Variant report

Variant	rs17361357
Chromosome Location	chr12:26146057-26146058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr12:26145803-26146470	SK-N-SH	brain:	n/a	chr12:26146267-26146283 chr12:26146270-26146279

Variant related genes	Relation type
RASSF8	TF binding region

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10505988	1.00[EUR][1000 genomes]
rs11048361	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12298651	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300422	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12301099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12304325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12309877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12312956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315057	1.00[EUR][1000 genomes]
rs12320323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16929675	1.00[EUR][1000 genomes]
rs16929962	1.00[EUR][1000 genomes]
rs17353650	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17460863	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9804938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv522351	chr12:26127230-26149703	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv983482	chr12:26142257-26146356	Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
2	chr12:26131000-26146200	Weak transcription	HSMM	muscle
3	chr12:26132400-26146800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:26134200-26148000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:26134400-26147800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:26138400-26146800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:26139200-26147400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:26139400-26150600	Weak transcription	Brain Angular Gyrus	brain
9	chr12:26139600-26160000	Weak transcription	Pancreas	Pancrea
10	chr12:26139800-26146800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:26140200-26147600	Weak transcription	Ovary	ovary
12	chr12:26141800-26146800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:26142000-26149000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:26142200-26146400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:26142200-26146400	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:26142200-26146400	Weak transcription	Fetal Stomach	stomach
17	chr12:26142200-26155600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:26143800-26147400	Enhancers	Brain Anterior Caudate	brain
19	chr12:26143800-26151200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr12:26143800-26151200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr12:26144000-26151200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr12:26144000-26151600	Enhancers	Colon Smooth Muscle	Colon
23	chr12:26144400-26146200	Enhancers	Left Ventricle	heart
24	chr12:26144400-26146600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:26144400-26148000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr12:26144400-26148200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:26144400-26152200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:26144600-26146600	Enhancers	HMEC	breast
29	chr12:26144600-26147000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:26144600-26148000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:26144800-26146400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:26144800-26147600	Enhancers	NHDF-Ad	bronchial
33	chr12:26145000-26146600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr12:26145000-26146800	Enhancers	Rectal Smooth Muscle	rectum
35	chr12:26145000-26151400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:26145200-26146200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr12:26145200-26147600	Enhancers	NH-A	brain
38	chr12:26145200-26148200	Enhancers	Fetal Lung	lung
39	chr12:26145200-26149600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr12:26145200-26151200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:26145200-26151400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr12:26145200-26152600	Enhancers	Osteobl	bone
43	chr12:26145400-26146200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:26145400-26146200	Enhancers	Lung	lung
45	chr12:26145400-26147200	Weak transcription	HUVEC	blood vessel
46	chr12:26145400-26148200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:26145400-26150400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr12:26145400-26150400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr12:26145400-26150600	Weak transcription	Fetal Heart	heart
50	chr12:26145400-26151000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links