Variant report

Variant	rs73082690
Chromosome Location	chr12:21641047-21641048
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	chr12:21638799..21641381-chr12:21653753..21657236,3	K562	blood:
2	chr12:21628982..21633807-chr12:21637504..21641052,4	K562	blood:

Variant related genes	Relation type
ENSG00000004700	Chromatin interaction
ENSG00000111711	Chromatin interaction

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

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

rs_ID	r²[population]
rs11831978	0.94[EUR][1000 genomes]
rs11836710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080102	0.82[EUR][1000 genomes]
rs2080103	0.82[EUR][1000 genomes]
rs2080104	0.82[EUR][1000 genomes]
rs2417993	0.82[EUR][1000 genomes]
rs36230524	0.82[EUR][1000 genomes]
rs56256037	0.82[EUR][1000 genomes]
rs73071364	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071368	0.94[EUR][1000 genomes]
rs73071369	0.94[EUR][1000 genomes]
rs73071373	0.94[EUR][1000 genomes]
rs73071376	0.94[EUR][1000 genomes]
rs73071386	0.94[EUR][1000 genomes]
rs73071402	0.82[EUR][1000 genomes]
rs73079372	0.82[EUR][1000 genomes]
rs73079387	0.82[EUR][1000 genomes]
rs73079391	0.82[EUR][1000 genomes]
rs73079397	0.82[EUR][1000 genomes]
rs73079401	0.82[EUR][1000 genomes]
rs73082674	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1054220	chr12:21612158-21692103	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1036084	chr12:21631009-21792756	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21595800-21650000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:21607000-21645800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:21611000-21652800	Weak transcription	Small Intestine	intestine
4	chr12:21611000-21653600	Weak transcription	Esophagus	oesophagus
5	chr12:21614800-21652800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:21617000-21653000	Weak transcription	Colonic Mucosa	Colon
7	chr12:21619800-21652200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:21619800-21652400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:21619800-21652400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:21620200-21652600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:21620600-21652200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr12:21623200-21649400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:21628200-21649200	Weak transcription	HepG2	liver
14	chr12:21630400-21652000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:21630400-21652400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:21632000-21649000	Weak transcription	Psoas Muscle	Psoas
17	chr12:21632600-21646800	Weak transcription	Fetal Intestine Small	intestine
18	chr12:21633600-21642000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:21633800-21641800	Weak transcription	NHEK	skin
20	chr12:21633800-21642000	Weak transcription	Brain Substantia Nigra	brain
21	chr12:21633800-21645400	Weak transcription	Gastric	stomach
22	chr12:21633800-21645600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:21633800-21645600	Weak transcription	Fetal Stomach	stomach
24	chr12:21633800-21645600	Weak transcription	Right Ventricle	heart
25	chr12:21633800-21647000	Weak transcription	Pancreas	Pancrea
26	chr12:21633800-21647000	Weak transcription	Spleen	Spleen
27	chr12:21633800-21647400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:21633800-21648600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:21634000-21642000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:21634200-21649000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:21635200-21646200	Weak transcription	Fetal Kidney	kidney
32	chr12:21635600-21641800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:21635600-21642400	Weak transcription	Lung	lung
34	chr12:21635600-21649000	Weak transcription	Aorta	Aorta
35	chr12:21635800-21645400	Weak transcription	Brain Germinal Matrix	brain
36	chr12:21635800-21645400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr12:21635800-21647000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:21635800-21647000	Weak transcription	Hela-S3	cervix
39	chr12:21636000-21647600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:21636000-21649600	Weak transcription	Fetal Brain Male	brain
41	chr12:21636200-21641200	Weak transcription	HMEC	breast
42	chr12:21636200-21642000	Weak transcription	Thymus	Thymus
43	chr12:21636200-21652800	Weak transcription	K562	blood
44	chr12:21636400-21641400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:21636400-21641800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:21636400-21642000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:21636400-21642000	Weak transcription	HSMMtube	muscle
48	chr12:21636400-21653400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:21636400-21653800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr12:21636600-21641200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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