Variant report

Variant	esv2763534
Chromosome Location	chr6:12196490-12198774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9471162	chr6:12196490-12196491	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548185861	chr6:12196527-12196528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374406908	chr6:12196530-12196531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539081533	chr6:12196539-12196540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9380894	chr6:12196604-12196605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
6	rs372412158	chr6:12196630-12196631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550493732	chr6:12196666-12196667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570301337	chr6:12196684-12196685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114915593	chr6:12196740-12196741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553144291	chr6:12196741-12196742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566965224	chr6:12196790-12196791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535447089	chr6:12196846-12196847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377742480	chr6:12196859-12196860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376109152	chr6:12196870-12196871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555753313	chr6:12196886-12196887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575744592	chr6:12196890-12196891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1040992	chr6:12196910-12196911	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs558535678	chr6:12196933-12196934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1040993	chr6:12196938-12196939	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs76645982	chr6:12196939-12196940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559153353	chr6:12196957-12196958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180998580	chr6:12197018-12197019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142085565	chr6:12197045-12197046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561329564	chr6:12197064-12197065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530463192	chr6:12197120-12197121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78671317	chr6:12197141-12197142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570415307	chr6:12197166-12197167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1040994	chr6:12197213-12197214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
29	rs559080391	chr6:12197289-12197290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566823113	chr6:12197322-12197323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535929544	chr6:12197434-12197435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs219973	chr6:12197452-12197453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs569272640	chr6:12197457-12197458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185162594	chr6:12197522-12197523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558452994	chr6:12197523-12197524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189969125	chr6:12197572-12197573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534106251	chr6:12197601-12197602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554323519	chr6:12197606-12197607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140203413	chr6:12197620-12197621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182555321	chr6:12197646-12197647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553894297	chr6:12197649-12197650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144028523	chr6:12197658-12197659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146448372	chr6:12197665-12197666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543813832	chr6:12197671-12197672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566736036	chr6:12197672-12197673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141048840	chr6:12197678-12197679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533277571	chr6:12197685-12197686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376729092	chr6:12197748-12197749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546605772	chr6:12197762-12197763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11385503	chr6:12197785-12197786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD
Pancreatic cancer	17952125	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12176200-12203400	Weak transcription	A549	lung
2	chr6:12185800-12200800	Weak transcription	Aorta	Aorta
3	chr6:12196000-12197000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:12196200-12196800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:12196200-12197000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:12196200-12197000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:12196200-12197000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:12196200-12197000	Enhancers	NHEK	skin
9	chr6:12196400-12196800	Enhancers	HSMMtube	muscle
10	chr6:12196400-12196800	Enhancers	Osteobl	bone
11	chr6:12196400-12197000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:12196400-12197200	Enhancers	HSMM	muscle
13	chr6:12196600-12197000	Enhancers	HUVEC	blood vessel
14	chr6:12196600-12197200	Enhancers	NH-A	brain
15	chr6:12196800-12200600	Weak transcription	Osteobl	bone
16	chr6:12197000-12200600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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