Variant report

Variant	rs10783766
Chromosome Location	chr12:56039977-56039978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56039945..56040469-chr17:56756459..56757101,2	HCT-116	colon:
2	chr12:56037529..56040108-chr12:56117252..56119317,2	K562	blood:
3	chr12:55552029..55554252-chr12:56038940..56041614,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200997	Chromatin interaction
ENSG00000224622	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10783765	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs10876840	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10876842	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs10876843	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11171634	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12300595	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1526419	0.91[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1534230	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1534231	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1534232	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3953272	0.82[ASN][1000 genomes]
rs4759176	0.88[YRI][hapmap]
rs7133243	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7139287	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7304449	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559001	chr12:55507465-56057708	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv948625	chr12:55838718-56118833	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56032800-56040000	Weak transcription	Right Atrium	heart
2	chr12:56033800-56041400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:56035400-56040200	Weak transcription	Gastric	stomach
4	chr12:56035600-56040200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:56037000-56040000	Weak transcription	Placenta	Placenta
6	chr12:56037200-56040000	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:56037200-56040200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:56037400-56040000	Weak transcription	Spleen	Spleen
9	chr12:56037400-56040200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:56039200-56040200	Enhancers	GM12878-XiMat	blood
11	chr12:56039200-56040600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:56039200-56040600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr12:56039200-56041200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr12:56039400-56040000	Enhancers	Stomach Smooth Muscle	stomach
15	chr12:56039400-56040200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:56039600-56040000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:56039600-56040200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:56039800-56040000	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr12:56039800-56040000	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr12:56039800-56040000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr12:56039800-56040000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr12:56039800-56040000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:56039800-56040000	Flanking Active TSS	Liver	Liver
24	chr12:56039800-56040000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr12:56039800-56040000	Enhancers	Pancreas	Pancrea
26	chr12:56039800-56040000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr12:56039800-56040200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:56039800-56040200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr12:56039800-56040200	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr12:56039800-56040200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr12:56039800-56040200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:56039800-56040200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:56039800-56040200	Active TSS	Adipose Nuclei	Adipose
34	chr12:56039800-56040200	Active TSS	Duodenum Mucosa	Duodenum
35	chr12:56039800-56040200	Enhancers	Fetal Muscle Leg	muscle
36	chr12:56039800-56040200	Active TSS	Left Ventricle	heart
37	chr12:56039800-56040200	Active TSS	K562	blood
38	chr12:56039800-56040400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:56039800-56040400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:56039800-56040400	Enhancers	Primary T cells from cord blood	blood
41	chr12:56039800-56040400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:56039800-56040400	Active TSS	Colonic Mucosa	Colon
43	chr12:56039800-56040400	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr12:56039800-56040600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr12:56039800-56040600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr12:56039800-56040600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:56039800-56040600	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr12:56039800-56040600	Active TSS	Osteobl	bone
49	chr12:56039800-56040800	Enhancers	Fetal Thymus	thymus
50	chr12:56039800-56041200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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