Variant report

Variant	esv2755419
Chromosome Location	chr9:26539976-26576337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 682 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:682 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56856928	chr9:26543275-26543276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141361813	chr9:26543368-26543369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145325158	chr9:26543371-26543372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182674139	chr9:26543375-26543376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529706521	chr9:26543378-26543379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72716300	chr9:26543384-26543385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs146464957	chr9:26543392-26543393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538039338	chr9:26543428-26543429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556246624	chr9:26543447-26543448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552045669	chr9:26543471-26543472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570361516	chr9:26543472-26543473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112028282	chr9:26543482-26543483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34695239	chr9:26543563-26543564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75005018	chr9:26543577-26543578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374937073	chr9:26543579-26543580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536810159	chr9:26543580-26543581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34347810	chr9:26543591-26543592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186738440	chr9:26543598-26543599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556654076	chr9:26543605-26543606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568428580	chr9:26543668-26543669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191984407	chr9:26543705-26543706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554168488	chr9:26543736-26543737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571176242	chr9:26543740-26543741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572461842	chr9:26543748-26543749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62544421	chr9:26543752-26543753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs558465879	chr9:26543755-26543756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576609548	chr9:26543760-26543761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183800557	chr9:26543773-26543774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149031210	chr9:26543821-26543822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529705738	chr9:26543837-26543838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541822712	chr9:26543854-26543855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559759982	chr9:26543856-26543857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527290479	chr9:26543880-26543881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552083678	chr9:26543930-26543931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570398296	chr9:26543933-26543934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115266217	chr9:26543964-26543965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560252911	chr9:26543980-26543981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549682155	chr9:26544014-26544015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375032921	chr9:26544043-26544044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143053233	chr9:26544052-26544053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535615343	chr9:26544084-26544085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10125924	chr9:26544100-26544101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs566105793	chr9:26544112-26544113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539826258	chr9:26544128-26544129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370324172	chr9:26544175-26544176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554239717	chr9:26544189-26544190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148195157	chr9:26544204-26544205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114848496	chr9:26544310-26544311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202152716	chr9:26544322-26544323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141308977	chr9:26544367-26544368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Medulloblastoma	21979893	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
Oral squamous cell carcinoma	17134496	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
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Hodgkin''s lymphoma	18179710	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Pancreatic cancer	21811587	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26543200-26546800	Weak transcription	Fetal Brain Male	brain
2	chr9:26546000-26546400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:26546400-26548000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:26548000-26549000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr9:26548000-26550000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:26548000-26550200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:26548200-26548600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr9:26548200-26548600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:26548200-26550000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:26548400-26549000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr9:26548600-26552400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:26548800-26549000	Enhancers	Aorta	Aorta
13	chr9:26548800-26549400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr9:26549000-26550600	Weak transcription	Aorta	Aorta
15	chr9:26550600-26553000	Enhancers	Aorta	Aorta
16	chr9:26551800-26552600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:26552200-26553000	Enhancers	Stomach Smooth Muscle	stomach
18	chr9:26552400-26552600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:26554600-26554800	Enhancers	Aorta	Aorta
20	chr9:26561200-26564000	Enhancers	Hela-S3	cervix
21	chr9:26561600-26562800	Enhancers	Fetal Lung	lung
22	chr9:26562000-26562400	Enhancers	HepG2	liver
23	chr9:26564000-26564400	Weak transcription	Hela-S3	cervix
24	chr9:26564400-26564800	Enhancers	Hela-S3	cervix
25	chr9:26565000-26565400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr9:26565600-26566000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:26566200-26566600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr9:26566200-26566600	Enhancers	Fetal Muscle Leg	muscle
29	chr9:26566200-26566600	Enhancers	Psoas Muscle	Psoas
30	chr9:26567600-26568000	Enhancers	Skeletal Muscle Female	skeletal muscle

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