Variant report

Variant	rs35263570
Chromosome Location	chr12:33044291-33044292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:33041897..33044565-chr12:33740312..33741870,2	K562	blood:
2	chr12:33044053..33044876-chr12:33059435..33060276,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs11615523	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425499	0.81[ASN][1000 genomes]
rs12821328	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12824411	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826797	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35389088	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35991895	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931657	1.00[ASN][1000 genomes]
rs61927260	0.81[ASN][1000 genomes]
rs61927261	0.81[ASN][1000 genomes]
rs6488099	0.88[ASN][1000 genomes]
rs7302851	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090787	0.81[ASN][1000 genomes]
rs73090789	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090802	0.81[ASN][1000 genomes]
rs73092408	0.81[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	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
4	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32997800-33044400	Weak transcription	Hela-S3	cervix
2	chr12:32997800-33046000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:33031600-33044600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:33032800-33044400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:33032800-33045000	Weak transcription	Colonic Mucosa	Colon
6	chr12:33033600-33044600	Weak transcription	Right Atrium	heart
7	chr12:33034000-33044600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:33035000-33047400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:33036600-33045000	Weak transcription	Liver	Liver
10	chr12:33039000-33047600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:33039200-33044600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:33039200-33044600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:33039400-33044400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:33039800-33044400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:33040000-33044600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:33040000-33044600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:33042200-33044600	Weak transcription	Left Ventricle	heart
18	chr12:33042400-33044400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:33042400-33046000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:33042600-33044400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:33042600-33046000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:33042800-33044400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:33042800-33044400	Weak transcription	HepG2	liver
24	chr12:33042800-33048400	Weak transcription	Pancreas	Pancrea
25	chr12:33043000-33044600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:33043000-33044800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:33043000-33044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:33043200-33044400	Weak transcription	Fetal Heart	heart
29	chr12:33043400-33044600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:33043600-33046000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:33043800-33044800	Weak transcription	Placenta	Placenta
32	chr12:33044000-33044600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr12:33044000-33044600	Enhancers	HMEC	breast
34	chr12:33044000-33044600	Enhancers	NHEK	skin
35	chr12:33044000-33044800	Enhancers	Primary T cells from cord blood	blood
36	chr12:33044000-33045400	Enhancers	Stomach Mucosa	stomach
37	chr12:33044000-33045800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr12:33044000-33046200	Enhancers	HUVEC	blood vessel
39	chr12:33044000-33047600	Enhancers	Fetal Intestine Small	intestine
40	chr12:33044000-33048200	Enhancers	Fetal Intestine Large	intestine
41	chr12:33044200-33044800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:33044200-33044800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr12:33044200-33044800	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr12:33044200-33047600	Enhancers	Primary neutrophils fromperipheralblood	blood

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