Variant report

Variant	esv3483894
Chromosome Location	chr9:136547627-136548116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136547609..136549609-chr9:136554134..136556211,2	MCF-7	breast:
2	chr9:136514960..136517246-chr9:136545398..136548011,2	K562	blood:
3	chr9:136546579..136549426-chr9:136551457..136554920,3	K562	blood:
4	chr9:136547327..136548989-chr9:136894094..136896056,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235106	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146274167	chr9:136547656-136547657	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs3025449	chr9:136547697-136547698	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542847180	chr9:136547699-136547700	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561472430	chr9:136547701-136547702	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs191772241	chr9:136547734-136547735	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546999551	chr9:136547742-136547743	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571278254	chr9:136547768-136547769	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183611392	chr9:136547770-136547771	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551221721	chr9:136547771-136547772	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs3024257	chr9:136547780-136547781	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs129954	chr9:136547790-136547791	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537299570	chr9:136547798-136547799	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs530086707	chr9:136547799-136547800	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs188900693	chr9:136547829-136547830	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2797828	chr9:136547832-136547833	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534401294	chr9:136547834-136547835	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553028332	chr9:136547835-136547836	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs539381251	chr9:136547854-136547855	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11507041	chr9:136547862-136547863	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs539340597	chr9:136547907-136547908	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113023823	chr9:136547948-136547949	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs192189487	chr9:136547957-136547958	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs4273911	chr9:136547960-136547961	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557732196	chr9:136547961-136547962	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs575836655	chr9:136547973-136547974	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112248351	chr9:136547982-136547983	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs561301564	chr9:136547991-136547992	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs2502734	chr9:136548024-136548025	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs540335285	chr9:136548025-136548026	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs564946716	chr9:136548026-136548027	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs569469586	chr9:136548027-136548028	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs129955	chr9:136548036-136548037	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs538070890	chr9:136548037-136548038	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs183288401	chr9:136548045-136548046	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370722523	chr9:136548062-136548063	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550559068	chr9:136548075-136548076	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186861123	chr9:136548105-136548106	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs200567947	chr9:136548107-136548108	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Hepatocellular carcinoma	22174799	CNVD
Bladder cancer	21909424	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136524800-136555600	Weak transcription	HSMM	muscle
2	chr9:136525000-136556800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr9:136530800-136561000	Weak transcription	Gastric	stomach
4	chr9:136538400-136548200	Weak transcription	Pancreas	Pancrea
5	chr9:136538600-136549000	Weak transcription	Fetal Brain Female	brain
6	chr9:136540000-136548400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr9:136540200-136549200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr9:136541600-136551000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr9:136542000-136548200	Strong transcription	Liver	Liver
10	chr9:136542800-136548200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:136543200-136548200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr9:136543200-136548200	Weak transcription	Right Atrium	heart
13	chr9:136544200-136548600	Weak transcription	Thymus	Thymus
14	chr9:136544200-136549400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:136544400-136548200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr9:136544600-136548200	Weak transcription	Left Ventricle	heart
17	chr9:136544600-136548400	Weak transcription	Fetal Intestine Large	intestine
18	chr9:136545000-136548200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr9:136545000-136548400	Weak transcription	Brain Hippocampus Middle	brain
20	chr9:136545000-136548400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr9:136545200-136548200	Weak transcription	Brain Germinal Matrix	brain
22	chr9:136545200-136548800	Weak transcription	Brain Anterior Caudate	brain
23	chr9:136545400-136548400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr9:136545400-136559600	Weak transcription	Fetal Heart	heart
25	chr9:136545600-136548200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr9:136545600-136548200	Weak transcription	Fetal Lung	lung
27	chr9:136545600-136548200	Weak transcription	Right Ventricle	heart
28	chr9:136545600-136557800	Weak transcription	Ovary	ovary
29	chr9:136545600-136567600	Weak transcription	Colon Smooth Muscle	Colon
30	chr9:136545800-136548400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr9:136545800-136548400	Weak transcription	Fetal Brain Male	brain
32	chr9:136546000-136548200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr9:136546200-136550600	Enhancers	Fetal Muscle Leg	muscle
34	chr9:136546400-136548200	Weak transcription	Lung	lung
35	chr9:136546400-136548400	Enhancers	Primary T cells from cord blood	blood
36	chr9:136546400-136548400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr9:136546400-136549400	Enhancers	Fetal Thymus	thymus
38	chr9:136546600-136548400	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr9:136546600-136549200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr9:136546600-136551400	Strong transcription	HepG2	liver
41	chr9:136546800-136548400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr9:136547000-136548200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr9:136547000-136548400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr9:136547200-136548200	Weak transcription	Spleen	Spleen
45	chr9:136547200-136549000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr9:136547400-136548200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr9:136547400-136548200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr9:136547400-136548200	Enhancers	Fetal Stomach	stomach
49	chr9:136547400-136548600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr9:136547400-136548800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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