Variant report

Variant	rs10783438
Chromosome Location	chr12:51774653-51774654
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	chr12:51635894..51637427-chr12:51773896..51776536,2	K562	blood:
2	chr12:51773051..51775258-chr12:51776409..51779975,3	K562	blood:

Variant related genes	Relation type
ENSG00000139629	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12578858	1.00[EUR][1000 genomes]
rs12579126	1.00[EUR][1000 genomes]
rs12579841	1.00[EUR][1000 genomes]
rs12580621	1.00[EUR][1000 genomes]
rs12581208	1.00[EUR][1000 genomes]
rs12582216	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs17860267	1.00[EUR][1000 genomes]
rs17860283	1.00[EUR][1000 genomes]
rs17860320	1.00[EUR][1000 genomes]
rs17860337	1.00[EUR][1000 genomes]
rs2067764	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs3741700	1.00[EUR][1000 genomes]
rs3889974	1.00[EUR][1000 genomes]
rs58448629	1.00[EUR][1000 genomes]
rs60044798	1.00[EUR][1000 genomes]
rs61612083	1.00[EUR][1000 genomes]
rs73309782	1.00[EUR][1000 genomes]
rs73309783	1.00[EUR][1000 genomes]
rs73309787	1.00[EUR][1000 genomes]
rs73309789	1.00[EUR][1000 genomes]
rs73309790	1.00[EUR][1000 genomes]
rs73311613	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1038285	chr12:51762953-51916723	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51751200-51783400	Weak transcription	Right Atrium	heart
2	chr12:51753200-51781400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:51763600-51777400	Weak transcription	K562	blood
4	chr12:51764400-51777000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:51765600-51783200	Weak transcription	Esophagus	oesophagus
6	chr12:51765800-51777400	Strong transcription	Duodenum Mucosa	Duodenum
7	chr12:51765800-51781800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:51766000-51775000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:51766000-51777000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:51766000-51777000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:51766200-51775000	Weak transcription	HMEC	breast
12	chr12:51766200-51776600	Strong transcription	Fetal Intestine Small	intestine
13	chr12:51766200-51777400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:51766400-51775200	Weak transcription	Fetal Kidney	kidney
15	chr12:51766400-51775200	Weak transcription	HSMM	muscle
16	chr12:51766400-51781800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:51766600-51775000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:51766800-51775600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:51767000-51775400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:51767200-51778000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:51767200-51778200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:51767400-51777000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:51768000-51775600	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:51768000-51778800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:51768200-51777400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr12:51768400-51775600	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:51768800-51775200	Weak transcription	HSMMtube	muscle
28	chr12:51768800-51775600	Weak transcription	NH-A	brain
29	chr12:51768800-51781800	Weak transcription	Osteobl	bone
30	chr12:51769000-51776200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:51769000-51781400	Weak transcription	Placenta	Placenta
32	chr12:51769400-51775200	Weak transcription	HUVEC	blood vessel
33	chr12:51769400-51775200	Weak transcription	NHDF-Ad	bronchial
34	chr12:51769400-51781400	Weak transcription	Adipose Nuclei	Adipose
35	chr12:51769600-51775400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr12:51770000-51775600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:51770800-51776200	Genic enhancers	Dnd41	blood
38	chr12:51771200-51784400	Weak transcription	Colonic Mucosa	Colon
39	chr12:51771400-51776000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:51771600-51775200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:51771800-51775800	Weak transcription	Brain Anterior Caudate	brain
42	chr12:51771800-51776400	Weak transcription	Brain Angular Gyrus	brain
43	chr12:51772000-51775200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:51772000-51775800	Weak transcription	Fetal Lung	lung
45	chr12:51772000-51777400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:51772400-51775600	Strong transcription	Gastric	stomach
47	chr12:51772400-51785000	Weak transcription	Aorta	Aorta
48	chr12:51772600-51774800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:51772800-51774800	Strong transcription	Primary T cells from cord blood	blood
50	chr12:51773000-51775200	Weak transcription	Stomach Mucosa	stomach

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