Variant report

Variant	rs60549952
Chromosome Location	chr12:33026844-33026845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1046116	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611761	0.87[EUR][1000 genomes]
rs11612954	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615313	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11616075	0.86[EUR][1000 genomes]
rs12099507	0.94[EUR][1000 genomes]
rs17543624	0.86[EUR][1000 genomes]
rs17543896	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2168207	0.94[EUR][1000 genomes]
rs7302979	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313522	0.89[EUR][1000 genomes]
rs73303664	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7963225	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7975559	0.81[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	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	nsv1035900	chr12:33010643-33079667	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv541458	chr12:33010643-33079667	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 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	chr12:32972000-33029000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:32974200-33030400	Weak transcription	Right Ventricle	heart
4	chr12:32993000-33030400	Weak transcription	Colonic Mucosa	Colon
5	chr12:32997800-33044400	Weak transcription	Hela-S3	cervix
6	chr12:32997800-33046000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:33003800-33030400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:33004000-33030400	Weak transcription	Gastric	stomach
9	chr12:33004200-33028800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:33012000-33029000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:33012000-33031000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:33014800-33030400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:33014800-33041200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:33017000-33030400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:33017000-33030600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:33018400-33029200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:33019200-33027400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:33019600-33027200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:33020200-33032600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:33020400-33029600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:33020400-33030600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:33022000-33028400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:33022200-33028200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:33022200-33028800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:33022200-33028800	Weak transcription	Liver	Liver
26	chr12:33022200-33030600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:33022200-33033400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:33022400-33030400	Weak transcription	Pancreas	Pancrea
29	chr12:33022600-33028800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr12:33023000-33030400	Weak transcription	Fetal Stomach	stomach
31	chr12:33023400-33027200	Weak transcription	Right Atrium	heart
32	chr12:33023400-33029600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:33024200-33027000	Weak transcription	NHEK	skin
34	chr12:33024200-33028600	Weak transcription	HMEC	breast
35	chr12:33024800-33028600	Enhancers	Stomach Mucosa	stomach
36	chr12:33024800-33032800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:33025000-33032200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:33025200-33027200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:33025200-33032200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:33025600-33028200	Enhancers	Duodenum Mucosa	Duodenum
41	chr12:33025600-33029000	Enhancers	Fetal Heart	heart
42	chr12:33025800-33027000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:33026000-33027000	Weak transcription	Placenta	Placenta
44	chr12:33026200-33027000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:33026200-33028400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:33026200-33031400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:33026400-33029400	Enhancers	Fetal Intestine Small	intestine
48	chr12:33026400-33029800	Enhancers	Fetal Intestine Large	intestine
49	chr12:33026600-33027000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:33026800-33027000	Enhancers	Fetal Kidney	kidney

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