Variant report

Variant	rs10832748
Chromosome Location	chr11:17251731-17251732
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17251318..17252261-chr11:17405052..17406043,5	MCF-7	breast:
2	chr11:17251351..17251972-chr11:17410334..17410928,2	MCF-7	breast:
3	chr11:17251256..17252008-chr11:17375735..17376626,3	MCF-7	breast:
4	chr11:17251338..17252303-chr11:17525826..17526790,3	K562	blood:
5	chr11:17251431..17252316-chr11:17372886..17373548,2	MCF-7	breast:
6	chr11:17251345..17252271-chr11:17549390..17549954,2	K562	blood:

Variant related genes	Relation type
ENSG00000187486	Chromatin interaction
ENSG00000188211	Chromatin interaction

Extended variants
information (count: 134 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10741724	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10766381	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10766382	0.83[ASN][1000 genomes]
rs10832733	0.84[EUR][1000 genomes]
rs10832736	0.84[EUR][1000 genomes]
rs10832739	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10832743	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10832745	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10832746	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10832747	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10832750	0.85[ASN][1000 genomes]
rs10832752	0.81[ASN][1000 genomes]
rs11024158	0.89[EUR][1000 genomes]
rs11024159	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11024163	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11024204	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11024207	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024208	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024220	0.83[ASN][1000 genomes]
rs11024221	0.83[ASN][1000 genomes]
rs11024223	0.83[ASN][1000 genomes]
rs11024227	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11024229	0.81[ASN][1000 genomes]
rs11024231	0.81[ASN][1000 genomes]
rs1125737	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11821773	0.83[EUR][1000 genomes]
rs12276859	0.83[ASN][1000 genomes]
rs12280930	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12286505	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1236309	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12801545	0.81[EUR][1000 genomes]
rs12804000	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1488933	0.83[ASN][1000 genomes]
rs1685932	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1979603	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1989405	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2052188	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs214081	0.82[ASN][1000 genomes]
rs214082	0.82[ASN][1000 genomes]
rs214083	0.82[ASN][1000 genomes]
rs214084	0.82[ASN][1000 genomes]
rs214088	0.82[ASN][1000 genomes]
rs214092	0.82[ASN][1000 genomes]
rs214093	0.82[ASN][1000 genomes]
rs214094	0.81[ASN][1000 genomes]
rs214097	0.83[ASN][1000 genomes]
rs214099	0.81[ASN][1000 genomes]
rs214102	0.81[ASN][1000 genomes]
rs214900	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs214901	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs214906	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs214907	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs214909	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214910	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214911	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs214912	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214913	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214914	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214915	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214916	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214917	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs214918	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214919	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214920	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214921	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214922	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214923	0.85[ASN][1000 genomes]
rs214925	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs214926	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214927	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs214935	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs214936	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs214937	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs214939	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs214940	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2171615	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35933265	0.81[EUR][1000 genomes]
rs4508187	0.83[ASN][1000 genomes]
rs4509731	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs511119	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs512852	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs527810	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs536628	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs542274	0.81[AFR][1000 genomes]
rs545773	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs550667	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs553711	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs567033	0.86[AFR][1000 genomes]
rs577207	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs589319	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59192183	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs594034	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs598946	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs603618	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61357262	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs615358	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs618331	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61881888	0.86[EUR][1000 genomes]
rs620241	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs621246	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs635802	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6486352	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6486354	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6486358	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs651513	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs656623	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs662711	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs667984	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs677042	0.86[AFR][1000 genomes]
rs677540	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs680205	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7101686	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7108315	0.83[ASN][1000 genomes]
rs7108316	0.88[ASN][1000 genomes]
rs7118006	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7118443	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7123301	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7128822	0.83[ASN][1000 genomes]
rs7342262	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7396382	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7396958	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7478986	0.84[EUR][1000 genomes]
rs7925692	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7935219	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7937176	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7940253	0.88[ASN][1000 genomes]
rs7940418	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7946010	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7949699	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][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	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv975155	chr11:17247352-17252105	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10832748	NUCB2	Cis_1M	lymphoblastoid	RTeQTL
rs10832748	OR7E14P	cis	Nerve Tibial	GTEx
rs10832748	OR7E14P	cis	Esophagus Mucosa	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17233200-17251800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:17244400-17252000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:17244800-17251800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr11:17245200-17251800	Weak transcription	Hela-S3	cervix
5	chr11:17250000-17252200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:17251000-17251800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:17251000-17252000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:17251200-17251800	Enhancers	Lung	lung
9	chr11:17251200-17251800	Enhancers	HUVEC	blood vessel
10	chr11:17251200-17251800	Weak transcription	NHEK	skin
11	chr11:17251200-17252200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:17251400-17251800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:17251400-17251800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr11:17251400-17251800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr11:17251400-17251800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:17251400-17251800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:17251400-17251800	Enhancers	Dnd41	blood
18	chr11:17251600-17251800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:17251600-17251800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr11:17251600-17251800	Enhancers	Adipose Nuclei	Adipose
21	chr11:17251600-17251800	Enhancers	Brain Anterior Caudate	brain
22	chr11:17251600-17251800	Enhancers	Fetal Muscle Leg	muscle
23	chr11:17251600-17251800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr11:17251600-17251800	Enhancers	NHDF-Ad	bronchial
25	chr11:17251600-17252000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:17251600-17252000	Enhancers	Right Atrium	heart
27	chr11:17251600-17252200	Enhancers	Duodenum Mucosa	Duodenum
28	chr11:17251600-17252200	Enhancers	Fetal Thymus	thymus
29	chr11:17251600-17253200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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