Variant report

Variant	rs10783219
Chromosome Location	chr12:48295488-48295489
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48293420..48296418-chr12:48372974..48374777,2	K562	blood:
2	chr12:48295052..48296721-chr12:48395942..48397721,2	MCF-7	breast:
3	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
4	chr12:48244275..48246412-chr12:48294986..48297524,2	MCF-7	breast:
5	chr12:48294511..48296971-chr12:48414193..48417151,2	MCF-7	breast:
6	chr12:48276120..48279378-chr12:48295337..48299363,4	MCF-7	breast:
7	chr12:48270125..48272257-chr12:48295028..48297755,2	MCF-7	breast:
8	chr12:48254834..48256905-chr12:48293937..48296372,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction
ENSG00000205537	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10083198	0.89[ASN][1000 genomes]
rs10747527	0.95[CHB][hapmap];0.85[AMR][1000 genomes]
rs10783221	0.86[CHB][hapmap]
rs10875699	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11568820	0.83[JPT][hapmap]
rs12304110	0.86[ASN][1000 genomes]
rs4237855	0.85[EUR][1000 genomes]
rs4578458	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4578459	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4760603	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4760655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4760669	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4760670	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4760672	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6580644	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6580645	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7132324	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7299460	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7312286	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7965397	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7970314	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48262000-48296800	Weak transcription	Aorta	Aorta
2	chr12:48286800-48298000	Weak transcription	Right Atrium	heart
3	chr12:48290800-48296400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:48290800-48297400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:48291000-48297000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:48291400-48297000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:48293000-48296800	Enhancers	Fetal Intestine Large	intestine
8	chr12:48293000-48297200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr12:48293200-48295800	Enhancers	Primary T cells from cord blood	blood
10	chr12:48293200-48297000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:48293200-48297400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:48293200-48297400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:48293200-48297400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:48293200-48297600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:48293400-48296400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:48293400-48296400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:48293400-48297200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:48293400-48297400	Enhancers	Esophagus	oesophagus
19	chr12:48293400-48297600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:48293400-48297600	Enhancers	Lung	lung
21	chr12:48293400-48297800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr12:48293400-48297800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:48293400-48298200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr12:48293400-48298400	Enhancers	Gastric	stomach
25	chr12:48293400-48298400	Enhancers	Stomach Mucosa	stomach
26	chr12:48293600-48296600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:48293600-48297000	Enhancers	Primary B cells from cord blood	blood
28	chr12:48293600-48297200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr12:48293600-48297400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr12:48293600-48297800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:48293600-48297800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr12:48293800-48295600	Enhancers	GM12878-XiMat	blood
33	chr12:48293800-48296800	Enhancers	Primary hematopoietic stem cells	blood
34	chr12:48293800-48297000	Weak transcription	Small Intestine	intestine
35	chr12:48294000-48296000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:48294000-48297200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr12:48294200-48296000	Enhancers	Osteobl	bone
38	chr12:48294200-48296200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:48294200-48296400	Enhancers	NHDF-Ad	bronchial
40	chr12:48294200-48296600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr12:48294200-48296800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
42	chr12:48294200-48296800	Enhancers	Hela-S3	cervix
43	chr12:48294200-48298800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr12:48294400-48295600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:48294400-48295600	Enhancers	HSMMtube	muscle
46	chr12:48294400-48296000	Flanking Active TSS	Colonic Mucosa	Colon
47	chr12:48294400-48297000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:48294400-48298200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr12:48294400-48299000	Enhancers	Spleen	Spleen
50	chr12:48294600-48295600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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