Variant report

Variant	nsv983449
Chromosome Location	chr12:9743047-9746698
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2374767	chr12:9743058-9743059	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528347626	chr12:9743060-9743061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116017695	chr12:9743063-9743064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs118134021	chr12:9743238-9743239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372465368	chr12:9743242-9743243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs16925540	chr12:9743286-9743287	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs118044466	chr12:9743473-9743474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12300846	chr12:9743484-9743485	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs7307684	chr12:9743527-9743528	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs7310864	chr12:9743548-9743549	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115053517	chr12:9743651-9743652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10743778	chr12:9743656-9743657	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567428487	chr12:9743701-9743702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111461564	chr12:9743707-9743708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191162596	chr12:9743735-9743736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114559094	chr12:9743739-9743740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546746976	chr12:9743741-9743742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143241098	chr12:9743759-9743760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566870378	chr12:9743783-9743784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10743779	chr12:9743799-9743800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184759209	chr12:9743871-9743872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190220098	chr12:9743885-9743886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373182927	chr12:9743906-9743907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7308112	chr12:9743924-9743925	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs147515922	chr12:9744048-9744049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377448960	chr12:9744119-9744120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148131077	chr12:9744173-9744174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568614768	chr12:9744213-9744214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141209714	chr12:9744262-9744263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554748330	chr12:9744278-9744279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150732955	chr12:9744317-9744318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139065302	chr12:9744354-9744355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116435499	chr12:9744361-9744362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs118173216	chr12:9744411-9744412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193157165	chr12:9744423-9744424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556487407	chr12:9744442-9744443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574743995	chr12:9744515-9744516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34468378	chr12:9744541-9744542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4542498	chr12:9744563-9744564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552778421	chr12:9744610-9744611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61913638	chr12:9744627-9744628	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs74062898	chr12:9744728-9744729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs143984812	chr12:9744803-9744804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185355025	chr12:9744807-9744808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116946902	chr12:9744814-9744815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146041194	chr12:9744893-9744894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565217919	chr12:9744910-9744911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71447591	chr12:9744927-9744928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71447592	chr12:9744930-9744931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78704593	chr12:9744996-9744997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9723400-9750600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:9734400-9763000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:9736000-9760200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:9738200-9759600	Weak transcription	Primary T cells from cord blood	blood
5	chr12:9740400-9744000	Enhancers	HepG2	liver
6	chr12:9742600-9743600	Weak transcription	Liver	Liver
7	chr12:9743200-9743400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:9743400-9745600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:9743600-9744000	Enhancers	Liver	Liver
10	chr12:9744600-9748600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:9744600-9755800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:9745600-9746000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:9745600-9755600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:9745800-9750000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr12:9746000-9746200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:9746000-9760000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:9746200-9748800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:9746600-9756400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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