Variant report

Variant	esv2761482
Chromosome Location	chr9:6084602-6134787
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	chr9:6107045..6110016-chr9:6112328..6114714,2	K562	blood:
2	chr9:6107045..6110016-chr9:6112328..6114714,2	K562	blood:

Extended variants
information (count: 1786 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1786 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374356005	chr9:6084619-6084620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541490984	chr9:6084651-6084652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574518796	chr9:6084656-6084657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182915806	chr9:6084677-6084678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560530848	chr9:6084686-6084687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572514831	chr9:6084741-6084742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368533934	chr9:6084767-6084768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546219186	chr9:6084804-6084805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187444327	chr9:6084821-6084822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532013845	chr9:6084825-6084826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530191223	chr9:6084837-6084838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147025526	chr9:6084895-6084896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562327792	chr9:6084905-6084906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117657766	chr9:6085000-6085001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547889694	chr9:6085011-6085012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs340933	chr9:6085078-6085079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs138156356	chr9:6085110-6085111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192294906	chr9:6085114-6085115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570318520	chr9:6085117-6085118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538164052	chr9:6085129-6085130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182639892	chr9:6085131-6085132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187335554	chr9:6085234-6085235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114041684	chr9:6085264-6085265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149580927	chr9:6085322-6085323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554356568	chr9:6085334-6085335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10975426	chr9:6085344-6085345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs546256024	chr9:6085358-6085359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192518517	chr9:6085365-6085366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115774115	chr9:6085387-6085388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76478152	chr9:6085396-6085397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562202028	chr9:6085403-6085404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529530481	chr9:6085417-6085418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541221522	chr9:6085472-6085473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143277400	chr9:6085493-6085494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148333403	chr9:6085514-6085515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551827511	chr9:6085531-6085532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142132084	chr9:6085575-6085576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116190905	chr9:6085591-6085592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184373934	chr9:6085595-6085596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568263196	chr9:6085649-6085650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190488517	chr9:6085654-6085655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553995718	chr9:6085674-6085675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537857204	chr9:6085741-6085742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550856080	chr9:6085745-6085746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567583506	chr9:6085806-6085807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146377740	chr9:6085807-6085808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553230417	chr9:6085826-6085827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539959105	chr9:6085840-6085841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139738754	chr9:6085877-6085878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569931041	chr9:6085903-6085904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6081600-6087200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr9:6082000-6087800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:6084200-6087600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:6085800-6086200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:6087000-6087800	Enhancers	HMEC	breast
6	chr9:6087200-6087400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr9:6087200-6088000	Enhancers	NHEK	skin
8	chr9:6087400-6087800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:6087400-6087800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:6087400-6087800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:6087600-6087800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:6087600-6087800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr9:6087600-6087800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:6087800-6089400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:6087800-6089400	Weak transcription	HMEC	breast
16	chr9:6087800-6090200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:6087800-6090200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:6087800-6097200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:6088000-6090000	Weak transcription	NHEK	skin
20	chr9:6089400-6089600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:6089400-6091400	Enhancers	HMEC	breast
22	chr9:6089600-6090200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr9:6089600-6090600	Enhancers	Psoas Muscle	Psoas
24	chr9:6089800-6091000	Enhancers	Fetal Heart	heart
25	chr9:6090000-6090600	Enhancers	Left Ventricle	heart
26	chr9:6090000-6090600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr9:6090000-6090800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr9:6090000-6091200	Enhancers	NHEK	skin
29	chr9:6090200-6090600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr9:6090200-6090600	Enhancers	Placenta	Placenta
31	chr9:6090200-6091000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr9:6090200-6091200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:6090200-6091800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr9:6090400-6090800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:6090400-6091200	Enhancers	NHDF-Ad	bronchial
36	chr9:6090600-6091600	Weak transcription	Placenta	Placenta
37	chr9:6091000-6098200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr9:6091200-6096400	Weak transcription	NHEK	skin
39	chr9:6091200-6096600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:6091200-6096600	Weak transcription	NHDF-Ad	bronchial
41	chr9:6091600-6091800	Enhancers	Placenta	Placenta
42	chr9:6091800-6096400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr9:6096400-6099400	Enhancers	NHEK	skin
44	chr9:6096400-6100000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:6096400-6100200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr9:6096400-6100200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr9:6096400-6100400	Enhancers	HMEC	breast
48	chr9:6096600-6097600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:6096600-6099000	Enhancers	Osteobl	bone
50	chr9:6096600-6099200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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