Variant report

Variant	rs17543513
Chromosome Location	chr12:32996767-32996768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12099850	1.00[CEU][hapmap]
rs16920297	1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17543568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17543736	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17621317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28588399	1.00[ASN][1000 genomes]
rs55789406	0.89[AMR][1000 genomes]
rs56009691	1.00[ASN][1000 genomes]
rs56033839	0.89[AMR][1000 genomes]
rs56085447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969426	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs994713	1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	chr12:32949200-33007800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:32972000-33029000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:32974200-33030400	Weak transcription	Right Ventricle	heart
6	chr12:32974600-33004400	Weak transcription	Ovary	ovary
7	chr12:32975800-33020000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:32989000-32998200	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr12:32990600-32997200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:32991200-32997000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:32991800-32996800	Strong transcription	NHEK	skin
12	chr12:32992000-33007200	Weak transcription	Stomach Mucosa	stomach
13	chr12:32993000-33000000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:32993000-33002200	Weak transcription	Gastric	stomach
15	chr12:32993000-33030400	Weak transcription	Colonic Mucosa	Colon
16	chr12:32993400-33013600	Weak transcription	Pancreas	Pancrea
17	chr12:32993600-32999000	Weak transcription	HepG2	liver
18	chr12:32993800-33002200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:32993800-33018000	Weak transcription	Fetal Stomach	stomach
20	chr12:32994200-32999000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:32994200-33002600	Weak transcription	Placenta	Placenta
22	chr12:32994800-33000400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:32995000-32999000	Weak transcription	Liver	Liver
24	chr12:32995200-32999200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:32995200-32999400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:32995200-32999600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:32996200-32996800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr12:32996200-32996800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:32996200-32997200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr12:32996200-32997200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr12:32996200-32997200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr12:32996200-32997400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr12:32996200-32997600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:32996200-32997600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr12:32996200-32997800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:32996200-32997800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr12:32996200-32997800	Enhancers	Fetal Intestine Small	intestine
38	chr12:32996200-32999200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:32996400-32996800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr12:32996400-32996800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr12:32996400-32996800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr12:32996400-32996800	Enhancers	Fetal Heart	heart
43	chr12:32996400-32996800	Enhancers	Fetal Lung	lung
44	chr12:32996400-32997000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:32996400-32997200	Enhancers	Fetal Intestine Large	intestine
46	chr12:32996400-32997800	Enhancers	Hela-S3	cervix
47	chr12:32996400-33005800	Weak transcription	Left Ventricle	heart
48	chr12:32996600-32996800	Enhancers	HMEC	breast
49	chr12:32996600-32997000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:32996600-32997000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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