Variant report

Variant	rs12586530
Chromosome Location	chr14:24766771-24766772
allele	A/G
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	chr14:24766734-24767150	T-47D	breast:	n/a	n/a
2	CTCF	chr14:24766633-24767267	MCF-7	breast:	n/a	n/a
3	MBD4	chr14:24765655-24767231	HepG2	liver:	n/a	n/a
4	CTCF	chr14:24765692-24767247	A549	lung:	n/a	chr14:24766223-24766244 chr14:24766228-24766246 chr14:24766230-24766243 chr14:24766231-24766241
5	CTCF	chr14:24766631-24767230	MCF-7	breast:	n/a	n/a
6	RAD21	chr14:24766697-24767245	HCT-116	colon:	n/a	n/a
7	CTCF	chr14:24766720-24766870	GM06990	blood:	n/a	n/a
8	GATA3	chr14:24766681-24767268	MCF-7	breast:	n/a	n/a
9	RAD21	chr14:24766739-24767210	H1-hESC	embryonic stem cell:	n/a	n/a
10	MTA3	chr14:24765611-24766892	GM12878	blood:	n/a	n/a
11	RAD21	chr14:24766710-24767225	MCF-7	breast:	n/a	n/a
12	MYBL2	chr14:24765782-24767282	HepG2	liver:	n/a	n/a
13	CTCF	chr14:24765682-24767410	SK-N-SH	brain:	n/a	chr14:24766223-24766244 chr14:24766228-24766246 chr14:24766230-24766243 chr14:24766231-24766241
14	GATA3	chr14:24766707-24767161	SK-N-SH	brain:	n/a	n/a
15	RAD21	chr14:24766664-24767247	MCF-7	breast:	n/a	n/a
16	SMC3	chr14:24765997-24767184	HepG2	liver:	n/a	chr14:24766230-24766244
17	RCOR1	chr14:24766710-24766797	GM12878	blood:	n/a	n/a
18	CTCF	chr14:24765820-24767261	HCT-116	colon:	n/a	chr14:24766223-24766244 chr14:24766228-24766246 chr14:24766230-24766243 chr14:24766231-24766241
19	CTCF	chr14:24765922-24767319	HepG2	liver:	n/a	chr14:24766223-24766244 chr14:24766228-24766246 chr14:24766230-24766243 chr14:24766231-24766241
20	RAD21	chr14:24765905-24767314	SK-N-SH	brain:	n/a	chr14:24766226-24766245 chr14:24766232-24766241 chr14:24766228-24766240 chr14:24766229-24766242 chr14:24766230-24766240
21	RAD21	chr14:24766641-24767308	HepG2	liver:	n/a	n/a
22	GATA2	chr14:24766609-24767146	HUVEC	blood vessel:	n/a	n/a
23	CTCF	chr14:24766746-24767232	A549	lung:	n/a	n/a
24	SMC3	chr14:24766001-24767181	Hela-S3	cervix:	n/a	chr14:24766230-24766244
25	SMC3	chr14:24765780-24767249	SK-N-SH	brain:	n/a	chr14:24766230-24766244
26	USF2	chr14:24766695-24767029	GM12878	blood:	n/a	n/a
27	GATA3	chr14:24766764-24767139	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr14:24766489-24767439	MCF-7	breast:	n/a	n/a
29	SMC3	chr14:24765896-24767171	GM12878	blood:	n/a	chr14:24766230-24766244
30	RAD21	chr14:24766769-24767165	HepG2	liver:	n/a	n/a
31	MBD4	chr14:24765858-24767207	HepG2	liver:	n/a	n/a
32	MAZ	chr14:24765772-24766823	IMR90	lung:	n/a	n/a
33	GATA3	chr14:24766770-24767122	T-47D	breast:	n/a	n/a
34	GATA2	chr14:24766760-24767151	SH-SY5Y	brain:	n/a	n/a
35	TEAD4	chr14:24765959-24767292	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24701050..24707093-chr14:24765824..24771703,7	K562	blood:
2	chr14:24680927..24686311-chr14:24766466..24771455,6	K562	blood:
3	chr14:24682270..24687913-chr14:24764870..24771791,12	MCF-7	breast:
4	chr14:24527263..24528098-chr14:24766176..24766963,2	MCF-7	breast:
5	chr14:24759345..24761161-chr14:24766043..24768971,2	K562	blood:
6	chr14:24759955..24762103-chr14:24766475..24767984,2	K562	blood:
7	chr14:24747459..24749153-chr14:24766216..24767743,2	MCF-7	breast:
8	chr14:24655120..24666858-chr14:24765577..24776253,24	MCF-7	breast:
9	chr14:24745018..24746771-chr14:24765412..24768322,2	K562	blood:
10	chr14:24717480..24720084-chr14:24765245..24767667,2	K562	blood:
11	chr14:24766197..24768383-chr14:24901175..24902842,2	K562	blood:
12	chr14:24764989..24768278-chr14:24895035..24897150,3	K562	blood:
13	chr14:24765284..24770509-chr14:24899183..24903551,4	MCF-7	breast:
14	chr14:24766227..24766812-chr14:24901057..24901559,2	MCF-7	breast:
15	chr14:24701050..24705855-chr14:24766597..24769956,4	K562	blood:
16	chr14:24617565..24619359-chr14:24765168..24767839,2	K562	blood:
17	chr14:24711747..24713361-chr14:24764963..24767066,22	MCF-7	breast:
18	chr14:24711567..24712777-chr14:24765600..24767078,6	K562	blood:
19	chr14:24759089..24762221-chr14:24766736..24770177,4	MCF-7	breast:
20	chr14:24738683..24743110-chr14:24766285..24769354,4	K562	blood:
21	chr14:24710819..24712965-chr14:24764278..24766988,3	K562	blood:
22	chr14:24765570..24768951-chr14:24773362..24777339,4	K562	blood:
23	chr14:24766317..24768502-chr19:39108568..39111298,2	MCF-7	breast:
24	chr14:24748208..24749586-chr14:24765690..24766775,9	MCF-7	breast:

Variant related genes	Relation type
DHRS1	TF binding region
NOP9	TF binding region
ENSG00000254692	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000259522	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000104814	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000255526	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000129559	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000178982	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000100441	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10136508	0.87[JPT][hapmap]
rs1046584	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11627152	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs11627187	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs2332320	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7494242	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901499	chr14:24765622-24787588	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
4	nsv901500	chr14:24765622-24793762	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12586530	DHRS1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24741200-24768200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:24741600-24767800	Weak transcription	Fetal Brain Male	brain
3	chr14:24748600-24768200	Weak transcription	Psoas Muscle	Psoas
4	chr14:24749000-24768200	Weak transcription	Right Atrium	heart
5	chr14:24753600-24768200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:24759800-24768000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr14:24760200-24767600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:24761600-24767800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:24761800-24768400	Weak transcription	Small Intestine	intestine
10	chr14:24762000-24768000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:24762000-24768000	Weak transcription	Right Ventricle	heart
12	chr14:24765000-24768000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:24765400-24768000	Weak transcription	Brain Germinal Matrix	brain
14	chr14:24765400-24768200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:24765600-24768000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:24765600-24768000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:24765600-24768000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:24765600-24768000	Weak transcription	Fetal Brain Female	brain
19	chr14:24765800-24766800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr14:24765800-24767000	Genic enhancers	Primary T cells fromperipheralblood	blood
21	chr14:24765800-24767000	Enhancers	HUVEC	blood vessel
22	chr14:24765800-24767000	Genic enhancers	K562	blood
23	chr14:24765800-24767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:24765800-24767800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr14:24765800-24767800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr14:24765800-24767800	Enhancers	Hela-S3	cervix
27	chr14:24765800-24767800	Enhancers	HMEC	breast
28	chr14:24765800-24768000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr14:24765800-24768000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:24765800-24768000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr14:24765800-24768000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr14:24765800-24768000	Genic enhancers	Fetal Intestine Small	intestine
33	chr14:24765800-24768000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:24765800-24768000	Enhancers	Dnd41	blood
35	chr14:24765800-24768200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr14:24765800-24768200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:24765800-24768200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:24765800-24768200	Weak transcription	Aorta	Aorta
39	chr14:24766000-24766800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:24766000-24766800	Enhancers	Stomach Mucosa	stomach
41	chr14:24766000-24767000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:24766000-24767000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:24766000-24767000	Enhancers	Fetal Heart	heart
44	chr14:24766000-24767000	Enhancers	Fetal Kidney	kidney
45	chr14:24766000-24767000	Enhancers	A549	lung
46	chr14:24766000-24767000	Flanking Active TSS	GM12878-XiMat	blood
47	chr14:24766000-24767200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:24766000-24767400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr14:24766000-24767400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:24766000-24767400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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