Variant report

Variant	nsv826317
Chromosome Location	chr12:33380271-33446428
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:33388213..33390806-chr12:33400854..33403757,2	K562	blood:
2	chr12:33388213..33390806-chr12:33400854..33403757,2	K562	blood:
3	chr12:33404543..33406817-chr12:33570626..33572211,2	MCF-7	breast:
4	chr12:33436159..33437882-chr12:33438934..33441225,2	K562	blood:
5	chr12:33389850..33391877-chr17:56707852..56709552,2	MCF-7	breast:
6	chr12:33436159..33437882-chr12:33438934..33441225,2	K562	blood:

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 1910 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1910 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150226988	chr12:33380296-33380297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545275293	chr12:33380297-33380298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11052542	chr12:33380298-33380299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs187881121	chr12:33380325-33380326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191184867	chr12:33380381-33380382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556539556	chr12:33380409-33380410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10544171	chr12:33380416-33380417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201127817	chr12:33380419-33380420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569924758	chr12:33380424-33380425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6488144	chr12:33380461-33380462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559132462	chr12:33380467-33380468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182204427	chr12:33380469-33380470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6488145	chr12:33380480-33380481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs187681800	chr12:33380482-33380483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7305601	chr12:33380524-33380525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542527738	chr12:33380528-33380529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372271996	chr12:33380533-33380534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562507241	chr12:33380534-33380535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138803340	chr12:33380535-33380536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192853664	chr12:33380549-33380550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564686395	chr12:33380557-33380558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111494275	chr12:33380560-33380561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183074878	chr12:33380561-33380562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7136533	chr12:33380569-33380570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7136540	chr12:33380579-33380580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7305835	chr12:33380599-33380600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570043631	chr12:33380600-33380601	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs551714176	chr12:33380601-33380602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs7136661	chr12:33380635-33380636	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566210065	chr12:33380640-33380641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs533981707	chr12:33380653-33380654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs535084478	chr12:33380660-33380661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs111636575	chr12:33380670-33380671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs188507773	chr12:33380671-33380672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs536557064	chr12:33380684-33380685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs148618777	chr12:33380717-33380718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs370625015	chr12:33380746-33380747	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs4931710	chr12:33380754-33380755	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544633011	chr12:33380756-33380757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs150755433	chr12:33380759-33380760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs571825235	chr12:33380771-33380772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs540698880	chr12:33380781-33380782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs193284516	chr12:33389880-33389881	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564780931	chr12:33389887-33389888	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545989777	chr12:33389908-33389909	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184228265	chr12:33389917-33389918	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs77956513	chr12:33389931-33389932	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547199081	chr12:33389965-33389966	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs139919354	chr12:33389980-33389981	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs76851494	chr12:33389983-33389984	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33375600-33380600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:33380600-33380800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:33398400-33398800	Enhancers	Colon Smooth Muscle	Colon
4	chr12:33399200-33400000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:33400000-33402600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:33400400-33400800	Enhancers	HepG2	liver
7	chr12:33402600-33403000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:33403000-33413200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:33406000-33406400	Enhancers	Fetal Stomach	stomach
10	chr12:33406000-33406600	Enhancers	Colon Smooth Muscle	Colon
11	chr12:33406000-33406600	Enhancers	Rectal Smooth Muscle	rectum
12	chr12:33406600-33408200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:33408800-33409200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:33413200-33413400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:33413400-33418000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:33418000-33418600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:33418000-33418800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:33418400-33418800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:33418400-33419000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:33418400-33420200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:33418600-33427800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:33419000-33420200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:33420200-33420600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:33420200-33421200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr12:33420400-33420600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr12:33421200-33422200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr12:33422200-33422400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr12:33427800-33428200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:33428200-33429800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:33432600-33436400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:33439200-33445600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:33442600-33443200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:33445600-33445800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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