Variant report

Variant	rs73301801
Chromosome Location	chr12:32973620-32973621
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11615932	0.90[AFR][1000 genomes]
rs1454931	0.83[AFR][1000 genomes]
rs56686514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58332051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59521087	0.86[AFR][1000 genomes]
rs61669309	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299928	0.83[AFR][1000 genomes]
rs73299935	0.83[AFR][1000 genomes]
rs73299937	0.83[AFR][1000 genomes]
rs73299944	0.83[AFR][1000 genomes]
rs73299947	0.83[AFR][1000 genomes]
rs73301713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv532334	chr12:32884789-33034791	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv531961	chr12:32966192-32997952	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32941800-33033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:32943800-33026800	Weak transcription	Fetal Kidney	kidney
3	chr12:32944200-32989400	Weak transcription	Hela-S3	cervix
4	chr12:32949200-32975200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:32949200-32987000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:32949200-33007800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:32961000-32989800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:32961800-32974800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:32962200-32974000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:32963000-32986800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:32965000-32977800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:32965000-32996200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:32966600-32977800	Strong transcription	Duodenum Mucosa	Duodenum
14	chr12:32967000-32977800	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr12:32967000-32979000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr12:32968400-32977400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:32970400-32977600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:32970600-32975200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:32970800-32978600	Weak transcription	Small Intestine	intestine
20	chr12:32971200-32981400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:32971400-32976600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:32971600-32974000	Strong transcription	HMEC	breast
23	chr12:32971800-32974000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:32972000-33029000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:32972400-32977600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:32972600-32973800	Enhancers	Fetal Brain Male	brain
27	chr12:32972600-32974000	Strong transcription	Placenta	Placenta
28	chr12:32972600-32974200	Flanking Active TSS	Fetal Heart	heart
29	chr12:32972600-32974600	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:32972600-32975000	Strong transcription	NHEK	skin
31	chr12:32972600-32977600	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:32972600-32977600	Strong transcription	Fetal Intestine Large	intestine
33	chr12:32972600-32978600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr12:32972800-32974800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:32972800-32977600	Strong transcription	HepG2	liver
36	chr12:32973000-32976400	Strong transcription	Liver	Liver
37	chr12:32973000-32989600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:32973200-32976200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr12:32973400-32974200	Transcr. at gene 5' and 3'	Left Ventricle	heart
40	chr12:32973400-32974400	Strong transcription	Pancreas	Pancrea
41	chr12:32973400-32974400	Active TSS	Right Atrium	heart
42	chr12:32973400-32974600	Strong transcription	Colonic Mucosa	Colon
43	chr12:32973400-32974600	Strong transcription	Gastric	stomach
44	chr12:32973400-32975800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:32973400-32976000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:32973400-32976200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:32973600-32973800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:32973600-32974200	Active TSS	Right Ventricle	heart
49	chr12:32973600-32974400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:32973600-32974600	Strong transcription	H1 Cell Line	embryonic stem cell

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