Variant report

Variant	rs12260063
Chromosome Location	chr10:96292988-96292989
allele	A/T
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	MAFK	chr10:96292804-96293153	IMR90	lung:	n/a	chr10:96292974-96292989
2	MAFK	chr10:96292832-96293127	Hela-S3	cervix:	n/a	chr10:96292974-96292989
3	MAFK	chr10:96292835-96293118	K562	blood:	n/a	chr10:96292974-96292989
4	MAFK	chr10:96292802-96293167	HepG2	liver:	n/a	chr10:96292974-96292989
5	MAFF	chr10:96292832-96293126	K562	blood:	n/a	chr10:96292972-96292990
6	MAFF	chr10:96292807-96293151	HepG2	liver:	n/a	chr10:96292972-96292990
7	MAFK	chr10:96292807-96293141	HepG2	liver:	n/a	chr10:96292974-96292989

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:96290006..96295152-chr10:96302633..96306565,5	K562	blood:
2	chr10:96291317..96293479-chr10:96310329..96311938,2	K562	blood:

Variant related genes	Relation type
TBC1D12	TF binding region
ENSG00000119969	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1047625	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10509673	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10509675	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1065026	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882479	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882493	1.00[ASN][1000 genomes]
rs11187919	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187921	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187999	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188055	1.00[ASN][1000 genomes]
rs11188067	1.00[ASN][1000 genomes]
rs11591641	1.00[ASN][1000 genomes]
rs11815200	1.00[ASN][1000 genomes]
rs12243416	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12246393	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12248434	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12249418	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12262606	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12263131	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12268719	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12269412	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12771899	1.00[ASN][1000 genomes]
rs12785061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12785155	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1334596	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2209671	1.00[ASN][1000 genomes]
rs2296683	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34122982	0.86[EUR][1000 genomes]
rs35695457	1.00[ASN][1000 genomes]
rs35891778	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7077277	1.00[ASN][1000 genomes]
rs7099637	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7898763	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7904979	1.00[ASN][1000 genomes]
rs7911131	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7918101	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9733708	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1053747	chr10:96211618-96366396	Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96223200-96293600	Weak transcription	NHDF-Ad	bronchial
2	chr10:96244400-96304600	Weak transcription	Aorta	Aorta
3	chr10:96250800-96294000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr10:96250800-96297400	Weak transcription	Small Intestine	intestine
5	chr10:96257000-96293400	Weak transcription	HepG2	liver
6	chr10:96261000-96304400	Weak transcription	NH-A	brain
7	chr10:96264200-96296800	Weak transcription	Brain Germinal Matrix	brain
8	chr10:96266000-96304600	Weak transcription	Fetal Kidney	kidney
9	chr10:96267400-96303800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr10:96268400-96304400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr10:96268800-96297200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:96268800-96304400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:96270200-96304200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:96271800-96294000	Weak transcription	Psoas Muscle	Psoas
15	chr10:96271800-96304000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:96272000-96294000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:96272000-96304600	Weak transcription	HSMMtube	muscle
18	chr10:96272200-96295800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr10:96272400-96293000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:96272600-96293400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr10:96273600-96294000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr10:96274400-96304000	Weak transcription	Stomach Mucosa	stomach
23	chr10:96274400-96304400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr10:96274600-96304000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:96277200-96294000	Weak transcription	Left Ventricle	heart
26	chr10:96279600-96297200	Weak transcription	Spleen	Spleen
27	chr10:96280400-96304800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr10:96281400-96294000	Weak transcription	Brain Angular Gyrus	brain
29	chr10:96281400-96294600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr10:96281600-96293600	Weak transcription	Brain Anterior Caudate	brain
31	chr10:96281800-96296800	Weak transcription	Fetal Brain Female	brain
32	chr10:96282000-96293800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr10:96282200-96304200	Weak transcription	Colonic Mucosa	Colon
34	chr10:96284000-96293600	Weak transcription	Brain Substantia Nigra	brain
35	chr10:96284000-96304200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr10:96284000-96304400	Weak transcription	Osteobl	bone
37	chr10:96284200-96294000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr10:96284200-96297200	Weak transcription	Pancreas	Pancrea
39	chr10:96284200-96299200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr10:96284200-96304400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr10:96284200-96304400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr10:96284800-96294000	Weak transcription	Fetal Muscle Leg	muscle
43	chr10:96284800-96294600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr10:96285000-96294200	Weak transcription	Ovary	ovary
45	chr10:96286000-96293400	Weak transcription	Placenta	Placenta
46	chr10:96286200-96303800	Weak transcription	Lung	lung
47	chr10:96286200-96304800	Weak transcription	Esophagus	oesophagus
48	chr10:96286400-96293400	Weak transcription	Fetal Lung	lung
49	chr10:96286600-96294000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr10:96288600-96304400	Weak transcription	NHLF	lung

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