Variant report

Variant	rs10450661
Chromosome Location	chr11:71157726-71157727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr11:71157693-71160571	MCF-7	breast:	n/a	n/a
2	KAP1	chr11:71157123-71157759	K562	blood:	n/a	n/a
3	POLR2A	chr11:71157394-71158259	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71144398..71146962-chr11:71155881..71158329,2	K562	blood:
2	chr11:71150692..71153685-chr11:71157371..71159231,2	K562	blood:
3	chr11:71156994..71165841-chr11:71185066..71202614,31	MCF-7	breast:
4	chr11:71137158..71140424-chr11:71155885..71157748,3	K562	blood:

Variant related genes	Relation type
ENSG00000254682	TF binding region
ENSG00000172893	Chromatin interaction
ENSG00000172890	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10160376	1.00[EUR][1000 genomes]
rs10160536	1.00[EUR][1000 genomes]
rs10450662	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10466698	1.00[EUR][1000 genomes]
rs10466717	1.00[EUR][1000 genomes]
rs11233662	1.00[EUR][1000 genomes]
rs11233679	1.00[EUR][1000 genomes]
rs11233754	1.00[EUR][1000 genomes]
rs11233871	1.00[EUR][1000 genomes]
rs11233901	1.00[EUR][1000 genomes]
rs11233950	1.00[EUR][1000 genomes]
rs11234008	1.00[EUR][1000 genomes]
rs11234009	1.00[EUR][1000 genomes]
rs12270619	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12271661	1.00[EUR][1000 genomes]
rs12271811	1.00[EUR][1000 genomes]
rs12271894	1.00[EUR][1000 genomes]
rs12271996	1.00[EUR][1000 genomes]
rs12272475	1.00[EUR][1000 genomes]
rs12272819	1.00[EUR][1000 genomes]
rs12274022	1.00[EUR][1000 genomes]
rs12274073	1.00[EUR][1000 genomes]
rs12274363	1.00[EUR][1000 genomes]
rs12275637	1.00[EUR][1000 genomes]
rs12277617	1.00[EUR][1000 genomes]
rs12277693	1.00[EUR][1000 genomes]
rs12278475	1.00[EUR][1000 genomes]
rs12280295	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12281892	1.00[EUR][1000 genomes]
rs12282060	1.00[EUR][1000 genomes]
rs12283407	1.00[EUR][1000 genomes]
rs12283656	1.00[EUR][1000 genomes]
rs12284909	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12285168	1.00[EUR][1000 genomes]
rs12285189	1.00[EUR][1000 genomes]
rs12285333	1.00[EUR][1000 genomes]
rs12285566	1.00[EUR][1000 genomes]
rs12286197	1.00[EUR][1000 genomes]
rs12286997	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12289365	1.00[EUR][1000 genomes]
rs12289373	1.00[EUR][1000 genomes]
rs12291219	1.00[EUR][1000 genomes]
rs12292886	1.00[EUR][1000 genomes]
rs12293132	1.00[EUR][1000 genomes]
rs12294879	1.00[EUR][1000 genomes]
rs12295554	1.00[EUR][1000 genomes]
rs17161531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2298775	1.00[EUR][1000 genomes]
rs28468070	1.00[EUR][1000 genomes]
rs28481909	1.00[EUR][1000 genomes]
rs28655145	1.00[EUR][1000 genomes]
rs3794059	1.00[EUR][1000 genomes]
rs3794061	1.00[EUR][1000 genomes]
rs3814732	1.00[EUR][1000 genomes]
rs56012338	1.00[EUR][1000 genomes]
rs56120850	1.00[EUR][1000 genomes]
rs57696920	0.81[AFR][1000 genomes]
rs58884740	1.00[EUR][1000 genomes]
rs59553442	1.00[EUR][1000 genomes]
rs59601821	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61440863	1.00[EUR][1000 genomes]
rs61663342	1.00[EUR][1000 genomes]
rs6592104	1.00[EUR][1000 genomes]
rs7129788	0.81[AFR][1000 genomes]
rs7130038	0.81[AFR][1000 genomes]
rs73530502	1.00[EUR][1000 genomes]
rs7950991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71140600-71158200	Weak transcription	Fetal Brain Male	brain
2	chr11:71144200-71158200	Weak transcription	Small Intestine	intestine
3	chr11:71144600-71157800	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:71144800-71157800	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr11:71145000-71157800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:71145000-71158600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:71145200-71157800	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr11:71145400-71157800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:71145400-71158000	Weak transcription	Stomach Mucosa	stomach
10	chr11:71145600-71158000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:71145800-71157800	Strong transcription	Fetal Intestine Small	intestine
12	chr11:71146000-71158000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:71148000-71158000	Strong transcription	Brain Hippocampus Middle	brain
14	chr11:71148000-71158400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:71148200-71158600	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:71148400-71157800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:71148400-71158000	Strong transcription	NHLF	lung
18	chr11:71149000-71158600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:71149800-71157800	Strong transcription	HUVEC	blood vessel
20	chr11:71150000-71158600	Weak transcription	Right Atrium	heart
21	chr11:71151600-71158000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:71151800-71158600	Weak transcription	Psoas Muscle	Psoas
23	chr11:71152600-71158000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:71152600-71158000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:71152800-71158400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:71154000-71157800	Strong transcription	HSMM	muscle
27	chr11:71154600-71158200	Weak transcription	Fetal Kidney	kidney
28	chr11:71155000-71158600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:71155000-71158600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:71155200-71158200	Weak transcription	Fetal Lung	lung
31	chr11:71155200-71158400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:71155200-71158600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:71155400-71158600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:71155400-71158600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:71155400-71158600	Weak transcription	Aorta	Aorta
36	chr11:71155400-71158600	Weak transcription	Thymus	Thymus
37	chr11:71155400-71158800	Weak transcription	Left Ventricle	heart
38	chr11:71155600-71158000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:71155600-71158000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr11:71155600-71158000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:71155600-71158000	Weak transcription	Fetal Thymus	thymus
42	chr11:71155600-71158600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr11:71156000-71157800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:71156000-71157800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:71156200-71157800	Weak transcription	Fetal Brain Female	brain
46	chr11:71156200-71158000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:71156200-71158400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:71156200-71158400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr11:71156200-71158400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:71156200-71158600	Weak transcription	Primary T cells from cord blood	blood

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