Variant report

Variant	rs12251895
Chromosome Location	chr10:91100184-91100185
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91098435..91101056-chr10:91103383..91106129,3	K562	blood:
2	chr10:91097289..91100504-chr10:91101597..91104556,3	K562	blood:

Variant related genes	Relation type
ENSG00000107798	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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10159516	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10159652	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10159694	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10159869	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10159879	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1041540	1.00[ASN][1000 genomes]
rs11203074	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203075	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203076	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11203077	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203087	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11203088	1.00[ASN][1000 genomes]
rs11203097	1.00[ASN][1000 genomes]
rs12241343	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12242568	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12244506	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12244571	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12245627	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12249661	1.00[ASN][1000 genomes]
rs12249707	1.00[ASN][1000 genomes]
rs12250753	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12250860	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12256980	0.86[AFR][1000 genomes]
rs12259713	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12259768	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12261273	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12263989	1.00[ASN][1000 genomes]
rs12264051	1.00[ASN][1000 genomes]
rs12266581	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12267943	1.00[ASN][1000 genomes]
rs1332332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332334	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1332336	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119593	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119665	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2151008	1.00[ASN][1000 genomes]
rs41284140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41284142	1.00[ASN][1000 genomes]
rs4378299	1.00[ASN][1000 genomes]
rs6586185	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6586186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6586187	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6586189	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6586190	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6586191	1.00[ASN][1000 genomes]
rs7081163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7088379	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7091558	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7099668	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7099681	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7100115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367441	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73367444	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367447	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367460	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73368528	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7898580	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7901862	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902096	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902109	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902380	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7904924	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7906827	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7907230	0.86[AFR][1000 genomes]
rs7907341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7911396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7916398	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7917725	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9663337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9663529	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9663533	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91090200-91107600	Weak transcription	Pancreas	Pancrea
2	chr10:91093400-91100200	Weak transcription	K562	blood
3	chr10:91093400-91100800	Weak transcription	Right Ventricle	heart
4	chr10:91093800-91106000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:91093800-91106400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr10:91094000-91101000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:91094000-91102000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:91094000-91102200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:91094000-91103400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:91094000-91105400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr10:91094000-91110200	Weak transcription	Colonic Mucosa	Colon
12	chr10:91094000-91112000	Weak transcription	Esophagus	oesophagus
13	chr10:91094200-91101400	Weak transcription	Osteobl	bone
14	chr10:91094200-91102000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:91094200-91102000	Weak transcription	NHDF-Ad	bronchial
16	chr10:91094200-91103400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr10:91094200-91106800	Weak transcription	Fetal Kidney	kidney
18	chr10:91094200-91108400	Weak transcription	Stomach Mucosa	stomach
19	chr10:91094600-91100800	Weak transcription	Right Atrium	heart
20	chr10:91095200-91102000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:91095200-91110400	Weak transcription	Colon Smooth Muscle	Colon
22	chr10:91095600-91105600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr10:91096200-91100400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:91096200-91100400	Weak transcription	Thymus	Thymus
25	chr10:91096200-91100800	Strong transcription	Fetal Muscle Leg	muscle
26	chr10:91096200-91101200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr10:91096400-91100200	Strong transcription	Liver	Liver
28	chr10:91096600-91101200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:91096600-91101200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:91096600-91101200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr10:91096600-91101200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr10:91096600-91101400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr10:91096800-91100200	Strong transcription	Fetal Stomach	stomach
34	chr10:91097200-91101200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr10:91097400-91100600	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr10:91097400-91100800	Strong transcription	Fetal Lung	lung
37	chr10:91097400-91101200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr10:91097400-91101200	Strong transcription	Ovary	ovary
39	chr10:91097400-91105600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr10:91097600-91101000	Strong transcription	Lung	lung
41	chr10:91097600-91101800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr10:91097600-91102000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:91097600-91102000	Weak transcription	NH-A	brain
44	chr10:91097600-91102200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr10:91097600-91102800	Strong transcription	GM12878-XiMat	blood
46	chr10:91097600-91106200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr10:91097600-91106200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:91097600-91107400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr10:91097600-91107400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:91097800-91101000	Weak transcription	Primary T cells from cord blood	blood

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