Variant report

Variant	rs71484433
Chromosome Location	chr11:57052571-57052572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57052039..57055277-chr11:57089920..57092919,3	MCF-7	breast:
2	chr11:57051990..57054187-chr11:57076546..57078465,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149115	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1124846	1.00[AFR][1000 genomes]
rs12417609	1.00[AFR][1000 genomes]
rs12417875	1.00[AFR][1000 genomes]
rs12574780	0.93[AMR][1000 genomes]
rs12576471	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12576855	1.00[AFR][1000 genomes]
rs12785770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12786396	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12787728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12788046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12789789	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12790623	1.00[AFR][1000 genomes]
rs12792413	1.00[AFR][1000 genomes]
rs12797375	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12798121	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12799582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12800182	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12800196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12800402	1.00[AFR][1000 genomes]
rs12801000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12802096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12803405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12804022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12806656	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12806978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12807593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12808193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12808495	1.00[AFR][1000 genomes]
rs12808784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12808788	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808989	1.00[EUR][1000 genomes]
rs17145552	1.00[AFR][1000 genomes]
rs17145556	1.00[AFR][1000 genomes]
rs17151596	1.00[AFR][1000 genomes]
rs17151610	1.00[AFR][1000 genomes]
rs17151664	1.00[AFR][1000 genomes]
rs17151671	1.00[AFR][1000 genomes]
rs17151841	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17564188	1.00[AFR][1000 genomes]
rs17651297	1.00[AFR][1000 genomes]
rs17651573	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1806823	1.00[AFR][1000 genomes]
rs1939488	1.00[EUR][1000 genomes]
rs1941034	1.00[AFR][1000 genomes]
rs1941054	1.00[AFR][1000 genomes]
rs1943485	1.00[AFR][1000 genomes]
rs2077188	1.00[AFR][1000 genomes]
rs2156457	1.00[AFR][1000 genomes]
rs2156458	1.00[AFR][1000 genomes]
rs2156460	1.00[AFR][1000 genomes]
rs2212608	1.00[AFR][1000 genomes]
rs2230648	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2511025	0.93[AMR][1000 genomes]
rs2846046	0.93[AMR][1000 genomes]
rs2851723	0.93[AMR][1000 genomes]
rs34014874	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34069781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34076116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34085089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34177110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34458685	1.00[AFR][1000 genomes]
rs34498883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34505638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34544917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34555300	1.00[ASN][1000 genomes]
rs34572680	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34704777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34742309	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs34754262	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34761603	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34769912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34850337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34905018	1.00[AFR][1000 genomes]
rs34985061	1.00[AFR][1000 genomes]
rs35272228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35284031	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35366909	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35388927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35407832	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35536636	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs35566323	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35707583	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35721601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35818468	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35845551	1.00[AFR][1000 genomes]
rs35943801	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35950335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35980006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35991636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36090449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs499885	0.86[AMR][1000 genomes]
rs558266	0.86[AMR][1000 genomes]
rs578831	0.86[AMR][1000 genomes]
rs655402	0.86[AMR][1000 genomes]
rs656366	0.86[AMR][1000 genomes]
rs6591419	1.00[EUR][1000 genomes]
rs670919	0.86[AMR][1000 genomes]
rs71460546	1.00[AFR][1000 genomes]
rs71484411	1.00[AFR][1000 genomes]
rs71484414	1.00[AFR][1000 genomes]
rs71484419	1.00[AFR][1000 genomes]
rs71484422	1.00[AFR][1000 genomes]
rs71484424	1.00[AFR][1000 genomes]
rs71484425	1.00[AFR][1000 genomes]
rs71484428	1.00[AFR][1000 genomes]
rs71484429	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs71484430	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs71484431	1.00[AFR][1000 genomes]
rs71484432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71484434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71484441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71484443	0.81[EUR][1000 genomes]
rs71484444	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484445	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484446	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs717117	1.00[AFR][1000 genomes]
rs746885	1.00[AFR][1000 genomes]
rs948843	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57045800-57054200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:57046000-57062000	Weak transcription	Right Atrium	heart
3	chr11:57046600-57056000	Weak transcription	Adipose Nuclei	Adipose
4	chr11:57048200-57055200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:57048200-57055600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:57048200-57056400	Weak transcription	Gastric	stomach
7	chr11:57050200-57053800	Enhancers	Placenta	Placenta
8	chr11:57050400-57052600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:57051400-57052800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:57051400-57055000	Weak transcription	HMEC	breast
11	chr11:57051400-57055200	Weak transcription	NHEK	skin
12	chr11:57051400-57055800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:57051400-57056200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:57051600-57054200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:57051600-57055600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:57051600-57055600	Weak transcription	HSMM	muscle
17	chr11:57051600-57056200	Weak transcription	Stomach Mucosa	stomach
18	chr11:57051600-57056600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:57051800-57054400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:57051800-57055400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:57051800-57055600	Weak transcription	NHDF-Ad	bronchial
22	chr11:57051800-57055800	Weak transcription	Small Intestine	intestine
23	chr11:57051800-57056200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:57051800-57056400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:57051800-57056400	Weak transcription	Esophagus	oesophagus
26	chr11:57051800-57062000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:57052000-57055800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:57052000-57055800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:57052000-57056000	Weak transcription	Fetal Intestine Small	intestine
30	chr11:57052000-57056200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:57052000-57056200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:57052000-57056400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:57052000-57056600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:57052200-57055800	Weak transcription	HSMMtube	muscle
35	chr11:57052200-57056400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:57052200-57056400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:57052200-57060400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:57052400-57053000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr11:57052400-57055400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:57052400-57055400	Weak transcription	Fetal Intestine Large	intestine
41	chr11:57052400-57055400	Weak transcription	Osteobl	bone
42	chr11:57052400-57057200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:57052400-57078200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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