Variant report

Variant	nsv469494
Chromosome Location	chr12:83203742-83206342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17009997	chr12:83203742-83203743	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529038220	chr12:83203762-83203763	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550407479	chr12:83203766-83203767	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374903828	chr12:83203776-83203777	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539156708	chr12:83203784-83203785	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557423468	chr12:83203802-83203803	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566487371	chr12:83203821-83203822	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534195623	chr12:83203850-83203851	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573280034	chr12:83203900-83203901	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540800480	chr12:83203940-83203941	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571955708	chr12:83203952-83203953	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567875027	chr12:83203988-83203989	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574365041	chr12:83204006-83204007	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556013322	chr12:83204009-83204010	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565373871	chr12:83204036-83204037	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577457852	chr12:83204118-83204119	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77795669	chr12:83204171-83204172	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556332873	chr12:83204186-83204187	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201766092	chr12:83204192-83204193	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574411827	chr12:83204193-83204194	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114290442	chr12:83204328-83204329	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544970399	chr12:83204457-83204458	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556834579	chr12:83204460-83204461	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146377194	chr12:83204481-83204482	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545485432	chr12:83204498-83204499	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73157494	chr12:83204526-83204527	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs76684977	chr12:83204530-83204531	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554175780	chr12:83204531-83204532	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541505008	chr12:83204549-83204550	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574172882	chr12:83204563-83204564	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527700450	chr12:83204578-83204579	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11115437	chr12:83204590-83204591	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs139138779	chr12:83204620-83204621	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs561646046	chr12:83204655-83204656	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs529191613	chr12:83204690-83204691	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs199513419	chr12:83204757-83204758	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs550321454	chr12:83204788-83204789	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs371439518	chr12:83204871-83204872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187329291	chr12:83204872-83204873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200518469	chr12:83204929-83204930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553600361	chr12:83204930-83204931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566482828	chr12:83204934-83204935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533762609	chr12:83204935-83204936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555113028	chr12:83205043-83205044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11830781	chr12:83205083-83205084	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs191692120	chr12:83205086-83205087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10506882	chr12:83205152-83205153	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs73157495	chr12:83205201-83205202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545137114	chr12:83205270-83205271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554223324	chr12:83205328-83205329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83179800-83211000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:83190200-83207800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:83191200-83205800	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:83193600-83219000	Weak transcription	Brain Angular Gyrus	brain
5	chr12:83194200-83219600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:83194800-83207800	Weak transcription	Fetal Lung	lung
7	chr12:83195200-83208800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:83195400-83207800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:83196400-83250800	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:83197600-83208600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:83197600-83208800	Weak transcription	Fetal Stomach	stomach
12	chr12:83197600-83213800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:83198800-83207600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:83198800-83207800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:83198800-83208200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:83200400-83212400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:83201400-83203800	Weak transcription	Brain Substantia Nigra	brain
18	chr12:83201400-83212200	Weak transcription	Brain Anterior Caudate	brain
19	chr12:83203000-83204000	Enhancers	Brain Hippocampus Middle	brain
20	chr12:83203200-83203800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:83203200-83203800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr12:83203400-83203800	Enhancers	Brain Cingulate Gyrus	brain
23	chr12:83203400-83205400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:83203800-83204200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:83203800-83204600	Enhancers	Brain Substantia Nigra	brain
26	chr12:83203800-83208200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:83203800-83211800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:83204000-83204400	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:83204200-83204600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr12:83204400-83204600	Enhancers	Brain Hippocampus Middle	brain
31	chr12:83204600-83204800	Active TSS	Spleen	Spleen
32	chr12:83204600-83207000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:83204600-83207600	Weak transcription	Brain Substantia Nigra	brain
34	chr12:83204600-83211400	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:83205400-83206800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:83205800-83207400	Enhancers	Colon Smooth Muscle	Colon

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