Variant report

Variant	esv3343630
Chromosome Location	chr3:47232548-47238746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47212755..47215203-chr3:47233129..47236003,2	K562	blood:
2	chr3:47206313..47209230-chr3:47234534..47237007,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL18-6	chr3:47234969-47239512	NONHSAT089483

Extended variants
information (count: 183 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550738883	chr3:47232577-47232578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569258226	chr3:47232679-47232680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142563612	chr3:47232692-47232693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558130364	chr3:47232716-47232717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566864255	chr3:47232717-47232718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533912840	chr3:47232733-47232734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555845953	chr3:47232768-47232769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4627772	chr3:47232789-47232790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs542075015	chr3:47232808-47232809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146466988	chr3:47232902-47232903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575469637	chr3:47232940-47232941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546121719	chr3:47232961-47232962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370990477	chr3:47232977-47232978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2350642	chr3:47233079-47233080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs192396974	chr3:47233081-47233082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140890358	chr3:47233197-47233198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34632314	chr3:47233225-47233226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143199122	chr3:47233313-47233314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13078181	chr3:47233317-47233318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs185547637	chr3:47233338-47233339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374086614	chr3:47233350-47233351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201659931	chr3:47233355-47233356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146658012	chr3:47233370-47233371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552075761	chr3:47233521-47233522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35672004	chr3:47233576-47233577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567018956	chr3:47233594-47233595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534233957	chr3:47233602-47233603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62246455	chr3:47233621-47233622	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs35048831	chr3:47233625-47233626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189595056	chr3:47233711-47233712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556976038	chr3:47233712-47233713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556646630	chr3:47233776-47233777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575530807	chr3:47233791-47233792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545645258	chr3:47233882-47233883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558065356	chr3:47233890-47233891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573030634	chr3:47233927-47233928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540268799	chr3:47233932-47233933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577422635	chr3:47233950-47233951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538305558	chr3:47233994-47233995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548566850	chr3:47234003-47234004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74813772	chr3:47234013-47234014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181528229	chr3:47234022-47234023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528077711	chr3:47234036-47234037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573263590	chr3:47234040-47234041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543908704	chr3:47234067-47234068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562219490	chr3:47234088-47234089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150365708	chr3:47234125-47234126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551668323	chr3:47234150-47234151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6781941	chr3:47234158-47234159	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs542827071	chr3:47234162-47234163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Medullary thyroid carcinoma	18765511	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47207000-47253800	Weak transcription	Aorta	Aorta
2	chr3:47207200-47235800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:47208000-47249600	Weak transcription	Ovary	ovary
4	chr3:47208200-47232600	Weak transcription	Fetal Brain Female	brain
5	chr3:47208200-47256400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:47208200-47276600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:47217800-47236600	Weak transcription	Right Ventricle	heart
8	chr3:47219400-47243400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:47221000-47250200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:47221400-47236000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:47222600-47244200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:47222800-47233000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr3:47222800-47233400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:47222800-47235400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:47222800-47236800	Weak transcription	Left Ventricle	heart
16	chr3:47222800-47249000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:47222800-47249400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:47223000-47236400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:47223200-47235200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:47223200-47240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:47223400-47233400	Weak transcription	Brain Anterior Caudate	brain
22	chr3:47223400-47242800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr3:47223400-47245200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:47223400-47256600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:47223800-47233000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr3:47223800-47252600	Weak transcription	Fetal Muscle Leg	muscle
27	chr3:47223800-47269200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr3:47224200-47250200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:47224600-47233400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:47228400-47240000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:47233400-47234400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:47234400-47234600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:47235200-47236200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:47235800-47236000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr3:47236000-47236200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr3:47236000-47236600	Weak transcription	Brain Angular Gyrus	brain
37	chr3:47236200-47256800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:47236600-47236800	Enhancers	Brain Angular Gyrus	brain
39	chr3:47236600-47236800	Enhancers	Right Ventricle	heart
40	chr3:47236800-47248400	Weak transcription	Brain Angular Gyrus	brain
41	chr3:47238400-47256400	Weak transcription	Right Atrium	heart

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