Variant report

Variant	rs14308
Chromosome Location	chr16:74920191-74920192
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	chr16:74919621..74922427-chr16:75181112..75183040,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184517	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1024503	1.00[ASN][1000 genomes]
rs10514386	1.00[ASN][1000 genomes]
rs11645307	1.00[ASN][1000 genomes]
rs11863300	1.00[ASN][1000 genomes]
rs11864313	1.00[ASN][1000 genomes]
rs11864349	1.00[ASN][1000 genomes]
rs11866550	1.00[ASN][1000 genomes]
rs12444462	1.00[ASN][1000 genomes]
rs12444618	1.00[ASN][1000 genomes]
rs12445200	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12446147	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12447968	0.80[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12919626	1.00[ASN][1000 genomes]
rs12921263	1.00[ASN][1000 genomes]
rs28810133	1.00[ASN][1000 genomes]
rs34398985	1.00[ASN][1000 genomes]
rs35038783	1.00[ASN][1000 genomes]
rs35456018	1.00[ASN][1000 genomes]
rs4887788	1.00[ASN][1000 genomes]
rs4888281	1.00[ASN][1000 genomes]
rs4888307	1.00[ASN][1000 genomes]
rs4985359	1.00[ASN][1000 genomes]
rs55727944	1.00[ASN][1000 genomes]
rs55836977	1.00[ASN][1000 genomes]
rs55859029	1.00[ASN][1000 genomes]
rs56009261	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56313952	1.00[ASN][1000 genomes]
rs58303079	1.00[ASN][1000 genomes]
rs62052860	1.00[ASN][1000 genomes]
rs62052861	1.00[ASN][1000 genomes]
rs71392615	1.00[ASN][1000 genomes]
rs7203228	1.00[ASN][1000 genomes]
rs72794783	1.00[ASN][1000 genomes]
rs72796668	1.00[ASN][1000 genomes]
rs72796671	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72796672	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72796678	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72796696	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798603	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798608	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798613	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798621	1.00[ASN][1000 genomes]
rs72798647	1.00[ASN][1000 genomes]
rs72798648	1.00[ASN][1000 genomes]
rs72798683	1.00[ASN][1000 genomes]
rs72798700	1.00[ASN][1000 genomes]
rs74024559	1.00[ASN][1000 genomes]
rs74024565	1.00[ASN][1000 genomes]
rs8047659	1.00[ASN][1000 genomes]
rs8062012	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937139	1.00[ASN][1000 genomes]
rs9940014	0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
4	nsv1058900	chr16:74753819-75005050	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv542958	chr16:74753819-75005050	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv431516	chr16:74840166-75099566	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
9	nsv833280	chr16:74855811-75077227	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1059764	chr16:74868327-74989488	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1064546	chr16:74868795-74989488	Enhancers Weak transcription Strong transcription Flanking Active TSS 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	9 gene(s)	inside rSNPs	diseases
12	nsv572977	chr16:74873513-74954897	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv526213	chr16:74873513-74990061	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv572978	chr16:74873574-74990004	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1063842	chr16:74896749-74990601	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv542959	chr16:74896749-74990601	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs14308	ADAT1	cis	parietal	SCAN
rs14308	RFWD3	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74896800-74925200	Weak transcription	Stomach Mucosa	stomach
2	chr16:74903200-74927800	Strong transcription	Fetal Stomach	stomach
3	chr16:74903400-74921000	Weak transcription	HUVEC	blood vessel
4	chr16:74903400-74921400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr16:74903600-74921400	Weak transcription	Psoas Muscle	Psoas
6	chr16:74904000-74926600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr16:74904800-74944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:74905200-74938000	Strong transcription	HepG2	liver
9	chr16:74905400-74924200	Strong transcription	Primary hematopoietic stem cells	blood
10	chr16:74905400-74931000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:74905400-74938200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:74905400-74950800	Strong transcription	Liver	Liver
13	chr16:74905600-74928600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:74905600-74938800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:74905800-74928000	Strong transcription	Dnd41	blood
16	chr16:74906000-74925400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr16:74906200-74993200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr16:74907200-74938200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr16:74909000-74921600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr16:74909200-74928200	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr16:74909600-74928000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr16:74909800-74922600	Weak transcription	Fetal Heart	heart
23	chr16:74910400-74934000	Strong transcription	Fetal Intestine Large	intestine
24	chr16:74911600-74938200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr16:74912400-74928600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr16:74912600-74924400	Strong transcription	Fetal Intestine Small	intestine
27	chr16:74912600-74936000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr16:74912800-74932400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr16:74912800-74934600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr16:74913400-74920200	Weak transcription	Small Intestine	intestine
31	chr16:74913400-74946000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr16:74914000-74924000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr16:74914000-74927800	Strong transcription	Thymus	Thymus
34	chr16:74914200-74924200	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr16:74914400-74924600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr16:74914400-74926800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr16:74914400-74927800	Strong transcription	Fetal Lung	lung
38	chr16:74914400-74928000	Strong transcription	Fetal Brain Female	brain
39	chr16:74914400-74929800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:74914400-74933600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr16:74914400-74938600	Strong transcription	Adipose Nuclei	Adipose
42	chr16:74914600-74922200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr16:74914600-74923800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr16:74914600-74924000	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr16:74914600-74930800	Strong transcription	Primary B cells from cord blood	blood
46	chr16:74914600-74930800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr16:74914800-74924400	Strong transcription	Fetal Muscle Leg	muscle
48	chr16:74915000-74933200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr16:74915800-74924800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr16:74915800-74929000	Strong transcription	H1 Cell Line	embryonic stem cell

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