Variant report

Variant	rs3825585
Chromosome Location	chr14:24740167-24740168
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:102)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:102 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP4	chr14:24740155-24740893	H1-hESC	embryonic stem cell:	n/a	chr14:24740399-24740415 chr14:24740666-24740677 chr14:24740414-24740430
2	RCOR1	chr14:24739693-24741167	K562	blood:	n/a	n/a
3	CEBPD	chr14:24739980-24741100	HepG2	liver:	n/a	n/a
4	PAX5	chr14:24740165-24741221	GM12878	blood:	n/a	chr14:24740846-24740855
5	HDAC2	chr14:24739930-24741311	MCF-7	breast:	n/a	chr14:24740847-24740856
6	MBD4	chr14:24739637-24741834	HepG2	liver:	n/a	n/a
7	ZBTB7A	chr14:24740086-24741085	HepG2	liver:	n/a	n/a
8	YY1	chr14:24739977-24741137	HepG2	liver:	n/a	chr14:24740269-24740283
9	POLR2A	chr14:24740124-24741226	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr14:24740160-24741175	GM18526	blood:	n/a	n/a
11	SIN3A	chr14:24740087-24741297	H1-hESC	embryonic stem cell:	n/a	chr14:24740746-24740755
12	TBP	chr14:24740135-24741011	H1-hESC	embryonic stem cell:	n/a	n/a
13	SMARCB1	chr14:24739985-24741089	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr14:24739512-24741951	A549	lung:	n/a	chr14:24740898-24740908
15	POLR2A	chr14:24740157-24741120	GM15510	blood:	n/a	n/a
16	HEY1	chr14:24740065-24741214	HepG2	liver:	n/a	chr14:24740845-24740860 chr14:24740753-24740768
17	ELF1	chr14:24740077-24741135	GM12878	blood:	n/a	chr14:24740418-24740430
18	POLR2A	chr14:24739973-24741268	GM12892	blood:	n/a	n/a
19	CTCF	chr14:24740160-24740310	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr14:24740167-24741222	K562	blood:	n/a	n/a
21	MAX	chr14:24740034-24741407	A549	lung:	n/a	chr14:24740272-24740282
22	TAF7	chr14:24740122-24740957	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr14:24739860-24741309	GM12891	blood:	n/a	n/a
24	POLR2A	chr14:24740115-24741153	Hela-S3	cervix:	n/a	n/a
25	RELA	chr14:24740111-24741295	GM15510	blood:	n/a	n/a
26	MAX	chr14:24740130-24741368	MCF-7	breast:	n/a	chr14:24740272-24740282
27	STAT5A	chr14:24739848-24741199	GM12878	blood:	n/a	n/a
28	HNF4G	chr14:24740125-24741104	HepG2	liver:	n/a	n/a
29	POLR2A	chr14:24740000-24741115	GM12878	blood:	n/a	n/a
30	PBX3	chr14:24740059-24741090	SK-N-SH	brain:	n/a	n/a
31	ZBTB7A	chr14:24740110-24741038	ECC-1	luminal epithelium:	n/a	n/a
32	PBX3	chr14:24740026-24741032	SK-N-SH	brain:	n/a	n/a
33	MAX	chr14:24740012-24741313	ECC-1	luminal epithelium:	n/a	chr14:24740272-24740282
34	MBD4	chr14:24739610-24741422	HepG2	liver:	n/a	n/a
35	MAZ	chr14:24740004-24741186	IMR90	lung:	n/a	chr14:24740272-24740282
36	POLR2A	chr14:24739999-24741257	HL-60	blood:	n/a	n/a
37	POLR2A	chr14:24739954-24741201	ECC-1	luminal epithelium:	n/a	n/a
38	TEAD4	chr14:24739545-24741394	HepG2	liver:	n/a	n/a
39	POLR2A	chr14:24740126-24741233	GM19099	blood:	n/a	n/a
40	CREB1	chr14:24739699-24741275	HepG2	liver:	n/a	n/a
41	POLR2A	chr14:24740068-24741242	GM18951	blood:	n/a	n/a
42	MXI1	chr14:24740036-24741295	IMR90	lung:	n/a	n/a
43	MAX	chr14:24739635-24741452	HCT-116	colon:	n/a	chr14:24740272-24740282
44	HDAC2	chr14:24739730-24741253	HepG2	liver:	n/a	chr14:24740847-24740856
45	POLR2A	chr14:24740139-24741080	HepG2	liver:	n/a	n/a
46	BRCA1	chr14:24740132-24741113	Hela-S3	cervix:	n/a	n/a
47	MYBL2	chr14:24739514-24741449	HepG2	liver:	n/a	n/a
48	POLR2A	chr14:24740037-24741163	Hela-S3	cervix:	n/a	n/a
49	ELF1	chr14:24740050-24741300	MCF-7	breast:	n/a	chr14:24740418-24740430
50	PBX3	chr14:24740107-24741054	A549	lung:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24723886..24727280-chr14:24739756..24742681,5	K562	blood:
2	chr14:24563251..24565464-chr14:24739353..24742072,2	K562	blood:
3	chr14:24738849..24740758-chr14:24911753..24913964,2	MCF-7	breast:
4	chr14:24658469..24661265-chr14:24739057..24740636,2	K562	blood:
5	chr14:24683518..24685322-chr14:24738872..24741925,4	K562	blood:
6	chr14:24731299..24737661-chr14:24737668..24742603,15	K562	blood:
7	chr14:24728033..24731088-chr14:24738307..24741895,4	K562	blood:
8	chr14:24710128..24713467-chr14:24737949..24741923,9	K562	blood:
9	chr14:24706492..24710014-chr14:24739300..24741823,3	K562	blood:
10	chr14:24680755..24686632-chr14:24737203..24743863,8	MCF-7	breast:
11	chr14:24738558..24740532-chr14:24907754..24910468,2	MCF-7	breast:
12	chr14:24738683..24743110-chr14:24766285..24769354,4	K562	blood:
13	chr14:24710704..24713128-chr14:24738885..24741180,4	K562	blood:
14	chr14:24739150..24741254-chr14:24902393..24904882,2	MCF-7	breast:
15	chr14:24740079..24740834-chr9:100818720..100819502,2	Hela-S3	cervix:
16	chr14:24737357..24740167-chr14:24791316..24793649,2	MCF-7	breast:
17	chr14:24740147..24741087-chr20:57607069..57607797,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
RABGGTA	TF binding region
ENSG00000129535	Chromatin interaction
ENSG00000259522	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000124172	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000092295	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000092330	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11622118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627152	0.87[GIH][hapmap]
rs11627187	0.87[GIH][hapmap]
rs14193	0.83[JPT][hapmap]
rs2075530	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2281473	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877612	0.98[ASN][1000 genomes]
rs3814813	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3940231	0.83[JPT][hapmap]
rs6573651	0.98[ASN][1000 genomes]
rs6573653	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs729421	0.83[JPT][hapmap]
rs941505	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3825585	DHRS1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24737400-24740200	Weak transcription	Aorta	Aorta
2	chr14:24739200-24740200	Weak transcription	Ovary	ovary
3	chr14:24739400-24740200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:24739400-24741000	Active TSS	Brain Cingulate Gyrus	brain
5	chr14:24739600-24740400	Flanking Active TSS	GM12878-XiMat	blood
6	chr14:24739800-24740200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:24739800-24740200	Flanking Active TSS	Esophagus	oesophagus
8	chr14:24739800-24740200	Flanking Active TSS	Stomach Mucosa	stomach
9	chr14:24739800-24740200	Flanking Active TSS	Hela-S3	cervix
10	chr14:24739800-24740400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr14:24739800-24740400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr14:24739800-24740400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:24739800-24740400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr14:24739800-24740400	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr14:24739800-24740400	Flanking Active TSS	Fetal Intestine Large	intestine
16	chr14:24739800-24740400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr14:24739800-24740400	Flanking Active TSS	Dnd41	blood
18	chr14:24739800-24740400	Flanking Active TSS	HMEC	breast
19	chr14:24739800-24740400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr14:24739800-24740400	Flanking Active TSS	NHEK	skin
21	chr14:24739800-24740600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:24739800-24740800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:24739800-24741000	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr14:24739800-24741200	Active TSS	H1 Cell Line	embryonic stem cell
25	chr14:24739800-24741200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:24739800-24741200	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr14:24739800-24741200	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr14:24739800-24741400	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr14:24739800-24741400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:24739800-24741600	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr14:24740000-24740200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:24740000-24740200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr14:24740000-24740200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:24740000-24740200	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr14:24740000-24740200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:24740000-24740200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:24740000-24740200	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr14:24740000-24740200	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr14:24740000-24740200	Flanking Active TSS	Gastric	stomach
40	chr14:24740000-24740200	Enhancers	Lung	lung
41	chr14:24740000-24740200	Active TSS	Right Atrium	heart
42	chr14:24740000-24740200	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr14:24740000-24740200	Enhancers	Small Intestine	intestine
44	chr14:24740000-24740200	Enhancers	Spleen	Spleen
45	chr14:24740000-24740200	Flanking Bivalent TSS/Enh	HepG2	liver
46	chr14:24740000-24740200	Enhancers	HSMMtube	muscle
47	chr14:24740000-24740200	Flanking Active TSS	NHLF	lung
48	chr14:24740000-24740400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:24740000-24740400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:24740000-24740400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links