Variant report

Variant	nsv818817
Chromosome Location	chr11:49326534-49358347
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	CEBPB	chr11:49332880-49333223	IMR90	lung:	n/a	n/a
2	CEBPB	chr11:49332869-49333147	HepG2	liver:	n/a	n/a
3	CTCF	chr11:49340030-49340071	Pancreas_OC	pancreas:	n/a	n/a
4	CTCF	chr11:49339405-49339580	K562	blood:	n/a	n/a
5	CTCF	chr11:49335020-49335089	ProgFib	skin:	n/a	n/a
6	E2F4	chr11:49341977-49342137	MCF10A-Er-Src	breast:	n/a	n/a
7	JUN	chr11:49348960-49349482	HUVEC	blood vessel:	n/a	chr11:49349211-49349219 chr11:49349183-49349192
8	MAFK	chr11:49341949-49342039	HepG2	liver:	n/a	n/a
9	MAFK	chr11:49357196-49357396	HepG2	liver:	n/a	chr11:49357324-49357334 chr11:49357328-49357339 chr11:49357328-49357339
10	MAFK	chr11:49337767-49337955	HepG2	liver:	n/a	chr11:49337897-49337908 chr11:49337895-49337909 chr11:49337896-49337912 chr11:49337896-49337907 chr11:49337897-49337908
11	POLR2A	chr11:49353520-49353659	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr11:49326609-49326749	ProgFib	skin:	n/a	n/a
13	POLR2A	chr11:49329809-49329887	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr11:49336353-49336511	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:49339879-49339997	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:49348698-49348754	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr11:49341687-49341822	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:49354248-49354365	A549	lung:	n/a	n/a
19	POLR2A	chr11:49348466-49348595	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr11:49340209-49340334	GM12878	blood:	n/a	n/a
21	ZKSCAN1	chr11:49335743-49335756	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000255532	TF binding region

Extended variants
information (count: 319 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561797078	chr11:49326620-49326621	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs1164674	chr11:49326629-49326630	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547045202	chr11:49326644-49326645	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs541460922	chr11:49326665-49326666	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs35460813	chr11:49326677-49326678	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs570437752	chr11:49326715-49326716	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs144074728	chr11:49326741-49326742	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs192711539	chr11:49326743-49326744	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs1684258	chr11:49340020-49340021	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567359229	chr11:49340064-49340065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529102817	chr11:49340076-49340077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536396136	chr11:49340160-49340161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185518049	chr11:49340184-49340185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527795229	chr11:49340218-49340219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373456527	chr11:49340229-49340230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34492597	chr11:49340238-49340239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547766576	chr11:49340239-49340240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112070571	chr11:49340270-49340271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533669725	chr11:49340336-49340337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138800085	chr11:49340358-49340359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190448266	chr11:49340376-49340377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs61885305	chr11:49340384-49340385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539497727	chr11:49340387-49340388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555204682	chr11:49341400-49341401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573786809	chr11:49341411-49341412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192114985	chr11:49341485-49341486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542990651	chr11:49341508-49341509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61885307	chr11:49341560-49341561	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs573109111	chr11:49341605-49341606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541518181	chr11:49341634-49341635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183325945	chr11:49341647-49341648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559228213	chr11:49341667-49341668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186557441	chr11:49341676-49341677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189819244	chr11:49341705-49341706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138843724	chr11:49341718-49341719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540290168	chr11:49341798-49341799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563707848	chr11:49341802-49341803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560399343	chr11:49341806-49341807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs57087386	chr11:49341816-49341817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs549298020	chr11:49341822-49341823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559496469	chr11:49341823-49341824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528632552	chr11:49341863-49341864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142740574	chr11:49341930-49341931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147391057	chr11:49341937-49341938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532508407	chr11:49341951-49341952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188423935	chr11:49341953-49341954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567294854	chr11:49341957-49341958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536535364	chr11:49341962-49341963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192896555	chr11:49342008-49342009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185121630	chr11:49342033-49342034	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49340000-49340400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr11:49341400-49342200	Enhancers	Liver	Liver
3	chr11:49347600-49348600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:49347600-49348600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr11:49347800-49349400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:49347800-49350400	Enhancers	HUVEC	blood vessel
7	chr11:49348000-49348600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr11:49348000-49349400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:49348200-49348600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr11:49348200-49350200	Enhancers	Ovary	ovary
11	chr11:49348400-49348800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:49348400-49348800	Enhancers	Fetal Heart	heart
13	chr11:49348800-49349000	Flanking Active TSS	Fetal Heart	heart
14	chr11:49349000-49349200	Enhancers	Fetal Heart	heart
15	chr11:49349200-49349400	Flanking Active TSS	Fetal Heart	heart
16	chr11:49349200-49349800	Enhancers	Aorta	Aorta
17	chr11:49349400-49351600	Enhancers	Fetal Heart	heart
18	chr11:49351600-49353600	Weak transcription	Fetal Heart	heart
19	chr11:49353600-49354200	Enhancers	Fetal Heart	heart

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