Variant report

Variant	rs12250753
Chromosome Location	chr10:91097258-91097259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:91092210..91094053-chr10:91096573..91099425,2	K562	blood:
2	chr10:91087360..91089183-chr10:91097130..91099730,2	MCF-7	breast:
3	chr10:91093291..91095702-chr10:91097071..91099553,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119917	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10159512	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10159516	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10159652	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10159694	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10159869	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10159879	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1041540	1.00[ASN][1000 genomes]
rs11203074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203076	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11203077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203081	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203084	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203085	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203087	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11203088	1.00[ASN][1000 genomes]
rs11203097	1.00[ASN][1000 genomes]
rs12241343	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12242568	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12244506	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12244571	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12245627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12249661	1.00[ASN][1000 genomes]
rs12249707	1.00[ASN][1000 genomes]
rs12250860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12251895	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12256980	0.94[AFR][1000 genomes]
rs12259713	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12259768	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12261273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12263989	1.00[ASN][1000 genomes]
rs12264051	1.00[ASN][1000 genomes]
rs12266581	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12267943	1.00[ASN][1000 genomes]
rs1332332	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332333	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332334	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1332336	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332337	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119665	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119672	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119790	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119791	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2151008	1.00[ASN][1000 genomes]
rs41284140	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41284142	1.00[ASN][1000 genomes]
rs4378299	1.00[ASN][1000 genomes]
rs6586185	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6586186	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6586187	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6586189	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6586190	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6586191	1.00[ASN][1000 genomes]
rs7081163	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7088379	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7091558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7099668	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7099681	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7100115	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367441	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73367444	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367447	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367460	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73368528	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7898580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7901862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902380	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7904924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7906827	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7907230	0.94[AFR][1000 genomes]
rs7907341	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7911396	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7916398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7917725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9663337	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9663529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9663533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv1040375	chr10:91022218-91153074	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv34085	chr10:91065949-91174175	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91088000-91099800	Weak transcription	Gastric	stomach
2	chr10:91090200-91107600	Weak transcription	Pancreas	Pancrea
3	chr10:91093400-91097800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr10:91093400-91100200	Weak transcription	K562	blood
5	chr10:91093400-91100800	Weak transcription	Right Ventricle	heart
6	chr10:91093800-91097400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr10:91093800-91099000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr10:91093800-91106000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:91093800-91106400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr10:91094000-91097400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr10:91094000-91097400	Weak transcription	NHLF	lung
12	chr10:91094000-91098000	Weak transcription	HSMMtube	muscle
13	chr10:91094000-91098200	Weak transcription	HSMM	muscle
14	chr10:91094000-91098400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:91094000-91101000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:91094000-91102000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:91094000-91102200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr10:91094000-91103400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:91094000-91105400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr10:91094000-91110200	Weak transcription	Colonic Mucosa	Colon
21	chr10:91094000-91112000	Weak transcription	Esophagus	oesophagus
22	chr10:91094200-91097400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr10:91094200-91097400	Weak transcription	Aorta	Aorta
24	chr10:91094200-91097400	Enhancers	Brain Angular Gyrus	brain
25	chr10:91094200-91097400	Weak transcription	Fetal Lung	lung
26	chr10:91094200-91097800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr10:91094200-91098000	Weak transcription	Placenta	Placenta
28	chr10:91094200-91098000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr10:91094200-91098000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr10:91094200-91098200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr10:91094200-91098600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr10:91094200-91099200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr10:91094200-91101400	Weak transcription	Osteobl	bone
34	chr10:91094200-91102000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:91094200-91102000	Weak transcription	NHDF-Ad	bronchial
36	chr10:91094200-91103400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr10:91094200-91106800	Weak transcription	Fetal Kidney	kidney
38	chr10:91094200-91108400	Weak transcription	Stomach Mucosa	stomach
39	chr10:91094600-91097400	Weak transcription	Primary B cells from cord blood	blood
40	chr10:91094600-91097400	Weak transcription	Ovary	ovary
41	chr10:91094600-91100800	Weak transcription	Right Atrium	heart
42	chr10:91095000-91097400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr10:91095000-91097400	Weak transcription	Dnd41	blood
44	chr10:91095000-91097800	Enhancers	Primary T cells from cord blood	blood
45	chr10:91095000-91098600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr10:91095200-91098200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr10:91095200-91098200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr10:91095200-91102000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr10:91095200-91110400	Weak transcription	Colon Smooth Muscle	Colon
50	chr10:91095400-91097600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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