	0.88[ASW][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs7598995	0.82[YRI][hapmap];0.81[AMR][1000 genomes]
rs7608106	0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs930620	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv3061	chr2:180057194-180095718	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv583774	chr2:180068214-180083591	ZNF genes & repeats Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1840933	chr2:180068214-180089983	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv583840	chr2:180069686-180083591	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3341806	chr2:180070495-180093344	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv583862	chr2:180070574-180083591	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv508185	chr2:180070760-180085648	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv583865	chr2:180072586-180088968	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180067600-180097600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:180067600-180104600	Weak transcription	Fetal Kidney	kidney
3	chr2:180068000-180103800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:180068400-180092800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:180072400-180090400	Weak transcription	Pancreas	Pancrea
6	chr2:180077600-180086400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:180083200-180083800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:180083200-180083800	Enhancers	HSMMtube	muscle
9	chr2:180083200-180084200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:180083200-180084200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:180083400-180083800	Enhancers	Adipose Nuclei	Adipose
12	chr2:180083400-180083800	Enhancers	Fetal Heart	heart
13	chr2:180083400-180083800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr2:180083400-180083800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:180083400-180083800	Enhancers	HepG2	liver
16	chr2:180083400-180083800	Enhancers	HSMM	muscle
17	chr2:180083400-180084000	Enhancers	Liver	Liver
18	chr2:180083400-180084000	Enhancers	Colon Smooth Muscle	Colon
19	chr2:180083400-180084200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:180083400-180084200	Enhancers	Brain Angular Gyrus	brain
21	chr2:180083400-180085400	Enhancers	Brain Hippocampus Middle	brain
22	chr2:180083400-180085600	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:180083400-180085600	Enhancers	Brain Cingulate Gyrus	brain

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