Variant report

Variant	esv3433532
Chromosome Location	chr9:73207932-73210080
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	chr9:73207124..73209818-chr9:73212763..73214448,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568304604	chr9:73207947-73207948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143395041	chr9:73207954-73207955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148367894	chr9:73207969-73207970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12685674	chr9:73208013-73208014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142181263	chr9:73208042-73208043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539385930	chr9:73208092-73208093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527552986	chr9:73208105-73208106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557340668	chr9:73208107-73208108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577076662	chr9:73208115-73208116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540844174	chr9:73208141-73208142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541365606	chr9:73208168-73208169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146358333	chr9:73208270-73208271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190402391	chr9:73208310-73208311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542077680	chr9:73208366-73208367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115721623	chr9:73208409-73208410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7873981	chr9:73208446-73208447	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs374000679	chr9:73208497-73208498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7866667	chr9:73208537-73208538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112861313	chr9:73208540-73208541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551983309	chr9:73208610-73208611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182282303	chr9:73208611-73208612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113564776	chr9:73208655-73208656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561713610	chr9:73208677-73208678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368261891	chr9:73208711-73208712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2153367	chr9:73208783-73208784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371961867	chr9:73208858-73208859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs137969516	chr9:73208896-73208897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550518763	chr9:73208931-73208932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543617523	chr9:73208974-73208975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565721937	chr9:73208982-73208983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563580685	chr9:73208994-73208995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144276597	chr9:73209038-73209039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs398113512	chr9:73209043-73209044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576084436	chr9:73209044-73209045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs58593593	chr9:73209047-73209048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550959578	chr9:73209073-73209074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566165398	chr9:73209178-73209179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534963837	chr9:73209179-73209180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553223170	chr9:73209183-73209184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575045147	chr9:73209200-73209201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149863072	chr9:73209205-73209206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536002519	chr9:73209215-73209216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112890166	chr9:73209237-73209238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534610810	chr9:73209275-73209276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550844655	chr9:73209306-73209307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557273840	chr9:73209324-73209325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78039931	chr9:73209342-73209343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10117808	chr9:73209389-73209390	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs145958080	chr9:73209473-73209474	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs78799520	chr9:73209532-73209533	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Melanoma	22183965	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD
Autism	21484199	CNVD
Breast cancer	22737080	CNVD
Malignant peripheral nerve sheath tumor	22811580	CNVD
Leprosy	22719964	CNVD
Primary ovarian insufficiency	22879975	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73189600-73213400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:73201200-73216200	Weak transcription	Lung	lung
3	chr9:73203000-73215200	Weak transcription	Fetal Brain Male	brain
4	chr9:73204600-73215200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:73205000-73209400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr9:73205000-73209400	Weak transcription	HSMMtube	muscle
7	chr9:73205000-73209600	Weak transcription	Brain Anterior Caudate	brain
8	chr9:73205000-73209600	Weak transcription	Left Ventricle	heart
9	chr9:73205000-73209800	Weak transcription	Brain Angular Gyrus	brain
10	chr9:73205000-73215000	Weak transcription	Brain Substantia Nigra	brain
11	chr9:73205000-73215200	Weak transcription	Right Atrium	heart
12	chr9:73205200-73209200	Weak transcription	HSMM	muscle
13	chr9:73205400-73214800	Weak transcription	NH-A	brain
14	chr9:73205400-73215600	Weak transcription	HMEC	breast
15	chr9:73205600-73209800	Weak transcription	Adipose Nuclei	Adipose
16	chr9:73206000-73209200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr9:73206200-73209400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:73206200-73209600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr9:73206200-73215000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr9:73206200-73215400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr9:73206400-73209200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:73206400-73209400	Weak transcription	NHLF	lung
23	chr9:73206400-73212400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:73206400-73215000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:73206600-73209000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:73206600-73209200	Weak transcription	Osteobl	bone
27	chr9:73206600-73209400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:73206600-73209400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:73206600-73227800	Weak transcription	Aorta	Aorta
30	chr9:73206800-73209600	Weak transcription	Colon Smooth Muscle	Colon
31	chr9:73206800-73212600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:73207000-73209200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:73207200-73209400	Weak transcription	NHDF-Ad	bronchial
34	chr9:73207600-73209600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr9:73207800-73208200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:73207800-73208600	Enhancers	Fetal Lung	lung
37	chr9:73208200-73208400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:73208400-73209200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr9:73209000-73209400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr9:73209200-73210000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr9:73209200-73210400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:73209200-73210400	Enhancers	HSMM	muscle
43	chr9:73209200-73210600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr9:73209200-73210600	Enhancers	Osteobl	bone
45	chr9:73209200-73210800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr9:73209400-73209800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr9:73209400-73209800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr9:73209400-73210000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:73209400-73210400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:73209400-73210400	Enhancers	Skeletal Muscle Female	skeletal muscle

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