Variant report

Variant	esv2616653
Chromosome Location	chr1:9439330-9441001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9431115..9433749-chr1:9440767..9442429,2	K562	blood:
2	chr1:9440767..9442715-chr1:9442900..9445277,3	K562	blood:
3	chr1:9439226..9441134-chr1:9446219..9450095,3	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555221557	chr1:9439361-9439362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552584353	chr1:9439362-9439363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs28588882	chr1:9439371-9439372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189593749	chr1:9439390-9439391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535126806	chr1:9439411-9439412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553467354	chr1:9439414-9439415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568691339	chr1:9439424-9439425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536082624	chr1:9439444-9439445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573494424	chr1:9439455-9439456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12090235	chr1:9439475-9439476	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs142322893	chr1:9439506-9439507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546134217	chr1:9439529-9439530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114138538	chr1:9439535-9439536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572716722	chr1:9439540-9439541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539963131	chr1:9439560-9439561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146591589	chr1:9439565-9439566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528942323	chr1:9439576-9439577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572255263	chr1:9439583-9439584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191345579	chr1:9439602-9439603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562337081	chr1:9439603-9439604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs5025598	chr1:9439604-9439605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs551343491	chr1:9439649-9439650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139117881	chr1:9439671-9439672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185001712	chr1:9439672-9439673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546993848	chr1:9439675-9439676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201774871	chr1:9439746-9439747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72643868	chr1:9439751-9439752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs568602429	chr1:9439759-9439760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189303482	chr1:9439774-9439775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535943493	chr1:9439782-9439783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551199652	chr1:9439788-9439789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59159182	chr1:9439794-9439795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs70979738	chr1:9439795-9439796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2311016	chr1:9439796-9439797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59214049	chr1:9439799-9439800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376578889	chr1:9439802-9439803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9434763	chr1:9439804-9439805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181605058	chr1:9439806-9439807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2311015	chr1:9439810-9439811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4071660	chr1:9439814-9439815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57596196	chr1:9439816-9439817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2311014	chr1:9439819-9439820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs3057849	chr1:9439821-9439822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569310421	chr1:9439823-9439824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540644821	chr1:9439827-9439828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370911848	chr1:9439844-9439845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72505040	chr1:9439845-9439846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs3057847	chr1:9439846-9439847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs70979739	chr1:9439847-9439848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370441720	chr1:9439860-9439861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17621639	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164919	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9417000-9444800	Weak transcription	Hela-S3	cervix
2	chr1:9422000-9442200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:9432800-9442200	Weak transcription	Spleen	Spleen
4	chr1:9436600-9442200	Weak transcription	Esophagus	oesophagus
5	chr1:9436800-9442200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:9436800-9444400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:9437400-9440800	Weak transcription	Fetal Intestine Small	intestine
8	chr1:9437400-9442400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:9437400-9443200	Weak transcription	Brain Anterior Caudate	brain
10	chr1:9437400-9444400	Weak transcription	Small Intestine	intestine
11	chr1:9437600-9440600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:9437600-9444400	Weak transcription	Right Atrium	heart
13	chr1:9437800-9442200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:9437800-9442800	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:9437800-9442800	Weak transcription	HSMMtube	muscle
16	chr1:9437800-9444200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:9438400-9443400	Weak transcription	Right Ventricle	heart
18	chr1:9438400-9444200	Weak transcription	Left Ventricle	heart
19	chr1:9438400-9444400	Weak transcription	Lung	lung
20	chr1:9438400-9447200	Weak transcription	Aorta	Aorta
21	chr1:9438600-9440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:9438600-9442200	Weak transcription	Ovary	ovary
23	chr1:9438600-9444000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:9438600-9444200	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:9438600-9447600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:9438800-9442200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:9438800-9443600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:9438800-9444200	Weak transcription	Psoas Muscle	Psoas
29	chr1:9439000-9439600	Enhancers	Adipose Nuclei	Adipose
30	chr1:9439200-9439400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:9439200-9439600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:9439400-9443400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:9439600-9441000	Weak transcription	Adipose Nuclei	Adipose
34	chr1:9440600-9440800	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr1:9440600-9441200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:9440600-9441600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:9440800-9441400	Enhancers	Fetal Intestine Small	intestine
38	chr1:9440800-9441400	Bivalent Enhancer	HepG2	liver
39	chr1:9441000-9441200	Enhancers	Fetal Intestine Large	intestine
40	chr1:9441000-9441400	Enhancers	Adipose Nuclei	Adipose

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