Variant report

Variant	esv1829221
Chromosome Location	chr9:17904496-17911627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 178 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16936077	chr9:17904496-17904497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533280202	chr9:17904543-17904544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10756920	chr9:17904548-17904549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534832839	chr9:17904577-17904578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546330182	chr9:17904581-17904582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144076890	chr9:17904631-17904632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187725208	chr9:17904634-17904635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536034022	chr9:17904656-17904657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111426791	chr9:17904665-17904666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546699928	chr9:17904696-17904697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557241376	chr9:17904698-17904699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192636335	chr9:17904736-17904737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184783221	chr9:17904738-17904739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386733248	chr9:17904750-17904751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115946888	chr9:17904751-17904752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115418985	chr9:17904752-17904753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572864717	chr9:17904806-17904807	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs201144287	chr9:17904884-17904885	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs530018812	chr9:17904925-17904926	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs59958631	chr9:17904928-17904929	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs540375715	chr9:17904931-17904932	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs568167778	chr9:17905005-17905006	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs189038446	chr9:17905068-17905069	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs192735688	chr9:17905073-17905074	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs139928801	chr9:17905078-17905079	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs532380130	chr9:17905097-17905098	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs376398953	chr9:17905098-17905099	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs568185542	chr9:17905128-17905129	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs562498305	chr9:17905188-17905189	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs143240252	chr9:17905190-17905191	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs12379587	chr9:17905195-17905196	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs184560801	chr9:17905197-17905198	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs568790380	chr9:17905206-17905207	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs534677876	chr9:17905215-17905216	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs376323368	chr9:17905272-17905273	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs537117136	chr9:17905316-17905317	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs73414820	chr9:17905350-17905351	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs557532033	chr9:17905365-17905366	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs575706862	chr9:17905371-17905372	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs540174462	chr9:17905377-17905378	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs376721872	chr9:17905379-17905380	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs375443391	chr9:17905399-17905400	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs558486063	chr9:17905429-17905430	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572903346	chr9:17905439-17905440	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146696230	chr9:17905441-17905442	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190043423	chr9:17905453-17905454	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535179594	chr9:17905456-17905457	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573684238	chr9:17905467-17905468	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371306313	chr9:17905539-17905540	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373900741	chr9:17905540-17905541	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17904200-17905200	Weak transcription	Aorta	Aorta
2	chr9:17904800-17905200	Bivalent Enhancer	Fetal Brain Male	brain
3	chr9:17905000-17905600	Bivalent Enhancer	Brain Germinal Matrix	brain
4	chr9:17905200-17905400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
5	chr9:17905200-17905400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr9:17905200-17905400	Enhancers	Aorta	Aorta
7	chr9:17905200-17905400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
8	chr9:17905200-17905400	Bivalent Enhancer	Fetal Brain Female	brain
9	chr9:17905200-17905400	Flanking Bivalent TSS/Enh	Fetal Heart	heart
10	chr9:17905200-17905400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
11	chr9:17905200-17905400	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr9:17905200-17905400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr9:17905200-17905400	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr9:17905200-17905400	Enhancers	Right Atrium	heart
15	chr9:17905200-17905600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr9:17905200-17905600	Bivalent Enhancer	Fetal Stomach	stomach
17	chr9:17905200-17905800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr9:17905200-17905800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:17905200-17905800	Bivalent Enhancer	Brain Hippocampus Middle	brain
20	chr9:17905200-17905800	Enhancers	Gastric	stomach
21	chr9:17905200-17905800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr9:17905200-17905800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
23	chr9:17905200-17906600	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr9:17905200-17906800	Active TSS	Rectal Smooth Muscle	rectum
25	chr9:17905200-17907000	Enhancers	Pancreas	Pancrea
26	chr9:17905200-17907600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
27	chr9:17905200-17907800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr9:17905400-17905600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
29	chr9:17905400-17905600	Bivalent Enhancer	Fetal Lung	lung
30	chr9:17905400-17905600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
31	chr9:17905400-17905800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
32	chr9:17905400-17905800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
33	chr9:17905400-17905800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
34	chr9:17905400-17905800	Bivalent Enhancer	Fetal Heart	heart
35	chr9:17905400-17905800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
36	chr9:17905400-17906000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
37	chr9:17905400-17906400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
38	chr9:17905400-17906400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr9:17905400-17906600	Active TSS	Colonic Mucosa	Colon
40	chr9:17905400-17906800	Bivalent Enhancer	Fetal Brain Male	brain
41	chr9:17905400-17907400	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr9:17905400-17908200	Active TSS	Aorta	Aorta
43	chr9:17905400-17908400	Active TSS	Colon Smooth Muscle	Colon
44	chr9:17905600-17905800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr9:17905600-17905800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
46	chr9:17905600-17905800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
47	chr9:17905600-17905800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr9:17905600-17905800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
49	chr9:17905600-17905800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
50	chr9:17905600-17906000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum

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