Variant report

Variant	esv3409917
Chromosome Location	chr1:91801864-91806862
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 174 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:174 , 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	rs538066695	chr1:91801952-91801953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs281954	chr1:91801997-91801998	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577662938	chr1:91802124-91802125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28395174	chr1:91802147-91802148	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138224978	chr1:91802194-91802195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149599411	chr1:91802210-91802211	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542914720	chr1:91802215-91802216	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542844165	chr1:91802217-91802218	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561181309	chr1:91802238-91802239	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556350839	chr1:91802259-91802260	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34809593	chr1:91802266-91802267	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs281953	chr1:91802296-91802297	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs116222902	chr1:91802311-91802312	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189827919	chr1:91802321-91802322	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551881560	chr1:91802339-91802340	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566503783	chr1:91802358-91802359	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527697254	chr1:91802373-91802374	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113550410	chr1:91802393-91802394	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570649851	chr1:91802451-91802452	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564890796	chr1:91802454-91802455	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114357614	chr1:91802502-91802503	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538578510	chr1:91802505-91802506	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556471750	chr1:91802510-91802511	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571845719	chr1:91802511-91802512	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370606535	chr1:91802527-91802528	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538333258	chr1:91802538-91802539	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553926207	chr1:91802553-91802554	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79091521	chr1:91802557-91802558	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs281952	chr1:91802565-91802566	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542653231	chr1:91802587-91802588	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554855797	chr1:91802594-91802595	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527345579	chr1:91802602-91802603	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs281951	chr1:91802604-91802605	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs532400226	chr1:91802615-91802616	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs543737750	chr1:91802627-91802628	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs539396493	chr1:91802652-91802653	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs564914292	chr1:91802770-91802771	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs371471707	chr1:91802772-91802773	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs576992202	chr1:91802779-91802780	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs12060327	chr1:91802783-91802784	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs560224880	chr1:91802785-91802786	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs527634653	chr1:91802801-91802802	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561064430	chr1:91802804-91802805	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368540184	chr1:91802832-91802833	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571592443	chr1:91802848-91802849	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180785988	chr1:91802946-91802947	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560989095	chr1:91802966-91802967	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114498432	chr1:91802969-91802970	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550478827	chr1:91803031-91803032	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56738625	chr1:91803041-91803042	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91782600-91804800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:91788400-91810800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:91791200-91803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:91791400-91805400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:91793200-91819400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:91793400-91805600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:91794000-91826600	Weak transcription	Fetal Heart	heart
8	chr1:91794400-91802400	Weak transcription	Right Ventricle	heart
9	chr1:91794600-91802400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:91794800-91804600	Weak transcription	Fetal Intestine Small	intestine
11	chr1:91795000-91803800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:91795200-91802400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:91795400-91803200	Weak transcription	Brain Germinal Matrix	brain
14	chr1:91795600-91802400	Weak transcription	Fetal Lung	lung
15	chr1:91795600-91802400	Weak transcription	Ovary	ovary
16	chr1:91795600-91802400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:91795600-91802400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:91795600-91804200	Weak transcription	Pancreas	Pancrea
19	chr1:91795600-91804400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:91795600-91808000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:91795600-91824200	Weak transcription	Left Ventricle	heart
22	chr1:91795800-91802400	Weak transcription	Fetal Stomach	stomach
23	chr1:91796400-91803600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:91796600-91802400	Weak transcription	Fetal Kidney	kidney
25	chr1:91796800-91807800	Weak transcription	Fetal Brain Male	brain
26	chr1:91797800-91803400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:91798000-91802200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:91798800-91805800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:91799200-91804600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:91800400-91810800	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:91801400-91802400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:91801800-91804600	Strong transcription	Fetal Brain Female	brain
33	chr1:91802000-91802400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:91802200-91802600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:91802400-91802600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:91802400-91802800	ZNF genes & repeats	Fetal Kidney	kidney
37	chr1:91802400-91802800	ZNF genes & repeats	Fetal Lung	lung
38	chr1:91802400-91803200	Strong transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:91802400-91804400	Strong transcription	Ovary	ovary
40	chr1:91802400-91804400	Strong transcription	Right Ventricle	heart
41	chr1:91802400-91804600	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:91802400-91804800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:91802400-91804800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:91802400-91804800	Strong transcription	Fetal Stomach	stomach
45	chr1:91802400-91804800	Strong transcription	Stomach Smooth Muscle	stomach
46	chr1:91802600-91802800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:91802600-91804000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:91802800-91803200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:91802800-91803200	Weak transcription	Fetal Lung	lung
50	chr1:91802800-91805200	Weak transcription	Right Atrium	heart

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