Variant report

Variant	esv3451035
Chromosome Location	chr9:6217902-6220000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573382102	chr9:6217906-6217907	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs540750281	chr9:6217912-6217913	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs373760369	chr9:6217989-6217990	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537175695	chr9:6218024-6218025	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557397122	chr9:6218056-6218057	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188204518	chr9:6218065-6218066	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191863053	chr9:6218069-6218070	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373200194	chr9:6218107-6218108	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575827864	chr9:6218111-6218112	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545638828	chr9:6218152-6218153	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202236962	chr9:6218160-6218161	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563826355	chr9:6218324-6218325	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34194169	chr9:6218325-6218326	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373923015	chr9:6218344-6218345	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78121143	chr9:6218346-6218347	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549379767	chr9:6218414-6218415	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs182971615	chr9:6218433-6218434	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs528567371	chr9:6218457-6218458	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs188412929	chr9:6218477-6218478	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs564544145	chr9:6218483-6218484	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs116109677	chr9:6218486-6218487	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs572412936	chr9:6218487-6218488	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs541318350	chr9:6218506-6218507	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs539259833	chr9:6218510-6218511	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs191349938	chr9:6218545-6218546	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs566117795	chr9:6218595-6218596	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs376395298	chr9:6218596-6218597	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs536976363	chr9:6218607-6218608	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs71328180	chr9:6218608-6218609	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs554915923	chr9:6218610-6218611	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs7869051	chr9:6218625-6218626	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs370821187	chr9:6218626-6218627	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs573317676	chr9:6218635-6218636	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs7858042	chr9:6218637-6218638	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs7869067	chr9:6218651-6218652	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs531673234	chr9:6218661-6218662	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs527577482	chr9:6218685-6218686	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs183690696	chr9:6218697-6218698	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs548397291	chr9:6218712-6218713	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs534376281	chr9:6218732-6218733	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs533994204	chr9:6218788-6218789	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs547741811	chr9:6218806-6218807	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs113808135	chr9:6218842-6218843	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs200982905	chr9:6218900-6218901	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs2066358	chr9:6218924-6218925	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs2066359	chr9:6218926-6218927	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs2066360	chr9:6218927-6218928	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs2066361	chr9:6218960-6218961	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs79203103	chr9:6219010-6219011	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs13301145	chr9:6219078-6219079	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6213400-6218000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:6215000-6218000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr9:6215000-6218000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:6215400-6218200	Active TSS	Fetal Brain Female	brain
5	chr9:6215400-6219600	Active TSS	Right Atrium	heart
6	chr9:6215600-6218400	Active TSS	Brain Germinal Matrix	brain
7	chr9:6215800-6218400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:6215800-6218600	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr9:6216000-6218000	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr9:6216000-6223800	Weak transcription	Fetal Brain Male	brain
11	chr9:6216800-6218000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:6217000-6218200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr9:6217200-6218200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:6217200-6220800	Weak transcription	Left Ventricle	heart
15	chr9:6217400-6218400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr9:6217400-6218400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:6217400-6218600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr9:6217600-6218000	Enhancers	Fetal Kidney	kidney
19	chr9:6217600-6218000	Enhancers	Lung	lung
20	chr9:6217600-6218200	Enhancers	Stomach Mucosa	stomach
21	chr9:6217600-6218200	Flanking Active TSS	Hela-S3	cervix
22	chr9:6217600-6218200	Enhancers	HMEC	breast
23	chr9:6217600-6218200	Enhancers	Osteobl	bone
24	chr9:6217600-6218400	Active TSS	Rectal Smooth Muscle	rectum
25	chr9:6217600-6218400	Flanking Active TSS	HUVEC	blood vessel
26	chr9:6217600-6218600	Active TSS	Stomach Smooth Muscle	stomach
27	chr9:6217800-6218000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr9:6217800-6218000	Active TSS	Colon Smooth Muscle	Colon
29	chr9:6217800-6218000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr9:6217800-6218000	Enhancers	Ovary	ovary
31	chr9:6217800-6218200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:6217800-6218200	Active TSS	Brain Anterior Caudate	brain
33	chr9:6217800-6218200	Active TSS	Brain Hippocampus Middle	brain
34	chr9:6217800-6218200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr9:6217800-6218200	Active TSS	Fetal Muscle Leg	muscle
36	chr9:6217800-6218200	Active TSS	Fetal Stomach	stomach
37	chr9:6217800-6218400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr9:6217800-6218400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:6217800-6218400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:6217800-6218400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr9:6217800-6218400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr9:6217800-6218400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr9:6217800-6218400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr9:6217800-6218400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr9:6217800-6218400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr9:6217800-6218400	Enhancers	Fetal Lung	lung
47	chr9:6217800-6218400	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr9:6217800-6218400	Flanking Active TSS	NHDF-Ad	bronchial
49	chr9:6217800-6218400	Enhancers	NHEK	skin
50	chr9:6217800-6218600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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