Variant report

Variant	esv2830193
Chromosome Location	chr9:8337939-8345923
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	chr9:8341198..8343962-chr9:8344780..8346440,2	K562	blood:
2	chr9:8341198..8343962-chr9:8344780..8346440,2	K562	blood:

Extended variants
information (count: 452 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7032880	chr9:8337939-8337940	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148758895	chr9:8337949-8337950	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142477984	chr9:8337974-8337975	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374099433	chr9:8337976-8337977	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562074833	chr9:8338001-8338002	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537555552	chr9:8338040-8338041	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77479108	chr9:8338048-8338049	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541432728	chr9:8338090-8338091	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559822634	chr9:8338100-8338101	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368052421	chr9:8338103-8338104	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370318194	chr9:8338118-8338119	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533659866	chr9:8338123-8338124	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551697172	chr9:8338132-8338133	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13286352	chr9:8338150-8338151	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs191983881	chr9:8338156-8338157	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572105706	chr9:8338166-8338167	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369793947	chr9:8338195-8338196	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548624491	chr9:8338202-8338203	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567010248	chr9:8338228-8338229	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528106150	chr9:8338232-8338233	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574192121	chr9:8338234-8338235	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78156258	chr9:8338261-8338262	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571468671	chr9:8338270-8338271	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538899823	chr9:8338276-8338277	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542897007	chr9:8338302-8338303	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556882082	chr9:8338308-8338309	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569032706	chr9:8338327-8338328	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536441660	chr9:8338359-8338360	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553280719	chr9:8338368-8338369	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555943034	chr9:8338391-8338392	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111706158	chr9:8338418-8338419	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10976971	chr9:8338431-8338432	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553296475	chr9:8338479-8338480	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117140547	chr9:8338483-8338484	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545634533	chr9:8338485-8338486	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563546177	chr9:8338501-8338502	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35583316	chr9:8338502-8338503	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531047578	chr9:8338547-8338548	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542793003	chr9:8338553-8338554	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564905570	chr9:8338559-8338560	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372410469	chr9:8338568-8338569	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76621385	chr9:8338574-8338575	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530478910	chr9:8338575-8338576	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528142397	chr9:8338589-8338590	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546303200	chr9:8338605-8338606	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544103163	chr9:8338681-8338682	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs3780336	chr9:8338690-8338691	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs532316580	chr9:8338731-8338732	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550893181	chr9:8338741-8338742	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569170798	chr9:8338745-8338746	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	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
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8312200-8338200	Weak transcription	Brain Angular Gyrus	brain
2	chr9:8323400-8341600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:8323800-8341600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:8324000-8345000	Weak transcription	Fetal Brain Male	brain
5	chr9:8327200-8338000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr9:8328000-8338000	Weak transcription	Dnd41	blood
7	chr9:8328200-8338600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:8328800-8338200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr9:8329800-8339800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:8330000-8338000	Weak transcription	Liver	Liver
11	chr9:8330000-8338600	Weak transcription	Brain Substantia Nigra	brain
12	chr9:8330000-8348600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr9:8330200-8338600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr9:8330200-8339800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr9:8330200-8339800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr9:8330200-8340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:8330200-8340400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr9:8330200-8340800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:8330200-8342200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr9:8330200-8364200	Weak transcription	Brain Anterior Caudate	brain
21	chr9:8330400-8338200	Weak transcription	Brain Hippocampus Middle	brain
22	chr9:8330400-8338200	Weak transcription	Fetal Stomach	stomach
23	chr9:8330400-8340000	Weak transcription	Placenta	Placenta
24	chr9:8331400-8342000	Weak transcription	Fetal Kidney	kidney
25	chr9:8336600-8338200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr9:8336800-8341800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr9:8337200-8340400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:8337400-8339000	Enhancers	Fetal Intestine Large	intestine
29	chr9:8337400-8339000	Enhancers	Fetal Intestine Small	intestine
30	chr9:8337400-8339000	Enhancers	Pancreas	Pancrea
31	chr9:8337400-8339600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:8337400-8339600	Strong transcription	Brain Germinal Matrix	brain
33	chr9:8337400-8340200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:8337400-8340200	Strong transcription	Brain Cingulate Gyrus	brain
35	chr9:8337400-8340600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:8337400-8340800	Strong transcription	Fetal Brain Female	brain
37	chr9:8337400-8341800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:8337600-8338400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr9:8337600-8338800	Enhancers	Fetal Lung	lung
40	chr9:8337600-8340000	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr9:8337600-8340400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr9:8337800-8338200	Strong transcription	Fetal Muscle Leg	muscle
43	chr9:8337800-8339000	Enhancers	Adipose Nuclei	Adipose
44	chr9:8337800-8339000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr9:8337800-8339400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:8337800-8339600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr9:8337800-8339600	Enhancers	Ovary	ovary
48	chr9:8338000-8338600	Strong transcription	Dnd41	blood
49	chr9:8338000-8339000	Enhancers	Aorta	Aorta
50	chr9:8338000-8339200	Enhancers	Liver	Liver

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