Variant report

Variant	rs8013243
Chromosome Location	chr14:24503533-24503534
allele	C/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	MYBL2	chr14:24503251-24504248	HepG2	liver:	n/a	n/a
2	CTCF	chr14:24503400-24503550	MCF-7	breast:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
3	CTCF	chr14:24503440-24503590	HPF	lung:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
4	CTCF	chr14:24503440-24503590	HRPEpiC	eye:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
5	CTCF	chr14:24503440-24503590	GM12865	blood:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
6	CTCF	chr14:24503420-24503570	GM12869	blood:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
7	RAD21	chr14:24503369-24503676	H1-hESC	embryonic stem cell:	n/a	chr14:24503508-24503527
8	CTCF	chr14:24503420-24503570	RPTEC	kidney:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
9	CTCF	chr14:24503440-24503590	HEK293	kidney:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
10	CTCF	chr14:24503480-24503630	HCPEpiC	choroid plexus:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
11	CTCF	chr14:24503400-24503550	HUVEC	blood vessel:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
12	RAD21	chr14:24503295-24503757	H1-hESC	embryonic stem cell:	n/a	chr14:24503508-24503527
13	CTCF	chr14:24503400-24503550	HFF-Myc	foreskin:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
14	CTCF	chr14:24503500-24503650	BJ	skin:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
15	CTCF	chr14:24503420-24503570	GM12865	blood:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
16	CTCF	chr14:24503460-24503610	AG09319	gingival:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
17	CTCF	chr14:24503460-24503610	GM12872	blood:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
18	CTCF	chr14:24503420-24503570	HBMEC	blood vessel:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
19	CTCF	chr14:24503420-24503570	HRE	kidney:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
20	CTCF	chr14:24503440-24503590	MCF-7	breast:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
21	CTCF	chr14:24503456-24503618	H1-hESC	embryonic stem cell:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
22	CTCF	chr14:24503400-24503550	HFF	foreskin:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
23	CTCF	chr14:24503342-24504072	MCF-7	breast:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
24	CTCF	chr14:24503440-24503590	GM12872	blood:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
25	SMC3	chr14:24503384-24504044	HepG2	liver:	n/a	chr14:24503512-24503526
26	CTCF	chr14:24503480-24503630	AG09319	gingival:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
27	CTCF	chr14:24503386-24503647	H1-hESC	embryonic stem cell:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
28	CTCF	chr14:24503467-24503585	MCF-7	breast:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
29	CTCF	chr14:24503440-24503590	HCPEpiC	choroid plexus:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
30	CTCF	chr14:24503420-24503570	HCFaa	heart:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
31	CTCF	chr14:24503402-24503660	HepG2	liver:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
32	CTCF	chr14:24503460-24503610	SAEC	small airway:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
33	CTCF	chr14:24503295-24503733	H1-hESC	embryonic stem cell:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
34	CTCF	chr14:24503420-24503570	HFF-Myc	foreskin:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
35	CTCF	chr14:24503460-24503610	WERI-Rb-1	eye:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
36	CTCF	chr14:24503475-24503585	A549	lung:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
37	CTCF	chr14:24503480-24503630	GM12866	blood:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
38	CTCF	chr14:24503420-24503570	HCT-116	colon:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
39	CTCF	chr14:24503420-24503570	GM12873	blood:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
40	CTCF	chr14:24503440-24503590	HMF	breast:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
41	CTCF	chr14:24503460-24503610	GM12873	blood:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
42	CTCF	chr14:24503500-24503650	HVMF	connective:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
43	CTCF	chr14:24503258-24504105	HepG2	liver:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
44	CTCF	chr14:24503458-24503587	HepG2	liver:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
45	CTCF	chr14:24503400-24503550	GM06990	blood:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
46	CTCF	chr14:24503480-24503630	K562	blood:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
47	CTCF	chr14:24503440-24503590	Hela-S3	cervix:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
48	CTCF	chr14:24503420-24503570	A549	lung:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
49	CTCF	chr14:24503460-24503610	GM12874	blood:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
50	RAD21	chr14:24503332-24504179	HepG2	liver:	n/a	chr14:24503508-24503527

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

Variant related genes	Relation type
ENSG00000225766	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs2984716	1.00[EUR][1000 genomes]
rs55643821	0.91[EUR][1000 genomes]
rs55664822	0.91[EUR][1000 genomes]
rs55696718	1.00[EUR][1000 genomes]
rs55774579	0.91[EUR][1000 genomes]
rs55777341	0.91[EUR][1000 genomes]
rs55795553	0.87[EUR][1000 genomes]
rs55895464	0.91[EUR][1000 genomes]
rs55911718	0.84[EUR][1000 genomes]
rs55933233	1.00[EUR][1000 genomes]
rs55986585	0.91[EUR][1000 genomes]
rs56013927	0.87[EUR][1000 genomes]
rs56021847	1.00[EUR][1000 genomes]
rs56079821	0.82[EUR][1000 genomes]
rs56166780	0.91[EUR][1000 genomes]
rs56171184	0.91[EUR][1000 genomes]
rs56239015	0.91[EUR][1000 genomes]
rs61999794	0.91[EUR][1000 genomes]
rs61999796	0.91[EUR][1000 genomes]
rs61999797	0.91[EUR][1000 genomes]
rs61999798	0.84[EUR][1000 genomes]
rs61999799	0.91[EUR][1000 genomes]
rs61999801	0.91[EUR][1000 genomes]
rs61999802	0.91[EUR][1000 genomes]
rs61999849	0.91[EUR][1000 genomes]
rs61999852	0.91[EUR][1000 genomes]
rs61999855	0.96[EUR][1000 genomes]
rs61999856	0.91[EUR][1000 genomes]
rs62000761	0.91[EUR][1000 genomes]
rs62000792	1.00[EUR][1000 genomes]
rs62000814	1.00[EUR][1000 genomes]
rs62000817	1.00[EUR][1000 genomes]
rs62000818	1.00[EUR][1000 genomes]
rs7150459	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7155223	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7158037	0.91[EUR][1000 genomes]
rs7160290	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72692114	0.84[EUR][1000 genomes]
rs72692115	0.91[EUR][1000 genomes]
rs72692116	0.91[EUR][1000 genomes]
rs72692118	0.91[EUR][1000 genomes]
rs72692121	0.96[EUR][1000 genomes]
rs72692132	1.00[EUR][1000 genomes]
rs8009760	1.00[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

No data

Chromatin state (count:27 , 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	chr14:24502000-24503800	Enhancers	Placenta	Placenta
4	chr14:24502000-24504000	Enhancers	Liver	Liver
5	chr14:24502000-24504400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:24502000-24505200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:24502000-24505200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr14:24502400-24505400	Weak transcription	HMEC	breast
9	chr14:24502600-24504200	Weak transcription	Hela-S3	cervix
10	chr14:24502600-24505000	Weak transcription	Pancreas	Pancrea
11	chr14:24502600-24505200	Weak transcription	Osteobl	bone
12	chr14:24502600-24505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:24503000-24503600	Enhancers	Psoas Muscle	Psoas
14	chr14:24503000-24503600	Enhancers	NHLF	lung
15	chr14:24503000-24504000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:24503000-24505000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:24503000-24505000	Enhancers	A549	lung
18	chr14:24503000-24505400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:24503200-24503600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:24503200-24503800	Enhancers	NHDF-Ad	bronchial
21	chr14:24503400-24503600	Enhancers	Fetal Muscle Trunk	muscle
22	chr14:24503400-24503800	Enhancers	Esophagus	oesophagus
23	chr14:24503400-24504000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr14:24503400-24504000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr14:24503400-24504200	Flanking Active TSS	HepG2	liver
26	chr14:24503400-24504400	Weak transcription	Dnd41	blood
27	chr14:24503400-24505200	Enhancers	Fetal Thymus	thymus

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