Variant report

Variant	nsv558258
Chromosome Location	chr12:33706521-33716354
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:33592469..33594296-chr12:33715860..33717717,2	MCF-7	breast:
2	chr12:33704309..33707491-chr12:33710515..33713446,4	K562	blood:
3	chr12:33590753..33592625-chr12:33706633..33709299,2	K562	blood:
4	chr12:33704309..33707491-chr12:33710515..33713446,4	K562	blood:
5	chr12:33711689..33714048-chr12:33717879..33720013,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110975	chromatin interactions

Extended variants
information (count: 332 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:332 , 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	rs11052748	chr12:33706521-33706522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576728503	chr12:33706592-33706593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs118147351	chr12:33706603-33706604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35591222	chr12:33706611-33706612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116268692	chr12:33706626-33706627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573026024	chr12:33706644-33706645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541536347	chr12:33706695-33706696	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs561786723	chr12:33706751-33706752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs530479327	chr12:33706802-33706803	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191132864	chr12:33706822-33706823	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564119627	chr12:33706862-33706863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533448718	chr12:33706871-33706872	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182916013	chr12:33706955-33706956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141423091	chr12:33706968-33706969	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529514874	chr12:33707015-33707016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7979562	chr12:33707023-33707024	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs569016951	chr12:33707049-33707050	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537798473	chr12:33707073-33707074	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557724667	chr12:33707075-33707076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs143239416	chr12:33707082-33707083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs34107002	chr12:33707107-33707108	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539337288	chr12:33707134-33707135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs148288069	chr12:33707138-33707139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs369538207	chr12:33707170-33707171	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572921126	chr12:33707173-33707174	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542018986	chr12:33707203-33707204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555455663	chr12:33707228-33707229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs575408422	chr12:33707301-33707302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs544363244	chr12:33707316-33707317	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs202222995	chr12:33707351-33707352	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs11052749	chr12:33707435-33707436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs532974024	chr12:33707458-33707459	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs540545258	chr12:33707555-33707556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs560857295	chr12:33707700-33707701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs188330941	chr12:33707720-33707721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529425407	chr12:33707749-33707750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573640367	chr12:33707772-33707773	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs58692195	chr12:33707809-33707810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549167004	chr12:33707857-33707858	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs77843061	chr12:33707887-33707888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531680520	chr12:33707893-33707894	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150843124	chr12:33707923-33707924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571528054	chr12:33707936-33707937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534219234	chr12:33707993-33707994	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs76691176	chr12:33708007-33708008	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs138371694	chr12:33708016-33708017	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs535430663	chr12:33708029-33708030	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs555591977	chr12:33708039-33708040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575547059	chr12:33708084-33708085	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs143661951	chr12:33708093-33708094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	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
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
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33704800-33714600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:33709800-33710000	Enhancers	H9 Cell Line	embryonic stem cell
3	chr12:33710000-33710600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr12:33710000-33713600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:33711200-33711600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:33711600-33713200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:33712200-33712400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:33712400-33712600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:33712400-33712600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:33712400-33713600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:33712600-33713400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:33712800-33713800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:33713200-33713600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr12:33713400-33713600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:33713400-33714400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr12:33713600-33713800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr12:33713600-33713800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr12:33713600-33714000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr12:33713600-33714000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr12:33713600-33714000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr12:33713600-33714400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:33713600-33714400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:33713600-33714600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:33713800-33714000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr12:33713800-33714400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr12:33713800-33714400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr12:33714000-33714200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr12:33714000-33714600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr12:33714000-33714800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr12:33714200-33714600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr12:33714600-33714800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:33714600-33714800	ZNF genes & repeats	Pancreas	Pancrea
33	chr12:33714600-33715000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:33715600-33716200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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