Variant report

Variant	rs62000813
Chromosome Location	chr14:24503335-24503336
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr14:24503251-24504248	HepG2	liver:	n/a	n/a
2	CTCF	chr14:24503200-24503350	HepG2	liver:	n/a	n/a
3	RAD21	chr14:24503295-24503757	H1-hESC	embryonic stem cell:	n/a	chr14:24503508-24503527
4	CTCF	chr14:24503320-24503470	AG04450	lung:	n/a	n/a
5	CTCF	chr14:24503295-24503733	H1-hESC	embryonic stem cell:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
6	USF1	chr14:24503158-24503487	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr14:24503258-24504105	HepG2	liver:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
8	RAD21	chr14:24503332-24504179	HepG2	liver:	n/a	chr14:24503508-24503527
9	ZNF143	chr14:24503260-24503656	H1-hESC	embryonic stem cell:	n/a	chr14:24503402-24503421 chr14:24503405-24503420 chr14:24503622-24503637

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24503311-24503361	NT2-D1	testis:	n/a
2	chr14:24503311-24503361	SK-N-SH	brain:	n/a
3	chr14:24503311-24503361	BJ	skin:	n/a
4	chr14:24503311-24503361	Jurkat	blood:	n/a
5	chr14:24503311-24503361	NB4	blood:	n/a
6	chr14:24503311-24503361	HPAEpiC	pulmonary alveolar:	n/a
7	chr14:24503311-24503361	MCF10A-Er-Src	breast:	n/a
8	chr14:24503311-24503361	HAEpiC	amniotic membrane:	n/a
9	chr14:24503311-24503361	AG09309	skin:	n/a
10	chr14:24503311-24503361	GM06990	blood:	n/a
11	chr14:24503311-24503361	GM12891	blood:	n/a
12	chr14:24503311-24503361	HRCEpiC	kidney:	n/a
13	chr14:24503311-24503361	GM12878	blood:	n/a
14	chr14:24503311-24503361	AG04450	lung:	fetal
15	chr14:24503311-24503361	SK-N-MC	brain:	n/a
16	chr14:24503311-24503361	HIPEpiC	eye:	n/a
17	chr14:24503311-24503361	LNCaP	prostate:	n/a
18	chr14:24503311-24503361	HRE	kidney:	n/a
19	chr14:24503311-24503361	AG04449	skin:	fetal
20	chr14:24503311-24503361	ECC-1	luminal epithelium:	n/a
21	chr14:24503311-24503361	HCPEpiC	choroid plexus:	n/a
22	chr14:24503311-24503361	Hepatocyte	liver:	n/a
23	chr14:24503311-24503361	AG10803	skin:	n/a
24	chr14:24503311-24503361	HCT-116	colon:	n/a
25	chr14:24503311-24503361	U87	brain:	n/a
26	chr14:24503311-24503361	CMK	blood:	n/a
27	chr14:24503311-24503361	SK-N-SH_RA	brain:	n/a
28	chr14:24503311-24503361	PrEC	prostate:	n/a
29	chr14:24503311-24503361	SKMC	muscle:	n/a
30	chr14:24503311-24503361	Hela-S3	cervix:	n/a
31	chr14:24503311-24503361	MCF-7	breast:	n/a
32	chr14:24503311-24503361	HEEpiC	esophagus:	n/a
33	chr14:24503311-24503361	HCF	heart:	n/a
34	chr14:24503311-24503361	NH-A	brain:	n/a
35	chr14:24503311-24503361	HepG2	liver:	n/a
36	chr14:24503311-24503361	HCM	heart:	n/a
37	chr14:24503311-24503361	H1-hESC	embryonic stem cell:	embryo
38	chr14:24503311-24503361	HRPEpiC	eye:	n/a
39	chr14:24503311-24503361	HEK293	kidney:	embryo
40	chr14:24503311-24503361	GM12892	blood:	n/a
41	chr14:24503311-24503361	ProgFib	skin:	n/a
42	chr14:24503311-24503361	BE2_C	brain:	n/a
43	chr14:24503311-24503361	PFSK-1	brain:	n/a
44	chr14:24503311-24503361	RPTEC	kidney:	n/a
45	chr14:24503311-24503361	NHDF-neo	bronchial:	n/a
46	chr14:24503311-24503361	SAEC	small airway:	n/a
47	chr14:24503311-24503361	A549	lung:	n/a
48	chr14:24503311-24503361	GM19239	blood:	n/a
49	chr14:24503311-24503361	K562	blood:	n/a
50	chr14:24503311-24503361	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:24482659..24484974-chr14:24503307..24504865,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225766	TF binding region
ENSG00000225766	CpG island

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12587718	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981492	0.97[EUR][1000 genomes]
rs4982846	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56404379	0.81[EUR][1000 genomes]
rs61999779	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61999781	0.85[EUR][1000 genomes]
rs61999783	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7153857	0.84[AMR][1000 genomes]
rs7155202	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74036734	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8008266	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv1217	chr14:24400565-24512689	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1049316	chr14:24405420-24583724	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv541999	chr14:24405420-24583724	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	esv2761633	chr14:24423582-24513917	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv564047	chr14:24428509-24525634	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv901497	chr14:24429249-24514449	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1052180	chr14:24429298-24555710	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	esv33403	chr14:24429613-24505105	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv826901	chr14:24457315-24508468	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv91	chr14:24469668-24504712	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	nsv1048292	chr14:24474511-24513905	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
13	nsv9126	chr14:24475840-24505714	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	nsv1049192	chr14:24478882-24519250	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
15	nsv1037929	chr14:24478882-24522447	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
16	nsv1052857	chr14:24479375-24513905	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
17	nsv1047042	chr14:24484459-24513905	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
18	nsv1038839	chr14:24488131-24510197	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
19	nsv1044763	chr14:24488131-24513905	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
20	nsv1051893	chr14:24488131-24519250	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
21	nsv1043854	chr14:24488131-24522447	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
22	nsv1049849	chr14:24488384-24513905	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
23	nsv516023	chr14:24489605-24550224	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
24	nsv1038278	chr14:24494063-24513905	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
25	nsv1042507	chr14:24494153-24513905	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs62000813	DHRS4L2	cis	Muscle Skeletal	GTEx
rs62000813	DHRS4L2	cis	Artery Tibial	GTEx
rs62000813	DHRS4	cis	Muscle Skeletal	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24501800-24505200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr14:24501800-24505200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr14:24502000-24503400	Enhancers	HepG2	liver
4	chr14:24502000-24503800	Enhancers	Placenta	Placenta
5	chr14:24502000-24504000	Enhancers	Liver	Liver
6	chr14:24502000-24504400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:24502000-24505200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:24502000-24505200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr14:24502400-24505400	Weak transcription	HMEC	breast
10	chr14:24502600-24503400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:24502600-24504200	Weak transcription	Hela-S3	cervix
12	chr14:24502600-24505000	Weak transcription	Pancreas	Pancrea
13	chr14:24502600-24505200	Weak transcription	Osteobl	bone
14	chr14:24502600-24505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:24503000-24503600	Enhancers	Psoas Muscle	Psoas
16	chr14:24503000-24503600	Enhancers	NHLF	lung
17	chr14:24503000-24504000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:24503000-24505000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:24503000-24505000	Enhancers	A549	lung
20	chr14:24503000-24505400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:24503200-24503400	Enhancers	Dnd41	blood
22	chr14:24503200-24503600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:24503200-24503800	Enhancers	NHDF-Ad	bronchial

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