Variant report

Variant	nsv912700
Chromosome Location	chr20:14678135-14739839
allele	n/a
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	ATF1	chr20:14706954-14707154	K562	blood:	n/a	n/a
2	ATF2	chr20:14725297-14725726	GM12878	blood:	n/a	n/a
3	ATF3	chr20:14692815-14693406	A549	lung:	n/a	n/a
4	BACH1	chr20:14702858-14702913	K562	blood:	n/a	n/a
5	BATF	chr20:14704304-14704567	GM12878	blood:	n/a	n/a
6	BATF	chr20:14725428-14725715	GM12878	blood:	n/a	n/a
7	BATF	chr20:14704765-14705024	GM12878	blood:	n/a	n/a
8	BATF	chr20:14725407-14725742	GM12878	blood:	n/a	n/a
9	BCL3	chr20:14692841-14693476	A549	lung:	n/a	chr20:14693105-14693113
10	BCL3	chr20:14681045-14681280	GM12878	blood:	n/a	n/a
11	BCL3	chr20:14681041-14681305	GM12878	blood:	n/a	n/a
12	BHLHE40	chr20:14704309-14704573	GM12878	blood:	n/a	n/a
13	BHLHE40	chr20:14680806-14681273	GM12878	blood:	n/a	n/a
14	CEBPB	chr20:14716911-14717116	HepG2	liver:	n/a	chr20:14716984-14716995
15	CEBPB	chr20:14693000-14693452	A549	lung:	n/a	n/a
16	CEBPB	chr20:14732003-14732308	IMR90	lung:	n/a	chr20:14732170-14732181 chr20:14732170-14732183 chr20:14732172-14732183 chr20:14732170-14732183
17	CEBPB	chr20:14708226-14708748	HepG2	liver:	n/a	chr20:14708579-14708590
18	CEBPB	chr20:14693084-14693447	HepG2	liver:	n/a	n/a
19	CEBPB	chr20:14693034-14693362	MCF-7	breast:	n/a	n/a
20	CEBPB	chr20:14708519-14708659	H1-hESC	embryonic stem cell:	n/a	chr20:14708579-14708590
21	CEBPB	chr20:14692769-14693600	A549	lung:	n/a	n/a
22	CEBPB	chr20:14692977-14693503	A549	lung:	n/a	n/a
23	CEBPB	chr20:14677983-14678307	HepG2	liver:	n/a	chr20:14678123-14678134 chr20:14678124-14678133 chr20:14678122-14678135 chr20:14678122-14678133
24	CEBPB	chr20:14708288-14708750	A549	lung:	n/a	chr20:14708579-14708590
25	CEBPB	chr20:14732003-14732304	A549	lung:	n/a	chr20:14732170-14732181 chr20:14732170-14732183 chr20:14732172-14732183 chr20:14732170-14732183
26	CEBPB	chr20:14678001-14678282	A549	lung:	n/a	chr20:14678123-14678134 chr20:14678124-14678133 chr20:14678122-14678135 chr20:14678122-14678133
27	CEBPB	chr20:14693070-14693431	IMR90	lung:	n/a	n/a
28	CEBPB	chr20:14692969-14693530	MCF-7	breast:	n/a	n/a
29	CEBPB	chr20:14692877-14693435	ECC-1	luminal epithelium:	n/a	n/a
30	CEBPB	chr20:14732008-14732351	HepG2	liver:	n/a	chr20:14732170-14732181 chr20:14732170-14732183 chr20:14732172-14732183 chr20:14732170-14732183
31	CEBPB	chr20:14692892-14693574	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr20:14708440-14708728	IMR90	lung:	n/a	chr20:14708579-14708590
33	CHD2	chr20:14704417-14704689	GM12878	blood:	n/a	n/a
34	CHD2	chr20:14737473-14737585	HepG2	liver:	n/a	n/a
35	CTCF	chr20:14731178-14731212	ProgFib	skin:	n/a	n/a
36	CTCF	chr20:14738536-14738670	HepG2	liver:	n/a	n/a
37	CTCF	chr20:14690760-14690910	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr20:14722280-14722430	HMEC	breast:	n/a	n/a
39	CTCF	chr20:14738520-14738670	HepG2	liver:	n/a	n/a
40	CTCF	chr20:14690780-14690930	MCF-7	breast:	n/a	n/a
41	CTCF	chr20:14726099-14726109	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr20:14690793-14690905	MCF-7	breast:	n/a	n/a
43	CTCF	chr20:14722340-14722490	AG09319	gingival:	n/a	n/a
44	CTCF	chr20:14725660-14725810	GM06990	blood:	n/a	n/a
45	CTCF	chr20:14690717-14690865	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr20:14710186-14710269	A549	lung:	n/a	n/a
47	CTCF	chr20:14690760-14690910	BE2_C	brain:	n/a	n/a
48	CTCF	chr20:14722360-14722510	AG10803	skin:	n/a	n/a
49	CTCF	chr20:14722363-14722460	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr20:14690620-14690770	HCPEpiC	choroid plexus:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:
2	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
3	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
4	chr20:14688944..14691499-chr20:14692203..14695103,3	MCF-7	breast:
5	chr20:14606804..14608358-chr20:14690132..14692728,2	MCF-7	breast:
6	chr20:14733858..14735719-chr20:14744279..14746694,2	MCF-7	breast:
7	chr20:14688944..14691499-chr20:14692203..14695103,3	MCF-7	breast:
8	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:

Variant related genes	Relation type
RPS10P2	TF binding region
ENSG00000227927	chromatin interactions

Extended variants
information (count: 1755 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1755 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6135225	chr20:14678135-14678136	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573664321	chr20:14678183-14678184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6105312	chr20:14678191-14678192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6110396	chr20:14678230-14678231	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs77619439	chr20:14678291-14678292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141237379	chr20:14678312-14678313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79706099	chr20:14678348-14678349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186161672	chr20:14678433-14678434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191677634	chr20:14678437-14678438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73262812	chr20:14678442-14678443	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs145172522	chr20:14678459-14678460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570049053	chr20:14678484-14678485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537440041	chr20:14678501-14678502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533596969	chr20:14678593-14678594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373403276	chr20:14678607-14678608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147587248	chr20:14678624-14678625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535212613	chr20:14678642-14678643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553904357	chr20:14678709-14678710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183016071	chr20:14678750-14678751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546052413	chr20:14678764-14678765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558072280	chr20:14678782-14678783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576449056	chr20:14678794-14678795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141778491	chr20:14678829-14678830	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs188252104	chr20:14678833-14678834	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs574048037	chr20:14678864-14678865	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs192498565	chr20:14678865-14678866	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs559825987	chr20:14678894-14678895	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs113101947	chr20:14678934-14678935	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs6042863	chr20:14678957-14678958	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs143755512	chr20:14678963-14678964	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs563638367	chr20:14678994-14678995	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs560896481	chr20:14678995-14678996	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs148170942	chr20:14679003-14679004	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs567984331	chr20:14679004-14679005	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs535461869	chr20:14679005-14679006	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs553716886	chr20:14679065-14679066	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs35528173	chr20:14679124-14679125	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs547157842	chr20:14679184-14679185	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs370648498	chr20:14679231-14679232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528375449	chr20:14679238-14679239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539638391	chr20:14679258-14679259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73262814	chr20:14679305-14679306	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs6079532	chr20:14679333-14679334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373620167	chr20:14679354-14679355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560811133	chr20:14679408-14679409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576366875	chr20:14679412-14679413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182156984	chr20:14679448-14679449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141082505	chr20:14679456-14679457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117548753	chr20:14679462-14679463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150193586	chr20:14679463-14679464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
early-passage human iPS cells	21368824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14668400-14680800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14674800-14681400	Weak transcription	Pancreas	Pancrea
3	chr20:14676400-14681200	Weak transcription	GM12878-XiMat	blood
4	chr20:14677200-14678600	Enhancers	Adipose Nuclei	Adipose
5	chr20:14677200-14678800	Enhancers	Colon Smooth Muscle	Colon
6	chr20:14677600-14678200	Enhancers	Rectal Smooth Muscle	rectum
7	chr20:14677600-14678800	Enhancers	Liver	Liver
8	chr20:14677800-14678200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr20:14677800-14679600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:14677800-14681000	Weak transcription	Fetal Kidney	kidney
11	chr20:14677800-14681200	Weak transcription	Fetal Heart	heart
12	chr20:14677800-14681600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr20:14678000-14678200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr20:14678000-14679600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr20:14678000-14679800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr20:14678000-14679800	Weak transcription	NHEK	skin
17	chr20:14678000-14682000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr20:14678200-14678400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr20:14678200-14680000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr20:14678200-14681400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr20:14678400-14680800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr20:14678600-14678800	Enhancers	Fetal Intestine Large	intestine
23	chr20:14678600-14679000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr20:14678800-14679200	Flanking Active TSS	Liver	Liver
25	chr20:14678800-14679600	Weak transcription	Fetal Intestine Large	intestine
26	chr20:14678800-14682000	Weak transcription	Colon Smooth Muscle	Colon
27	chr20:14679200-14679600	Enhancers	Liver	Liver
28	chr20:14679600-14680200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr20:14679600-14680200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr20:14679600-14680200	Flanking Active TSS	Liver	Liver
31	chr20:14679600-14680400	Enhancers	Fetal Intestine Large	intestine
32	chr20:14679600-14682800	Enhancers	Fetal Intestine Small	intestine
33	chr20:14679800-14680200	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr20:14679800-14680400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr20:14679800-14681800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr20:14679800-14681800	Enhancers	NHEK	skin
37	chr20:14680000-14680200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr20:14680000-14680200	Enhancers	Fetal Brain Male	brain
39	chr20:14680000-14680400	Enhancers	Duodenum Mucosa	Duodenum
40	chr20:14680000-14680400	Enhancers	A549	lung
41	chr20:14680200-14681000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr20:14680200-14681000	Weak transcription	Fetal Brain Male	brain
43	chr20:14680200-14681200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr20:14680200-14681400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr20:14680200-14681600	Enhancers	Liver	Liver
46	chr20:14680400-14680800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr20:14680400-14680800	Weak transcription	A549	lung
48	chr20:14680400-14681400	Weak transcription	Fetal Intestine Large	intestine
49	chr20:14680400-14681400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr20:14680800-14681600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links