Variant report

Variant	rs12435308
Chromosome Location	chr14:35498082-35498083
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35489417..35492128-chr14:35497418..35499039,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10134907	0.81[EUR][1000 genomes]
rs10142861	0.81[EUR][1000 genomes]
rs10146699	0.81[EUR][1000 genomes]
rs11156871	0.81[EUR][1000 genomes]
rs11540758	0.81[EUR][1000 genomes]
rs13379372	0.81[EUR][1000 genomes]
rs17102962	0.81[EUR][1000 genomes]
rs2383693	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2415257	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs28535942	0.81[EUR][1000 genomes]
rs28577270	0.81[EUR][1000 genomes]
rs28589276	0.81[EUR][1000 genomes]
rs45531432	0.81[EUR][1000 genomes]
rs4981258	0.80[CEU][hapmap]
rs4982234	0.80[CEU][hapmap]
rs731906	0.81[CEU][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv901602	chr14:35367889-35571651	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
6	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv901605	chr14:35409214-35512335	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv901606	chr14:35449467-35512335	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv901607	chr14:35449467-35540764	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
10	nsv901608	chr14:35449467-35571651	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
11	nsv901609	chr14:35449467-35587767	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv456204	chr14:35466584-35556498	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv564263	chr14:35466584-35556498	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv901610	chr14:35470049-35509571	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv901611	chr14:35470049-35540764	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv901612	chr14:35470049-35571651	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv901613	chr14:35470049-35587767	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv1239	chr14:35477657-35522987	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	nsv564264	chr14:35482797-35732369	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
20	nsv901614	chr14:35485748-35571651	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers 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 target site	27 gene(s)	inside rSNPs	diseases
21	nsv901615	chr14:35485748-35630175	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
22	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
23	nsv1043801	chr14:35493065-35539399	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12435308	SRP54	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35453800-35499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:35454400-35509800	Weak transcription	Psoas Muscle	Psoas
3	chr14:35465200-35500600	Strong transcription	HepG2	liver
4	chr14:35465600-35500200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:35466000-35501400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:35466000-35503800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:35466200-35500600	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr14:35466400-35498200	Weak transcription	Spleen	Spleen
9	chr14:35466600-35502000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:35466800-35502800	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr14:35467600-35503600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr14:35468600-35501600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:35470600-35502600	Strong transcription	Liver	Liver
14	chr14:35471800-35501600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:35473400-35501800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:35474200-35501400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr14:35474400-35503400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:35475800-35500200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:35475800-35503200	Strong transcription	Adipose Nuclei	Adipose
20	chr14:35477000-35499000	Strong transcription	Placenta	Placenta
21	chr14:35477000-35502800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:35477200-35499000	Strong transcription	Osteobl	bone
23	chr14:35477200-35502200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr14:35477200-35502800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr14:35477200-35502800	Strong transcription	Duodenum Mucosa	Duodenum
26	chr14:35477400-35502400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:35480000-35503200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:35480400-35504000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:35481400-35498800	Strong transcription	GM12878-XiMat	blood
30	chr14:35481600-35501200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:35481600-35502400	Strong transcription	Dnd41	blood
32	chr14:35482200-35501000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:35482800-35503200	Weak transcription	Stomach Mucosa	stomach
34	chr14:35483800-35498200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr14:35483800-35501200	Strong transcription	Fetal Intestine Large	intestine
36	chr14:35484600-35498800	Strong transcription	NH-A	brain
37	chr14:35485800-35501800	Weak transcription	Esophagus	oesophagus
38	chr14:35485800-35503200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr14:35485800-35514800	Weak transcription	Right Ventricle	heart
40	chr14:35488400-35502400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr14:35488600-35514200	Weak transcription	Small Intestine	intestine
42	chr14:35489000-35501200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr14:35489000-35502400	Weak transcription	NHEK	skin
44	chr14:35489000-35507200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr14:35489800-35500800	Strong transcription	Fetal Thymus	thymus
46	chr14:35490200-35502600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr14:35490200-35514600	Weak transcription	NHLF	lung
48	chr14:35490600-35498600	Weak transcription	Hela-S3	cervix
49	chr14:35490600-35502000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr14:35490600-35502200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links