Variant report

Variant	rs12588158
Chromosome Location	chr14:104345541-104345542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104312778..104315212-chr14:104344720..104347233,3	MCF-7	breast:
2	chr14:104336130..104339253-chr14:104343612..104346035,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258735	Chromatin interaction
ENSG00000088808	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10144862	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10145537	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10873540	0.87[ASN][1000 genomes]
rs11160768	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12884940	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17101891	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28569774	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57639232	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59415340	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61995849	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995855	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7146090	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146238	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009053	0.93[EUR][1000 genomes]
rs8009235	0.93[EUR][1000 genomes]
rs8010954	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8016348	0.82[EUR][1000 genomes]
rs8018649	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
8	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	esv1818596	chr14:104312697-104359121	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv1836134	chr14:104312697-104359121	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv1053305	chr14:104326137-104372608	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv542205	chr14:104326137-104372608	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv542206	chr14:104326137-104377507	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv1042792	chr14:104326137-104384260	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv542207	chr14:104326137-104384260	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv1800828	chr14:104343852-104351500	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104339200-104345600	Weak transcription	A549	lung
2	chr14:104339200-104345800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr14:104339200-104346200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:104339200-104346200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr14:104339400-104345600	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:104339400-104345800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr14:104339400-104345800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:104339400-104345800	Weak transcription	Colonic Mucosa	Colon
9	chr14:104339400-104345800	Weak transcription	Right Ventricle	heart
10	chr14:104339400-104346000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:104339400-104346000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:104339400-104346000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:104339400-104346000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr14:104339400-104346000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:104339400-104346000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:104339400-104346000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:104339600-104346000	Weak transcription	Primary T cells from cord blood	blood
18	chr14:104340000-104345600	Weak transcription	Fetal Intestine Large	intestine
19	chr14:104340000-104345800	Weak transcription	Left Ventricle	heart
20	chr14:104340200-104345600	Weak transcription	Fetal Intestine Small	intestine
21	chr14:104340200-104346000	Weak transcription	Placenta	Placenta
22	chr14:104340200-104346000	Weak transcription	Fetal Stomach	stomach
23	chr14:104340200-104346200	Weak transcription	Fetal Thymus	thymus
24	chr14:104341400-104346400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr14:104341600-104345800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:104341600-104345800	Weak transcription	Esophagus	oesophagus
27	chr14:104341600-104346000	Weak transcription	Lung	lung
28	chr14:104341600-104346000	Weak transcription	Spleen	Spleen
29	chr14:104341600-104346000	Weak transcription	GM12878-XiMat	blood
30	chr14:104341600-104346200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr14:104341600-104346800	Weak transcription	Gastric	stomach
32	chr14:104343600-104345800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr14:104343800-104345600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:104344000-104345600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:104344000-104346000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr14:104344600-104349800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr14:104345000-104345800	Enhancers	Stomach Mucosa	stomach
38	chr14:104345000-104346000	Enhancers	Fetal Lung	lung
39	chr14:104345400-104345800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:104345400-104345800	Active TSS	Duodenum Mucosa	Duodenum
41	chr14:104345400-104345800	Enhancers	Pancreas	Pancrea
42	chr14:104345400-104345800	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr14:104345400-104345800	Active TSS	HepG2	liver
44	chr14:104345400-104347400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr14:104345400-104347600	Flanking Active TSS	Liver	Liver

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