Variant report

Variant	esv1838406
Chromosome Location	chr9:17895450-17932804
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1126 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1126 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10733342	chr9:17895450-17895451	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565181580	chr9:17895509-17895510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73430558	chr9:17895561-17895562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs551770565	chr9:17895584-17895585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17185232	chr9:17895621-17895622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367871184	chr9:17895710-17895711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377238249	chr9:17895711-17895712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534293950	chr9:17895748-17895749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549458033	chr9:17895836-17895837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567900239	chr9:17895871-17895872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538438794	chr9:17895919-17895920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556926445	chr9:17895925-17895926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578184365	chr9:17895941-17895942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538928593	chr9:17896031-17896032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371873320	chr9:17896032-17896033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571899525	chr9:17896090-17896091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369922066	chr9:17896118-17896119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554303898	chr9:17896126-17896127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576185286	chr9:17896214-17896215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528901553	chr9:17896217-17896218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192079044	chr9:17896218-17896219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560638404	chr9:17896236-17896237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537191607	chr9:17896244-17896245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575877139	chr9:17896276-17896277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543189423	chr9:17896294-17896295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564898241	chr9:17896312-17896313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146132464	chr9:17896313-17896314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544393864	chr9:17896316-17896317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373492188	chr9:17896354-17896355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540923699	chr9:17896355-17896356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182754515	chr9:17896357-17896358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139763242	chr9:17896361-17896362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149368156	chr9:17896362-17896363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186684203	chr9:17896374-17896375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144744580	chr9:17896414-17896415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191499547	chr9:17896433-17896434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550363789	chr9:17896458-17896459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148496172	chr9:17896473-17896474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112953861	chr9:17896488-17896489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184006776	chr9:17896505-17896506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565707470	chr9:17896528-17896529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535839173	chr9:17896529-17896530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145356020	chr9:17896537-17896538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147217853	chr9:17896541-17896542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4351504	chr9:17896579-17896580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1541257	chr9:17896592-17896593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs558722769	chr9:17896614-17896615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538334113	chr9:17896680-17896681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541357712	chr9:17896685-17896686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1541258	chr9:17896727-17896728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	21364760	CNVD
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17894000-17895600	Enhancers	Fetal Lung	lung
2	chr9:17895000-17895800	Enhancers	Hela-S3	cervix
3	chr9:17895800-17899600	Weak transcription	Hela-S3	cervix
4	chr9:17897000-17897400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:17899600-17902800	Enhancers	Hela-S3	cervix
6	chr9:17900800-17901000	Enhancers	Fetal Brain Male	brain
7	chr9:17900800-17901000	Enhancers	Fetal Muscle Leg	muscle
8	chr9:17903600-17903800	Enhancers	Pancreas	Pancrea
9	chr9:17904000-17904200	Enhancers	Aorta	Aorta
10	chr9:17904200-17905200	Weak transcription	Aorta	Aorta
11	chr9:17904800-17905200	Bivalent Enhancer	Fetal Brain Male	brain
12	chr9:17905000-17905600	Bivalent Enhancer	Brain Germinal Matrix	brain
13	chr9:17905200-17905400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr9:17905200-17905400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr9:17905200-17905400	Enhancers	Aorta	Aorta
16	chr9:17905200-17905400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
17	chr9:17905200-17905400	Bivalent Enhancer	Fetal Brain Female	brain
18	chr9:17905200-17905400	Flanking Bivalent TSS/Enh	Fetal Heart	heart
19	chr9:17905200-17905400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
20	chr9:17905200-17905400	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr9:17905200-17905400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr9:17905200-17905400	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr9:17905200-17905400	Enhancers	Right Atrium	heart
24	chr9:17905200-17905600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
25	chr9:17905200-17905600	Bivalent Enhancer	Fetal Stomach	stomach
26	chr9:17905200-17905800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr9:17905200-17905800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:17905200-17905800	Bivalent Enhancer	Brain Hippocampus Middle	brain
29	chr9:17905200-17905800	Enhancers	Gastric	stomach
30	chr9:17905200-17905800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr9:17905200-17905800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
32	chr9:17905200-17906600	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr9:17905200-17906800	Active TSS	Rectal Smooth Muscle	rectum
34	chr9:17905200-17907000	Enhancers	Pancreas	Pancrea
35	chr9:17905200-17907600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
36	chr9:17905200-17907800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr9:17905400-17905600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr9:17905400-17905600	Bivalent Enhancer	Fetal Lung	lung
39	chr9:17905400-17905600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
40	chr9:17905400-17905800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
41	chr9:17905400-17905800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
42	chr9:17905400-17905800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
43	chr9:17905400-17905800	Bivalent Enhancer	Fetal Heart	heart
44	chr9:17905400-17905800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
45	chr9:17905400-17906000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
46	chr9:17905400-17906400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
47	chr9:17905400-17906400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr9:17905400-17906600	Active TSS	Colonic Mucosa	Colon
49	chr9:17905400-17906800	Bivalent Enhancer	Fetal Brain Male	brain
50	chr9:17905400-17907400	Active TSS	Rectal Mucosa Donor 29	rectum

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