Variant report

Variant	nsv1062930
Chromosome Location	chr20:14688257-14778849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:572)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:572 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

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	chr20:14725407-14725742	GM12878	blood:	n/a	n/a
6	BATF	chr20:14704304-14704567	GM12878	blood:	n/a	n/a
7	BATF	chr20:14704765-14705024	GM12878	blood:	n/a	n/a
8	BATF	chr20:14725428-14725715	GM12878	blood:	n/a	n/a
9	BCL3	chr20:14692841-14693476	A549	lung:	n/a	chr20:14693105-14693113
10	BHLHE40	chr20:14704309-14704573	GM12878	blood:	n/a	n/a
11	CEBPB	chr20:14693084-14693447	HepG2	liver:	n/a	n/a
12	CEBPB	chr20:14732008-14732351	HepG2	liver:	n/a	chr20:14732170-14732181 chr20:14732170-14732183 chr20:14732172-14732183 chr20:14732170-14732183
13	CEBPB	chr20:14692977-14693503	A549	lung:	n/a	n/a
14	CEBPB	chr20:14708226-14708748	HepG2	liver:	n/a	chr20:14708579-14708590
15	CEBPB	chr20:14756412-14756875	MCF-7	breast:	n/a	n/a
16	CEBPB	chr20:14716911-14717116	HepG2	liver:	n/a	chr20:14716984-14716995
17	CEBPB	chr20:14693034-14693362	MCF-7	breast:	n/a	n/a
18	CEBPB	chr20:14756937-14757139	A549	lung:	n/a	n/a
19	CEBPB	chr20:14692769-14693600	A549	lung:	n/a	n/a
20	CEBPB	chr20:14708440-14708728	IMR90	lung:	n/a	chr20:14708579-14708590
21	CEBPB	chr20:14732003-14732304	A549	lung:	n/a	chr20:14732170-14732181 chr20:14732170-14732183 chr20:14732172-14732183 chr20:14732170-14732183
22	CEBPB	chr20:14693000-14693452	A549	lung:	n/a	n/a
23	CEBPB	chr20:14692892-14693574	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr20:14708288-14708750	A549	lung:	n/a	chr20:14708579-14708590
25	CEBPB	chr20:14708519-14708659	H1-hESC	embryonic stem cell:	n/a	chr20:14708579-14708590
26	CEBPB	chr20:14693070-14693431	IMR90	lung:	n/a	n/a
27	CEBPB	chr20:14692969-14693530	MCF-7	breast:	n/a	n/a
28	CEBPB	chr20:14732003-14732308	IMR90	lung:	n/a	chr20:14732170-14732181 chr20:14732170-14732183 chr20:14732172-14732183 chr20:14732170-14732183
29	CEBPB	chr20:14692877-14693435	ECC-1	luminal epithelium:	n/a	n/a
30	CHD2	chr20:14704417-14704689	GM12878	blood:	n/a	n/a
31	CHD2	chr20:14777993-14778007	HepG2	liver:	n/a	n/a
32	CHD2	chr20:14737473-14737585	HepG2	liver:	n/a	n/a
33	CREB1	chr20:14756518-14756798	A549	lung:	n/a	n/a
34	CTCF	chr20:14738555-14738628	Medullo	brain:	n/a	n/a
35	CTCF	chr20:14722320-14722470	SAEC	small airway:	n/a	n/a
36	CTCF	chr20:14722400-14722550	AG10803	skin:	n/a	n/a
37	CTCF	chr20:14738460-14738610	BE2_C	brain:	n/a	n/a
38	CTCF	chr20:14742709-14742782	GM12878	blood:	n/a	n/a
39	CTCF	chr20:14722320-14722470	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr20:14742687-14742749	GM12891	blood:	n/a	n/a
41	CTCF	chr20:14690800-14690950	BJ	skin:	n/a	n/a
42	CTCF	chr20:14758300-14758450	SAEC	small airway:	n/a	n/a
43	CTCF	chr20:14693167-14693231	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr20:14722360-14722510	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr20:14690760-14690910	BE2_C	brain:	n/a	n/a
46	CTCF	chr20:14771455-14771531	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr20:14710186-14710269	A549	lung:	n/a	n/a
48	CTCF	chr20:14726120-14726270	BE2_C	brain:	n/a	n/a
49	CTCF	chr20:14698500-14698650	K562	blood:	n/a	n/a
50	CTCF	chr20:14740520-14740670	HepG2	liver:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:
2	chr20:14767717..14771762-chr20:14774616..14777473,4	MCF-7	breast:
3	chr20:14733858..14735719-chr20:14744279..14746694,2	MCF-7	breast:
4	chr20:14769951..14772584-chr20:14781634..14783463,2	MCF-7	breast:
5	chr20:14744879..14746579-chr20:14747938..14749575,2	MCF-7	breast:
6	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:
7	chr20:14757945..14761170-chr20:14762279..14765371,3	MCF-7	breast:
8	chr20:14606804..14608358-chr20:14690132..14692728,2	MCF-7	breast:
9	chr20:14688944..14691499-chr20:14692203..14695103,3	MCF-7	breast:
10	chr20:14767717..14771762-chr20:14774616..14777473,4	MCF-7	breast:
11	chr20:14755716..14758614-chr20:14760211..14762111,2	MCF-7	breast:
12	chr20:14744879..14746579-chr20:14747938..14749575,2	MCF-7	breast:
13	chr20:14757945..14761170-chr20:14762279..14765371,3	MCF-7	breast:
14	chr20:14743071..14745118-chr20:14745452..14747052,2	K562	blood:
15	chr20:14741627..14743404-chr20:14744142..14746208,2	MCF-7	breast:
16	chr20:14743071..14745118-chr20:14745452..14747052,2	K562	blood:
17	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
18	chr20:14733858..14735719-chr20:14744279..14746694,2	MCF-7	breast:
19	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
20	chr20:14741627..14743404-chr20:14744142..14746208,2	MCF-7	breast:
21	chr20:14688944..14691499-chr20:14692203..14695103,3	MCF-7	breast:
22	chr20:14755716..14758614-chr20:14760211..14762111,2	MCF-7	breast:

No data

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

Extended variants
information (count: 2379 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:2379 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149167846	chr20:14688283-14688284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539143240	chr20:14688291-14688292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574513458	chr20:14688304-14688305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200743348	chr20:14688321-14688322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557200439	chr20:14688362-14688363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6110401	chr20:14688367-14688368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183726361	chr20:14688369-14688370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536485071	chr20:14688374-14688375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572351616	chr20:14688410-14688411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6110402	chr20:14688414-14688415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555298114	chr20:14688469-14688470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188714602	chr20:14688493-14688494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148318760	chr20:14688494-14688495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6034015	chr20:14688510-14688511	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs17775664	chr20:14688519-14688520	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs367713853	chr20:14688578-14688579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371502246	chr20:14688580-14688581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374981658	chr20:14688655-14688656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545068293	chr20:14688657-14688658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533518368	chr20:14688686-14688687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540905502	chr20:14688692-14688693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140587359	chr20:14688706-14688707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145528830	chr20:14688746-14688747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563274382	chr20:14688775-14688776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11699301	chr20:14688777-14688778	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs79300723	chr20:14688781-14688782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560806956	chr20:14688796-14688797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11697103	chr20:14688818-14688819	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564542593	chr20:14688839-14688840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146973869	chr20:14688851-14688852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117523476	chr20:14688852-14688853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138217180	chr20:14688881-14688882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566003026	chr20:14688887-14688888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551042531	chr20:14688953-14688954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6042874	chr20:14688995-14688996	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs536805902	chr20:14689021-14689022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555211953	chr20:14689093-14689094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191972952	chr20:14689129-14689130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11908097	chr20:14689146-14689147	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559322479	chr20:14689153-14689154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577553461	chr20:14689182-14689183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200114076	chr20:14689217-14689218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544721332	chr20:14689258-14689259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6042875	chr20:14689272-14689273	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184340267	chr20:14689279-14689280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575250652	chr20:14689290-14689291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34096596	chr20:14689309-14689310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542377274	chr20:14689348-14689349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560146291	chr20:14689358-14689359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536815677	chr20:14689366-14689367	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:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14681600-14698200	Weak transcription	Fetal Kidney	kidney
2	chr20:14682000-14688800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr20:14682000-14689800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr20:14682200-14692200	Weak transcription	Fetal Heart	heart
5	chr20:14682200-14693000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr20:14685600-14688800	Weak transcription	NHEK	skin
7	chr20:14686000-14688600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:14686200-14694600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr20:14687200-14689000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr20:14687200-14692800	Weak transcription	Ovary	ovary
11	chr20:14687400-14689200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr20:14687600-14688600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr20:14687600-14688800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr20:14687600-14689200	Enhancers	Fetal Lung	lung
15	chr20:14687600-14692000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr20:14688000-14689200	Enhancers	Liver	Liver
17	chr20:14688000-14691400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr20:14688200-14689200	Enhancers	Stomach Mucosa	stomach
19	chr20:14688200-14690800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr20:14688200-14691200	Enhancers	Fetal Intestine Large	intestine
21	chr20:14688600-14688800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr20:14688600-14689400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr20:14688600-14690200	Enhancers	Duodenum Mucosa	Duodenum
24	chr20:14688600-14690800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr20:14688600-14691000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr20:14688600-14693200	Enhancers	A549	lung
27	chr20:14688600-14693600	Enhancers	Fetal Intestine Small	intestine
28	chr20:14688800-14689200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr20:14688800-14689200	Enhancers	NHEK	skin
30	chr20:14688800-14691000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr20:14688800-14691000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr20:14689000-14692400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr20:14689200-14691200	Weak transcription	NHEK	skin
34	chr20:14689200-14691400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr20:14689200-14691600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr20:14689200-14692200	Weak transcription	Fetal Lung	lung
37	chr20:14689200-14692400	Weak transcription	Stomach Mucosa	stomach
38	chr20:14689200-14692800	Weak transcription	Liver	Liver
39	chr20:14689400-14690600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr20:14689800-14691200	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr20:14690000-14690200	Enhancers	Small Intestine	intestine
42	chr20:14690200-14690800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr20:14690200-14692200	Weak transcription	Small Intestine	intestine
44	chr20:14690600-14694000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr20:14690800-14691000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr20:14690800-14691000	Enhancers	Duodenum Mucosa	Duodenum
47	chr20:14690800-14696800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr20:14690800-14697200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr20:14691000-14692000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr20:14691000-14692200	Enhancers	HUES48 Cell Line	embryonic stem cell

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