Variant report

Variant	nsv819704
Chromosome Location	chr12:40441985-40442875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:40442565..40445105-chr12:40454230..40455895,2	K562	blood:
2	12:40441273-40454218..12:40703633-40711447	GM12878	blood:
3	chr12:40442497..40444511-chr12:40489618..40491623,2	K562	blood:
4	chr12:40434942..40437888-chr12:40438406..40442021,3	MCF-7	breast:
5	chr12:40433481..40436238-chr12:40442156..40444091,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188906	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370292251	chr12:40442016-40442017	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373671479	chr12:40442022-40442023	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373932303	chr12:40442039-40442040	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs151140703	chr12:40442072-40442073	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs537366784	chr12:40442083-40442084	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141164228	chr12:40442093-40442094	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574381835	chr12:40442095-40442096	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182683713	chr12:40442105-40442106	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10878036	chr12:40442111-40442112	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs572108135	chr12:40442133-40442134	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545872887	chr12:40442187-40442188	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs17483419	chr12:40442253-40442254	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576282421	chr12:40442260-40442261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187783153	chr12:40442298-40442299	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs146951742	chr12:40442305-40442306	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs34613134	chr12:40442314-40442315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200048556	chr12:40442323-40442324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs17518099	chr12:40442330-40442331	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs560090449	chr12:40442360-40442361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547775087	chr12:40442371-40442372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs530289168	chr12:40442381-40442382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374302738	chr12:40442407-40442408	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs575897411	chr12:40442408-40442409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs527712910	chr12:40442442-40442443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs533268540	chr12:40442452-40442453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs551436333	chr12:40442456-40442457	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs569940751	chr12:40442476-40442477	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540141296	chr12:40442537-40442538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs17518106	chr12:40442583-40442584	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562056545	chr12:40442636-40442637	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs138037106	chr12:40442655-40442656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs61931530	chr12:40442712-40442713	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs80070285	chr12:40442724-40442725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569082105	chr12:40442798-40442799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs527420980	chr12:40442820-40442821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs533021692	chr12:40442849-40442850	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40394400-40448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:40405400-40445200	Weak transcription	K562	blood
3	chr12:40419000-40447600	Weak transcription	Hela-S3	cervix
4	chr12:40421600-40453400	Weak transcription	Left Ventricle	heart
5	chr12:40426400-40452800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:40428000-40452600	Weak transcription	Fetal Intestine Small	intestine
7	chr12:40439600-40444200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:40441000-40442200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:40441000-40442200	Enhancers	A549	lung
10	chr12:40441600-40442200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr12:40442200-40443400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:40442200-40447600	Weak transcription	A549	lung
13	chr12:40442200-40451400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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