Variant report

Variant	esv3373914
Chromosome Location	chr9:3465977-3468525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:3465058..3467363-chr9:3472646..3474184,2	K562	blood:
2	chr9:3462529..3469298-chr9:3525044..3529022,8	MCF-7	breast:
3	chr9:3466442..3469407-chr9:3524530..3526691,2	K562	blood:
4	chr9:3467888..3469865-chr9:4296792..4299430,2	MCF-7	breast:
5	chr9:3467327..3468207-chr9:3521230..3521983,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228322	chromatin interactions
ENSG00000107249	chromatin interactions
ENSG00000080298	chromatin interactions
ENSG00000232104	chromatin interactions

Extended variants
information (count: 157 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:157 , 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	rs568816991	chr9:3465998-3465999	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs12237358	chr9:3466016-3466017	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557948793	chr9:3466020-3466021	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs147788557	chr9:3466022-3466023	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs540401261	chr9:3466063-3466064	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs553238299	chr9:3466066-3466067	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs76559992	chr9:3466082-3466083	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs377311128	chr9:3466141-3466142	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs562033518	chr9:3466153-3466154	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs531245892	chr9:3466155-3466156	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs544611082	chr9:3466159-3466160	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs554400841	chr9:3466177-3466178	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs141250772	chr9:3466206-3466207	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs547160228	chr9:3466241-3466242	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs566241167	chr9:3466303-3466304	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs77246006	chr9:3466409-3466410	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs548592229	chr9:3466415-3466416	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs568480482	chr9:3466427-3466428	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs150291008	chr9:3466440-3466441	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs557797179	chr9:3466444-3466445	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs571515197	chr9:3466445-3466446	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs34086781	chr9:3466460-3466461	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553884674	chr9:3466468-3466469	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs116049556	chr9:3466484-3466485	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs377299152	chr9:3466494-3466495	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs188423666	chr9:3466498-3466499	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs566076894	chr9:3466511-3466512	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs370118205	chr9:3466516-3466517	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs192656517	chr9:3466528-3466529	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs544095977	chr9:3466571-3466572	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs533638586	chr9:3466614-3466615	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs540476154	chr9:3466621-3466622	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs184636120	chr9:3466639-3466640	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs528972477	chr9:3466649-3466650	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs137942090	chr9:3466662-3466663	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs57004251	chr9:3466714-3466715	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs149217753	chr9:3466728-3466729	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs551348116	chr9:3466737-3466738	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs576856193	chr9:3466766-3466767	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs549786396	chr9:3466789-3466790	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs377568833	chr9:3466795-3466796	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs535149883	chr9:3466820-3466821	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs547626576	chr9:3466827-3466828	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs367946148	chr9:3466859-3466860	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs188956729	chr9:3466881-3466882	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs72699086	chr9:3466884-3466885	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs555942735	chr9:3466893-3466894	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs12554323	chr9:3466904-3466905	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531985320	chr9:3466936-3466937	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs16924266	chr9:3466937-3466938	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	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
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3432400-3467800	Weak transcription	GM12878-XiMat	blood
2	chr9:3435000-3473200	Weak transcription	Primary T cells from cord blood	blood
3	chr9:3438400-3472800	Weak transcription	Primary B cells from cord blood	blood
4	chr9:3447400-3478800	Weak transcription	Aorta	Aorta
5	chr9:3448000-3475800	Weak transcription	Fetal Intestine Small	intestine
6	chr9:3455000-3483000	Weak transcription	Fetal Thymus	thymus
7	chr9:3456200-3467600	Weak transcription	Ovary	ovary
8	chr9:3456200-3473200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr9:3458000-3467800	Weak transcription	A549	lung
10	chr9:3459400-3467600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr9:3459400-3467600	Weak transcription	Brain Anterior Caudate	brain
12	chr9:3459400-3467800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr9:3459600-3472800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:3459800-3467400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr9:3459800-3467800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:3461000-3467600	Weak transcription	Fetal Brain Male	brain
17	chr9:3461800-3471000	Weak transcription	HUVEC	blood vessel
18	chr9:3462000-3467800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr9:3463400-3467800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr9:3463600-3467600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr9:3464000-3467800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr9:3464400-3467200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:3464600-3467800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:3464600-3467800	Weak transcription	NHDF-Ad	bronchial
25	chr9:3464800-3467600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:3464800-3467800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:3467200-3470200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:3467400-3469000	Enhancers	Brain Germinal Matrix	brain
29	chr9:3467400-3469200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:3467400-3469600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr9:3467400-3470200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:3467600-3467800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr9:3467600-3468000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr9:3467600-3468000	Enhancers	Adipose Nuclei	Adipose
35	chr9:3467600-3468000	Enhancers	NHLF	lung
36	chr9:3467600-3468200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr9:3467600-3468200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr9:3467600-3468200	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr9:3467600-3468200	Enhancers	Liver	Liver
40	chr9:3467600-3468200	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr9:3467600-3468400	Enhancers	Brain Anterior Caudate	brain
42	chr9:3467600-3468400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr9:3467600-3468600	Enhancers	Brain Angular Gyrus	brain
44	chr9:3467600-3468600	Enhancers	Brain Hippocampus Middle	brain
45	chr9:3467600-3468600	Enhancers	Brain Substantia Nigra	brain
46	chr9:3467600-3468600	Enhancers	Ovary	ovary
47	chr9:3467600-3468800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr9:3467600-3469200	Enhancers	Fetal Brain Male	brain
49	chr9:3467600-3469400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:3467600-3478600	Weak transcription	Left Ventricle	heart

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