Variant report

Variant	rs12437439
Chromosome Location	chr14:35585669-35585670
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35585231..35589339-chr14:35589469..35593386,5	K562	blood:
2	chr14:35583719..35588379-chr14:35588655..35591956,6	MCF-7	breast:
3	chr14:35583308..35588876-chr14:35589178..35593731,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100890	Chromatin interaction
ENSG00000092020	Chromatin interaction
ENSG00000258790	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10130509	0.83[ASN][1000 genomes]
rs10134907	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10142861	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10145433	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10145723	0.82[ASN][1000 genomes]
rs10146699	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10148691	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11156871	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11540758	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12434485	0.87[EUR][1000 genomes]
rs12435454	0.83[ASN][1000 genomes]
rs12588810	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12590678	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13379372	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17091786	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17102962	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17103042	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2038254	0.82[ASN][1000 genomes]
rs2254990	0.83[ASN][1000 genomes]
rs2295103	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2295104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2383693	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2415257	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28395170	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28404080	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28535942	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28569331	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28577270	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28589276	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28618323	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28870452	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3809448	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs45531432	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4982234	0.81[ASN][1000 genomes]
rs4982235	0.83[ASN][1000 genomes]
rs4982236	0.83[ASN][1000 genomes]
rs58320987	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60854116	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61191004	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7147571	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs731906	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8020370	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8021414	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv1052800	chr14:35509858-35607117	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers 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	37 gene(s)	inside rSNPs	diseases
10	nsv1044515	chr14:35510785-35756317	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS 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	42 gene(s)	inside rSNPs	diseases
11	nsv564265	chr14:35512335-35624831	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic 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 miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv1046992	chr14:35527239-35724227	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv1051274	chr14:35529529-35724227	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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
14	nsv1048823	chr14:35537281-35724892	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv542032	chr14:35537281-35724892	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
16	nsv1040540	chr14:35537481-35724753	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats 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	nsv542033	chr14:35537481-35724753	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats 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
18	nsv1042625	chr14:35546094-35680358	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
19	nsv1050123	chr14:35546114-35724892	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers 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	27 gene(s)	inside rSNPs	diseases
20	nsv542034	chr14:35546114-35724892	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS 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	nsv1050700	chr14:35548276-35639084	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
22	nsv1043692	chr14:35548276-35720016	Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers 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
23	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
24	nsv542035	chr14:35563220-35607117	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
25	nsv1047992	chr14:35563220-35639084	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
26	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
27	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
28	nsv1053978	chr14:35571762-35639084	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
29	nsv534182	chr14:35579022-35620232	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35529400-35590200	Weak transcription	Esophagus	oesophagus
2	chr14:35530600-35590000	Weak transcription	Fetal Heart	heart
3	chr14:35542000-35589600	Weak transcription	Fetal Brain Male	brain
4	chr14:35545600-35590000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:35546000-35585800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr14:35546000-35587200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:35550200-35586000	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:35552000-35586600	Strong transcription	Fetal Thymus	thymus
9	chr14:35553400-35589800	Weak transcription	Pancreas	Pancrea
10	chr14:35564200-35589400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:35564800-35589800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:35569400-35585800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:35573600-35586400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:35575200-35586200	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr14:35575200-35587000	Strong transcription	Fetal Intestine Large	intestine
16	chr14:35577600-35586600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr14:35577600-35587200	Strong transcription	Thymus	Thymus
18	chr14:35577600-35589800	Strong transcription	Fetal Stomach	stomach
19	chr14:35578600-35586000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr14:35579600-35590200	Weak transcription	Stomach Mucosa	stomach
21	chr14:35579800-35590000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:35580000-35589600	Weak transcription	Hela-S3	cervix
23	chr14:35580800-35590600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr14:35581200-35586200	Weak transcription	Brain Angular Gyrus	brain
25	chr14:35581200-35587600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:35581400-35586000	Strong transcription	HepG2	liver
27	chr14:35581400-35586200	Strong transcription	Dnd41	blood
28	chr14:35581400-35586600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:35581400-35586600	Strong transcription	Primary B cells from cord blood	blood
30	chr14:35581400-35586600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:35581400-35589800	Weak transcription	Gastric	stomach
32	chr14:35581400-35589800	Weak transcription	HMEC	breast
33	chr14:35581400-35589800	Weak transcription	NHEK	skin
34	chr14:35581400-35590000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:35581400-35590000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr14:35581400-35590000	Weak transcription	Psoas Muscle	Psoas
37	chr14:35581400-35590400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr14:35581400-35590400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:35581600-35590400	Weak transcription	Aorta	Aorta
40	chr14:35581800-35587400	Strong transcription	Fetal Muscle Leg	muscle
41	chr14:35581800-35590000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr14:35582000-35586200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr14:35582000-35586200	Weak transcription	Brain Hippocampus Middle	brain
44	chr14:35582000-35586400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr14:35582000-35590200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:35582600-35585800	Strong transcription	Fetal Intestine Small	intestine
47	chr14:35582800-35586600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:35582800-35587000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:35582800-35590000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:35582800-35590000	Weak transcription	Fetal Lung	lung

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