Variant report

Variant	esv2422124
Chromosome Location	chr9:15157746-15159421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2096366	chr9:15157746-15157747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117031276	chr9:15157769-15157770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564064849	chr9:15157783-15157784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528183455	chr9:15157833-15157834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150317616	chr9:15157838-15157839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138986028	chr9:15157843-15157844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560809409	chr9:15157864-15157865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112025496	chr9:15157865-15157866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535767514	chr9:15157895-15157896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187963869	chr9:15157909-15157910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569280309	chr9:15157916-15157917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539804589	chr9:15157926-15157927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113873513	chr9:15157935-15157936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182420841	chr9:15157972-15157973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1780159	chr9:15157977-15157978	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
16	rs534279089	chr9:15157979-15157980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78216806	chr9:15158025-15158026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187373966	chr9:15158028-15158029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544506289	chr9:15158029-15158030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562800384	chr9:15158030-15158031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79655791	chr9:15158051-15158052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9792685	chr9:15158063-15158064	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs564085763	chr9:15158075-15158076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192270457	chr9:15158078-15158079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540291555	chr9:15158104-15158105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575623591	chr9:15158168-15158169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373171701	chr9:15158174-15158175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183539416	chr9:15158186-15158187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35697804	chr9:15158195-15158196	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs200252730	chr9:15158196-15158197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74537422	chr9:15158224-15158225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74501212	chr9:15158227-15158228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142132273	chr9:15158256-15158257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186040983	chr9:15158277-15158278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190313364	chr9:15158333-15158334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73646006	chr9:15158351-15158352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574756387	chr9:15158371-15158372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78401406	chr9:15158396-15158397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182584298	chr9:15158403-15158404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139744857	chr9:15158410-15158411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567527008	chr9:15158420-15158421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76778867	chr9:15158434-15158435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149567117	chr9:15158532-15158533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577943653	chr9:15158547-15158548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560434076	chr9:15158583-15158584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530046716	chr9:15158600-15158601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10738388	chr9:15158602-15158603	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2761139	chr9:15158609-15158610	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs572772130	chr9:15158667-15158668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374612733	chr9:15158698-15158699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	19835627	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15146800-15160400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:15154800-15159200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:15155400-15159200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:15155400-15159200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr9:15155400-15161400	Enhancers	Osteobl	bone
6	chr9:15155600-15181400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr9:15155800-15157800	Enhancers	Adipose Nuclei	Adipose
8	chr9:15155800-15158200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr9:15155800-15159000	Enhancers	Hela-S3	cervix
10	chr9:15156000-15158400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:15156200-15185400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr9:15156400-15171200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:15156600-15157800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:15156600-15157800	Enhancers	Left Ventricle	heart
15	chr9:15156600-15157800	Enhancers	Right Atrium	heart
16	chr9:15156600-15157800	Enhancers	Right Ventricle	heart
17	chr9:15156600-15158000	Enhancers	Brain Germinal Matrix	brain
18	chr9:15156600-15158200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:15156600-15194200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr9:15156800-15157800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr9:15156800-15158800	Weak transcription	NH-A	brain
22	chr9:15156800-15162200	Weak transcription	Fetal Brain Female	brain
23	chr9:15156800-15169000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:15156800-15170200	Weak transcription	Esophagus	oesophagus
25	chr9:15156800-15170800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr9:15156800-15173800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr9:15156800-15175600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:15156800-15181600	Weak transcription	Fetal Muscle Leg	muscle
29	chr9:15156800-15190400	Weak transcription	Brain Anterior Caudate	brain
30	chr9:15156800-15211800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr9:15157000-15158200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:15157000-15158400	Weak transcription	HUVEC	blood vessel
33	chr9:15157200-15158000	Enhancers	Aorta	Aorta
34	chr9:15157400-15158600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:15157400-15158600	Enhancers	Liver	Liver
36	chr9:15157400-15159000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:15157400-15159000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:15157600-15157800	Enhancers	Brain Cingulate Gyrus	brain
39	chr9:15157600-15157800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:15157600-15158000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr9:15157600-15158000	Enhancers	Ovary	ovary
42	chr9:15157600-15158000	Enhancers	NHEK	skin
43	chr9:15157600-15159000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:15157600-15162600	Weak transcription	Fetal Brain Male	brain
45	chr9:15157800-15158000	Enhancers	Fetal Stomach	stomach
46	chr9:15157800-15158800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr9:15157800-15159000	Enhancers	HMEC	breast
48	chr9:15158000-15158600	Weak transcription	Aorta	Aorta
49	chr9:15158000-15159000	Weak transcription	NHEK	skin
50	chr9:15158000-15160800	Weak transcription	Ovary	ovary

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