Variant report

Variant	nsv508669
Chromosome Location	chr12:33378867-33403526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:33389850..33391877-chr17:56707852..56709552,2	MCF-7	breast:
2	chr12:33352581..33354830-chr12:33377901..33380078,2	MCF-7	breast:
3	chr12:33388213..33390806-chr12:33400854..33403757,2	K562	blood:
4	chr12:33388213..33390806-chr12:33400854..33403757,2	K562	blood:

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 371 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146880582	chr12:33378913-33378914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560311815	chr12:33378936-33378937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530693135	chr12:33378960-33378961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528201070	chr12:33378980-33378981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550492267	chr12:33378990-33378991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546275668	chr12:33378997-33378998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10844505	chr12:33379018-33379019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs546656320	chr12:33379045-33379046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566442587	chr12:33379048-33379049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186116977	chr12:33379102-33379103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550295228	chr12:33379125-33379126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549020392	chr12:33379130-33379131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568849020	chr12:33379132-33379133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140690721	chr12:33379167-33379168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191364499	chr12:33379171-33379172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550509240	chr12:33379174-33379175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374236352	chr12:33379210-33379211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578222537	chr12:33379240-33379241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145651674	chr12:33379340-33379341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542476783	chr12:33379371-33379372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561164217	chr12:33379372-33379373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368830454	chr12:33379380-33379381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10772055	chr12:33379440-33379441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs181390478	chr12:33379449-33379450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539741984	chr12:33379472-33379473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542723340	chr12:33379532-33379533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4142891	chr12:33379603-33379604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576456212	chr12:33379622-33379623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566653012	chr12:33379623-33379624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148078445	chr12:33379689-33379690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564114113	chr12:33379751-33379752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77065164	chr12:33379754-33379755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370024601	chr12:33379755-33379756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533284971	chr12:33379785-33379786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186832765	chr12:33379801-33379802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560197542	chr12:33379850-33379851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533938750	chr12:33379870-33379871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548695131	chr12:33379920-33379921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9971778	chr12:33379925-33379926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs537528292	chr12:33379939-33379940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551965404	chr12:33379944-33379945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190670461	chr12:33379947-33379948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534224764	chr12:33379989-33379990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7967340	chr12:33380006-33380007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs567611387	chr12:33380013-33380014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372896214	chr12:33380018-33380019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7970231	chr12:33380031-33380032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs57502100	chr12:33380053-33380054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556264081	chr12:33380101-33380102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140928434	chr12:33380109-33380110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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

Chromatin state (count:9 , 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	chr12:33376400-33379200	Weak transcription	Esophagus	oesophagus
3	chr12:33380600-33380800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:33398400-33398800	Enhancers	Colon Smooth Muscle	Colon
5	chr12:33399200-33400000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:33400000-33402600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:33400400-33400800	Enhancers	HepG2	liver
8	chr12:33402600-33403000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:33403000-33413200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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