Variant report

Variant	nsv557703
Chromosome Location	chr12:20766559-20783761
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 719 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:719 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10743380	chr12:20766559-20766560	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143792143	chr12:20766564-20766565	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs577466892	chr12:20766579-20766580	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs111862771	chr12:20766587-20766588	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs368761542	chr12:20766607-20766608	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs147222953	chr12:20766612-20766613	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs559529275	chr12:20766653-20766654	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs546429735	chr12:20766670-20766671	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs562832896	chr12:20766671-20766672	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs7308381	chr12:20766685-20766686	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541838335	chr12:20766700-20766701	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs534448352	chr12:20766707-20766708	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs7308311	chr12:20766761-20766762	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577907790	chr12:20766762-20766763	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs568473601	chr12:20766772-20766773	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs546464071	chr12:20766791-20766792	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs187394289	chr12:20766833-20766834	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35380579	chr12:20766891-20766892	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552387380	chr12:20766914-20766915	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200949514	chr12:20766940-20766941	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536289922	chr12:20766952-20766953	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112240168	chr12:20767029-20767030	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568855239	chr12:20767033-20767034	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537972581	chr12:20767039-20767040	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35759872	chr12:20767082-20767083	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145509985	chr12:20767092-20767093	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113131282	chr12:20767093-20767094	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35779749	chr12:20767094-20767095	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs5796874	chr12:20767095-20767096	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554251076	chr12:20767162-20767163	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544483606	chr12:20767237-20767238	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568024601	chr12:20767246-20767247	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548716700	chr12:20767254-20767255	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146001963	chr12:20767295-20767296	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78711217	chr12:20767326-20767327	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201420164	chr12:20767358-20767359	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546079033	chr12:20767360-20767361	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141919213	chr12:20767361-20767362	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375421199	chr12:20767362-20767363	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138886008	chr12:20767367-20767368	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149322706	chr12:20767387-20767388	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190392679	chr12:20767444-20767445	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368660089	chr12:20767560-20767561	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76211265	chr12:20767655-20767656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371242890	chr12:20767678-20767679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527630313	chr12:20767698-20767699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183075330	chr12:20767794-20767795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73236323	chr12:20767812-20767813	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs188408671	chr12:20767841-20767842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555967143	chr12:20767852-20767853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
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
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
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20756200-20780200	Weak transcription	Fetal Stomach	stomach
2	chr12:20756200-20784400	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:20761200-20769200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:20761400-20771000	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:20761400-20781400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:20761400-20784200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:20761600-20769200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:20763000-20780200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:20763600-20768000	Weak transcription	Fetal Intestine Small	intestine
10	chr12:20764800-20769200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:20764800-20769200	Weak transcription	Osteobl	bone
12	chr12:20765200-20781400	Weak transcription	HUVEC	blood vessel
13	chr12:20765400-20771800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:20765800-20769200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:20765800-20771000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:20765800-20782000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:20766200-20766600	Enhancers	Right Ventricle	heart
18	chr12:20766200-20766600	Genic enhancers	Hela-S3	cervix
19	chr12:20766200-20766800	Flanking Active TSS	A549	lung
20	chr12:20766200-20767000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr12:20766200-20767000	Strong transcription	Fetal Intestine Large	intestine
22	chr12:20766400-20766600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:20766400-20766600	Genic enhancers	Aorta	Aorta
24	chr12:20766400-20766800	Genic enhancers	Left Ventricle	heart
25	chr12:20766400-20767600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr12:20766600-20780400	Weak transcription	Aorta	Aorta
27	chr12:20766600-20787800	Weak transcription	Right Ventricle	heart
28	chr12:20766600-20805000	Strong transcription	Hela-S3	cervix
29	chr12:20766800-20769200	Weak transcription	Left Ventricle	heart
30	chr12:20766800-20775000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:20767000-20768000	Weak transcription	Fetal Intestine Large	intestine
32	chr12:20767600-20781800	Weak transcription	Ovary	ovary
33	chr12:20767600-20787800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:20767800-20782800	Weak transcription	Fetal Kidney	kidney
35	chr12:20768000-20769400	Strong transcription	Fetal Intestine Small	intestine
36	chr12:20768000-20772200	Strong transcription	Fetal Intestine Large	intestine
37	chr12:20768000-20813600	Weak transcription	Colonic Mucosa	Colon
38	chr12:20768600-20782600	Weak transcription	NH-A	brain
39	chr12:20769200-20769400	Genic enhancers	Left Ventricle	heart
40	chr12:20769200-20769600	ZNF genes & repeats	Fetal Brain Male	brain
41	chr12:20769200-20769800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr12:20769200-20769800	Strong transcription	Rectal Smooth Muscle	rectum
43	chr12:20769200-20769800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr12:20769200-20769800	Strong transcription	Osteobl	bone
45	chr12:20769200-20771000	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr12:20769400-20769800	Strong transcription	Left Ventricle	heart
47	chr12:20769400-20779400	Weak transcription	Fetal Intestine Small	intestine
48	chr12:20769800-20773000	Weak transcription	Left Ventricle	heart
49	chr12:20769800-20781200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:20769800-20781200	Weak transcription	Osteobl	bone

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