Variant report

Variant	rs73281306
Chromosome Location	chr12:45622575-45622576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45608270..45616533-chr12:45619913..45631094,20	MCF-7	breast:
2	chr12:45622554..45624408-chr12:45673462..45676280,2	K562	blood:
3	chr12:45608098..45612348-chr12:45617340..45626325,10	K562	blood:
4	chr12:45620175..45623009-chr12:45625833..45628056,2	MCF-7	breast:
5	chr12:45616751..45618996-chr12:45620407..45623047,2	K562	blood:
6	chr12:45610131..45611639-chr12:45621974..45623709,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177119	Chromatin interaction
ENSG00000134297	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs57266792	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57314223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57732899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59569841	1.00[AMR][1000 genomes]
rs60840825	1.00[AMR][1000 genomes]
rs73275006	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275009	1.00[AMR][1000 genomes]
rs73275021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279279	1.00[AMR][1000 genomes]
rs73279288	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279290	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279302	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279680	1.00[AMR][1000 genomes]
rs73279683	1.00[AMR][1000 genomes]
rs73281407	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281412	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281425	1.00[AMR][1000 genomes]
rs73281431	1.00[AMR][1000 genomes]
rs73281450	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281453	1.00[AMR][1000 genomes]
rs73281454	1.00[AMR][1000 genomes]
rs73293360	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293363	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293366	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293377	0.96[AFR][1000 genomes];1.00[AMR][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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr12:45611000-45624800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:45611200-45628000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:45611600-45629400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:45611800-45624800	Weak transcription	HSMM	muscle
5	chr12:45612400-45624800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:45612400-45624800	Weak transcription	Osteobl	bone
7	chr12:45612400-45628000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:45613800-45624200	Weak transcription	HUVEC	blood vessel
9	chr12:45613800-45625000	Weak transcription	NHLF	lung
10	chr12:45613800-45625600	Weak transcription	Right Ventricle	heart
11	chr12:45613800-45628400	Weak transcription	Lung	lung
12	chr12:45613800-45628800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:45613800-45635800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr12:45613800-45638000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:45613800-45638200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:45614000-45624600	Weak transcription	NHDF-Ad	bronchial
17	chr12:45614000-45625200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr12:45614000-45625400	Weak transcription	Brain Substantia Nigra	brain
19	chr12:45614000-45626400	Weak transcription	Left Ventricle	heart
20	chr12:45614000-45627600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:45614000-45637600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:45614200-45625000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:45614200-45625000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:45614400-45624800	Weak transcription	HepG2	liver
25	chr12:45614400-45624800	Weak transcription	NH-A	brain
26	chr12:45614400-45628800	Weak transcription	Spleen	Spleen
27	chr12:45614400-45629000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr12:45614400-45639600	Weak transcription	Dnd41	blood
29	chr12:45614400-45650200	Weak transcription	Primary T cells from cord blood	blood
30	chr12:45614600-45625000	Weak transcription	Hela-S3	cervix
31	chr12:45614800-45622600	Weak transcription	Fetal Stomach	stomach
32	chr12:45614800-45627400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:45614800-45629000	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:45615000-45625400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:45615000-45628400	Weak transcription	Esophagus	oesophagus
36	chr12:45615200-45624800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:45615200-45624800	Weak transcription	HMEC	breast
38	chr12:45615200-45625200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:45615200-45625200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:45615200-45625200	Weak transcription	Fetal Lung	lung
41	chr12:45615600-45625000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:45615600-45625600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:45617000-45628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:45617400-45625000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:45617800-45625200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:45618000-45626400	Weak transcription	Placenta	Placenta
47	chr12:45618000-45628000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr12:45618200-45625400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:45618200-45627400	Weak transcription	Liver	Liver
50	chr12:45618800-45624600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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