Variant report

Variant	nsv558606
Chromosome Location	chr12:40837331-40863052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:189)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:189 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:40840290-40840374	K562	blood:	n/a	n/a
2	CEBPB	chr12:40837421-40837422	K562	blood:	n/a	n/a
3	CTCF	chr12:40840320-40840470	AG10803	skin:	n/a	n/a
4	CTCF	chr12:40839880-40840030	BJ	skin:	n/a	n/a
5	CTCF	chr12:40840280-40840430	HCFaa	heart:	n/a	n/a
6	CTCF	chr12:40840320-40840470	GM12878	blood:	n/a	n/a
7	CTCF	chr12:40840340-40840490	HA-sp	spinal cord:	n/a	n/a
8	CTCF	chr12:40840340-40840490	GM12871	blood:	n/a	n/a
9	CTCF	chr12:40840280-40840430	HA-sp	spinal cord:	n/a	n/a
10	CTCF	chr12:40840211-40840478	HepG2	liver:	n/a	n/a
11	CTCF	chr12:40840180-40840330	A549	lung:	n/a	n/a
12	CTCF	chr12:40840320-40840470	HEEpiC	esophagus:	n/a	n/a
13	CTCF	chr12:40840281-40840451	MCF-7	breast:	n/a	n/a
14	CTCF	chr12:40840273-40840459	Gliobla	brain:	n/a	n/a
15	CTCF	chr12:40840274-40840445	A549	lung:	n/a	n/a
16	CTCF	chr12:40840320-40840470	GM12867	blood:	n/a	n/a
17	CTCF	chr12:40840280-40840430	BJ	skin:	n/a	n/a
18	CTCF	chr12:40840332-40840364	Fibrobl	skin:	n/a	n/a
19	CTCF	chr12:40840292-40840452	HepG2	liver:	n/a	n/a
20	CTCF	chr12:40840340-40840490	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr12:40840280-40840430	GM12868	blood:	n/a	n/a
22	CTCF	chr12:40840300-40840450	HMEC	breast:	n/a	n/a
23	CTCF	chr12:40840265-40840510	GM12878	blood:	n/a	n/a
24	CTCF	chr12:40840320-40840470	GM12875	blood:	n/a	n/a
25	CTCF	chr12:40840291-40840465	HepG2	liver:	n/a	n/a
26	CTCF	chr12:40840320-40840470	AG09319	gingival:	n/a	n/a
27	CTCF	chr12:40840340-40840490	HPF	lung:	n/a	n/a
28	CTCF	chr12:40840320-40840470	GM12865	blood:	n/a	n/a
29	CTCF	chr12:40840281-40840487	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr12:40840280-40840430	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr12:40840280-40840430	K562	blood:	n/a	n/a
32	CTCF	chr12:40840260-40840410	GM12865	blood:	n/a	n/a
33	CTCF	chr12:40840236-40840556	IMR90	lung:	n/a	n/a
34	CTCF	chr12:40840240-40840390	BE2_C	brain:	n/a	n/a
35	CTCF	chr12:40840300-40840450	NHDF-neo	bronchial:	n/a	n/a
36	CTCF	chr12:40840340-40840490	NHLF	lung:	n/a	n/a
37	CTCF	chr12:40840101-40840731	SK-N-SH	brain:	n/a	n/a
38	CTCF	chr12:40840340-40840490	AG04450	lung:	n/a	n/a
39	CTCF	chr12:40840260-40840410	HRPEpiC	eye:	n/a	n/a
40	CTCF	chr12:40840260-40840410	NHEK	skin:	n/a	n/a
41	CTCF	chr12:40861460-40861610	HCT-116	colon:	n/a	n/a
42	CTCF	chr12:40840260-40840410	GM12870	blood:	n/a	n/a
43	CTCF	chr12:40840312-40840438	GM13976	blood:	n/a	n/a
44	CTCF	chr12:40840320-40840470	NHEK	skin:	n/a	n/a
45	CTCF	chr12:40840260-40840410	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr12:40840166-40840628	MCF-7	breast:	n/a	n/a
47	CTCF	chr12:40840300-40840450	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr12:40840300-40840450	GM12874	blood:	n/a	n/a
49	CTCF	chr12:40840260-40840410	AG04449	skin:	n/a	n/a
50	CTCF	chr12:40840280-40840430	HEEpiC	esophagus:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	12:40793507-40812339..12:40836437-40839614	H1-hESC	embryonic stem cell:	embryo
2	chr12:40855828..40858199-chr12:40862513..40864667,2	MCF-7	breast:
3	chr12:40719158..40719845-chr12:40839913..40840458,2	MCF-7	breast:
4	chr12:40852289..40854135-chr12:40855976..40858813,2	K562	blood:
5	chr12:40842998..40844668-chr12:40844905..40846558,2	K562	blood:
6	chr12:40842998..40844668-chr12:40844905..40846558,2	K562	blood:
7	chr12:40852289..40854135-chr12:40855976..40858813,2	K562	blood:
8	chr12:40803393..40806032-chr12:40844478..40846629,2	K562	blood:
9	chr12:40855828..40858199-chr12:40862513..40864667,2	MCF-7	breast:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC19-1	chr12:40843491-40843532	NONHSAT027728
2	lnc-MUC19-1	chr12:40857922-40858005	NONHSAT027728
3	lnc-MUC19-1	chr12:40858223-40858300	NONHSAT027728
4	lnc-MUC19-1	chr12:40841968-40841997	NONHSAT027728
5	lnc-MUC19-1	chr12:40859775-40859840	NONHSAT027728
6	lnc-MUC19-1	chr12:40838191-40838347	NONHSAT027728
7	lnc-MUC19-1	chr12:40839321-40839446	NONHSAT027728
8	lnc-MUC19-1	chr12:40858941-40859015	NONHSAT027728
9	lnc-MUC19-1	chr12:40840290-40840431	NONHSAT027728
10	lnc-MUC19-1	chr12:40837879-40838118	NONHSAT027728
11	lnc-MUC19-1	chr12:40859257-40859391	NONHSAT027728
12	lnc-MUC19-1	chr12:40852533-40852571	NONHSAT027728
13	lnc-MUC19-1	chr12:40841127-40841158	NONHSAT027728
14	lnc-MUC19-1	chr12:40857242-40857307	NONHSAT027728
15	lnc-MUC19-1	chr12:40854037-40854135	NONHSAT027728
16	lnc-MUC19-1	chr12:40844474-40844518	NONHSAT027728
17	lnc-MUC19-1	chr12:40844063-40844095	NONHSAT027728
18	lnc-SLC2A13-3	chr12:40837625-40837649	ENSG00000258167.1

No data

Variant related genes	Relation type
ENSG00000258167	TF binding region
ENSG00000205592	chromatin interactions

Extended variants
information (count: 297 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11564228	chr12:40837331-40837332	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566759648	chr12:40837344-40837345	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533717015	chr12:40837352-40837353	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535896472	chr12:40837358-40837359	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558730861	chr12:40837362-40837363	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369136930	chr12:40837374-40837375	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370143201	chr12:40837401-40837402	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576909195	chr12:40837406-40837407	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs11176665	chr12:40837413-40837414	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs114477575	chr12:40837468-40837469	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs35432305	chr12:40837500-40837501	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs386376257	chr12:40837501-40837502	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs397751330	chr12:40837502-40837503	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200442506	chr12:40837503-40837504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574533422	chr12:40837513-40837514	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542215598	chr12:40837579-40837580	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs73101570	chr12:40837589-40837590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572721017	chr12:40837606-40837607	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546047851	chr12:40837624-40837625	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536630237	chr12:40837637-40837638	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs564705434	chr12:40837660-40837661	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs532225879	chr12:40837726-40837727	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs17445064	chr12:40837761-40837762	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs562461758	chr12:40837763-40837764	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs148700557	chr12:40837780-40837781	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs548187817	chr12:40837782-40837783	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs369014731	chr12:40837793-40837794	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs534126721	chr12:40837808-40837809	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs207472855	chr12:40837842-40837843	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs193010491	chr12:40837860-40837861	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs11564109	chr12:40837898-40837899	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs537938589	chr12:40837929-40837930	Inactive region	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs556197448	chr12:40837967-40837968	Inactive region	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs185217778	chr12:40837986-40837987	Inactive region	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs11176666	chr12:40838017-40838018	Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs142255570	chr12:40838033-40838034	Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs374449795	chr12:40838068-40838069	Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs150831037	chr12:40838073-40838074	Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs558382420	chr12:40838119-40838120	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs10784620	chr12:40838146-40838147	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544042276	chr12:40838163-40838164	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs201619831	chr12:40838168-40838169	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs11176667	chr12:40838179-40838180	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs10784621	chr12:40838216-40838217	Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs201032823	chr12:40838217-40838218	Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs74707327	chr12:40838219-40838220	Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs34397952	chr12:40838248-40838249	Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs535407331	chr12:40838266-40838267	Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs532050552	chr12:40838278-40838279	Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs560120258	chr12:40838289-40838290	Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40838000-40838400	Enhancers	Pancreas	Pancrea
2	chr12:40839000-40841000	Enhancers	Fetal Heart	heart
3	chr12:40839400-40840000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:40842600-40842800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:40845600-40845800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:40846600-40847400	Enhancers	A549	lung
7	chr12:40846800-40848200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:40847400-40848000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:40847600-40848000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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