Variant report

Variant	nsv585773
Chromosome Location	chr20:26106445-26123531
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	BCL11A	chr20:26120133-26120429	GM12878	blood:	n/a	n/a
2	CEBPB	chr20:26121278-26121296	K562	blood:	n/a	chr20:26121283-26121294
3	CEBPB	chr20:26121211-26121451	A549	lung:	n/a	chr20:26121283-26121294 chr20:26121323-26121334 chr20:26121325-26121336
4	CEBPB	chr20:26121204-26121403	IMR90	lung:	n/a	chr20:26121283-26121294 chr20:26121323-26121334 chr20:26121325-26121336
5	CEBPB	chr20:26121146-26121440	HepG2	liver:	n/a	chr20:26121283-26121294 chr20:26121323-26121334 chr20:26121325-26121336
6	CTCF	chr20:26123040-26123190	NHDF-neo	bronchial:	n/a	n/a
7	CTCF	chr20:26120257-26120286	GM13976	blood:	n/a	n/a
8	CTCF	chr20:26121880-26121912	GM20000	blood:	n/a	n/a
9	EP300	chr20:26116330-26116506	GM12878	blood:	n/a	n/a
10	GATA2	chr20:26121745-26122102	K562	blood:	n/a	chr20:26121964-26121974
11	HEY1	chr20:26121778-26122049	K562	blood:	n/a	n/a
12	HEY1	chr20:26112203-26112690	K562	blood:	n/a	n/a
13	HEY1	chr20:26115423-26115717	K562	blood:	n/a	n/a
14	HEY1	chr20:26116153-26116826	K562	blood:	n/a	n/a
15	HEY1	chr20:26119119-26119343	K562	blood:	n/a	n/a
16	HEY1	chr20:26115739-26116936	K562	blood:	n/a	n/a
17	HEY1	chr20:26117442-26118079	K562	blood:	n/a	n/a
18	HEY1	chr20:26120458-26120914	K562	blood:	n/a	n/a
19	HEY1	chr20:26120118-26120456	K562	blood:	n/a	n/a
20	HEY1	chr20:26114369-26115242	K562	blood:	n/a	n/a
21	HEY1	chr20:26117031-26117343	K562	blood:	n/a	n/a
22	HEY1	chr20:26119466-26120087	K562	blood:	n/a	n/a
23	HEY1	chr20:26114689-26115086	K562	blood:	n/a	n/a
24	JUND	chr20:26108188-26108238	HepG2	liver:	n/a	chr20:26108201-26108212
25	MYC	chr20:26116157-26116160	MCF-7	breast:	n/a	n/a
26	MYC	chr20:26116087-26116155	MCF-7	breast:	n/a	n/a
27	MYC	chr20:26116163-26116166	MCF-7	breast:	n/a	n/a
28	NFYB	chr20:26116392-26116682	K562	blood:	n/a	n/a
29	POLR2A	chr20:26116158-26116407	K562	blood:	n/a	n/a
30	POLR2A	chr20:26116139-26116344	Gliobla	brain:	n/a	n/a
31	POLR2A	chr20:26119253-26119446	K562	blood:	n/a	n/a
32	POLR2A	chr20:26116142-26116724	K562	blood:	n/a	n/a
33	POLR2A	chr20:26106880-26106999	Gliobla	brain:	n/a	n/a
34	POLR2A	chr20:26116121-26116156	A549	lung:	n/a	n/a
35	POLR2A	chr20:26114724-26114730	MCF-7	breast:	n/a	n/a
36	POLR2A	chr20:26107580-26107737	K562	blood:	n/a	n/a
37	POLR2A	chr20:26121923-26122088	K562	blood:	n/a	n/a
38	POLR2A	chr20:26119761-26119901	K562	blood:	n/a	n/a
39	POLR2A	chr20:26115813-26115851	MCF-7	breast:	n/a	n/a
40	POLR2A	chr20:26116134-26116413	K562	blood:	n/a	n/a
41	POLR2A	chr20:26116001-26116240	MCF-7	breast:	n/a	n/a
42	POLR2A	chr20:26119727-26119932	K562	blood:	n/a	n/a
43	POLR2A	chr20:26116349-26116370	K562	blood:	n/a	n/a
44	POLR2A	chr20:26116235-26116411	K562	blood:	n/a	n/a
45	POLR2A	chr20:26108765-26109038	K562	blood:	n/a	n/a
46	POLR2A	chr20:26116100-26116197	MCF-7	breast:	n/a	n/a
47	POLR2A	chr20:26116593-26116779	K562	blood:	n/a	n/a
48	POLR2A	chr20:26115853-26115859	MCF-7	breast:	n/a	n/a
49	POLR2A	chr20:26114658-26114702	MCF-7	breast:	n/a	n/a
50	POLR2A	chr20:26116535-26116767	SK-N-SH	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM182B-4	chr20:26114675-26114834	XLOC_013713
2	lnc-FAM182A-5	chr20:26119625-26119691	NONHSAT079227
3	lnc-FAM182B-4	chr20:26113523-26113633	XLOC_013713
4	lnc-FAM182A-5	chr20:26122024-26122582	NONHSAT079227

Variant related genes	Relation type
ENSG00000230440	TF binding region

Extended variants
information (count: 547 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113652379	chr20:26113533-26113534	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs200092343	chr20:26113534-26113535	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs375245697	chr20:26113543-26113544	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs11907719	chr20:26113569-26113570	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs544785979	chr20:26113575-26113576	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs41275518	chr20:26113587-26113588	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs368752799	chr20:26113597-26113598	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs12625696	chr20:26113626-26113627	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs577076915	chr20:26114686-26114687	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs567285193	chr20:26114719-26114720	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs537939706	chr20:26114720-26114721	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs556109428	chr20:26114760-26114761	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs576335883	chr20:26114770-26114771	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs542343261	chr20:26114793-26114794	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs562028617	chr20:26114849-26114850	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs527525635	chr20:26114863-26114864	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs541178124	chr20:26114872-26114873	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs74377079	chr20:26114881-26114882	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs564379975	chr20:26114890-26114891	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs533230153	chr20:26114925-26114926	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs549826653	chr20:26114954-26114955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs78777440	chr20:26114973-26114974	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs34736689	chr20:26115005-26115006	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs76246686	chr20:26115036-26115037	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs146641626	chr20:26115083-26115084	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs377661684	chr20:26115095-26115096	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs111797158	chr20:26115096-26115097	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs565637706	chr20:26115104-26115105	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs148277333	chr20:26115119-26115120	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs188660218	chr20:26115129-26115130	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs79260792	chr20:26115143-26115144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs547545887	chr20:26115193-26115194	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs191403481	chr20:26115199-26115200	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs182718135	chr20:26115204-26115205	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs556422543	chr20:26115209-26115210	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs35559867	chr20:26115432-26115433	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs559410222	chr20:26115435-26115436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs6138808	chr20:26115441-26115442	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs34548674	chr20:26115444-26115445	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs551037537	chr20:26115463-26115464	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs570742703	chr20:26115481-26115482	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs188912927	chr20:26115498-26115499	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs570206141	chr20:26115499-26115500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs76835931	chr20:26115503-26115504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs78906032	chr20:26115505-26115506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs6138809	chr20:26115510-26115511	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs79290461	chr20:26115512-26115513	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs555439711	chr20:26115535-26115536	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs193250098	chr20:26115541-26115542	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs185376514	chr20:26115555-26115556	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26116000-26116400	Active TSS	K562	blood
2	chr20:26116000-26116800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:26116800-26125400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links