Variant report

Variant	esv2550823
Chromosome Location	chr1:10351979-10353263
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559079651	chr1:10351984-10351985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577380459	chr1:10352073-10352074	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375149695	chr1:10352087-10352088	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200986903	chr1:10352114-10352115	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146364486	chr1:10352147-10352148	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141675590	chr1:10352151-10352152	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34768638	chr1:10352175-10352176	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199827172	chr1:10352201-10352202	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541459285	chr1:10352219-10352220	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76694630	chr1:10352228-10352229	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368984965	chr1:10352229-10352230	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9662704	chr1:10352328-10352329	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368423186	chr1:10352340-10352341	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530434116	chr1:10352380-10352381	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9662711	chr1:10352395-10352396	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75907853	chr1:10352429-10352430	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs563952868	chr1:10352430-10352431	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs530989599	chr1:10352486-10352487	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs372770800	chr1:10352491-10352492	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs570227078	chr1:10352492-10352493	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs142088935	chr1:10352504-10352505	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs546188891	chr1:10352516-10352517	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs149317289	chr1:10352599-10352600	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs188595349	chr1:10352643-10352644	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs77234721	chr1:10352758-10352759	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs150750773	chr1:10352769-10352770	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs539275933	chr1:10352770-10352771	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs12127604	chr1:10352800-10352801	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs577419324	chr1:10352831-10352832	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs541497754	chr1:10352870-10352871	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs138997716	chr1:10352891-10352892	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs34968739	chr1:10352899-10352900	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs574738688	chr1:10352921-10352922	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs542537252	chr1:10352929-10352930	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs563812098	chr1:10352952-10352953	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs181088336	chr1:10352961-10352962	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs529869222	chr1:10353009-10353010	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1211791	chr1:10353038-10353039	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183893784	chr1:10353042-10353043	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548518423	chr1:10353046-10353047	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28627377	chr1:10353073-10353074	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528179719	chr1:10353076-10353077	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373905836	chr1:10353089-10353090	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143979337	chr1:10353107-10353108	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10492972	chr1:10353112-10353113	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
46	rs33954582	chr1:10353144-10353145	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs397740214	chr1:10353158-10353159	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200693931	chr1:10353159-10353160	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76177552	chr1:10353191-10353192	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78179366	chr1:10353194-10353195	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	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
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	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
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10314200-10356400	Weak transcription	Small Intestine	intestine
3	chr1:10314200-10363400	Weak transcription	Fetal Brain Male	brain
4	chr1:10315000-10355600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:10315400-10373400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:10316800-10380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:10317400-10355200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:10317400-10356400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:10317600-10355600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:10318400-10367600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:10320600-10363000	Weak transcription	Gastric	stomach
12	chr1:10321400-10359000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:10321800-10353200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:10322400-10356400	Weak transcription	Esophagus	oesophagus
15	chr1:10322800-10363200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:10324200-10356200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:10324400-10356400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:10326000-10352000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:10327200-10352400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:10331600-10368000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:10331800-10356400	Weak transcription	Fetal Thymus	thymus
22	chr1:10332200-10363800	Weak transcription	Thymus	Thymus
23	chr1:10333200-10359200	Weak transcription	Stomach Mucosa	stomach
24	chr1:10334400-10360000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:10335000-10360000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:10335200-10352000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:10335600-10359000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr1:10335800-10359000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:10339400-10352400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:10339400-10355600	Weak transcription	Primary B cells from cord blood	blood
31	chr1:10340000-10354600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:10340000-10356600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:10342400-10352200	Strong transcription	Fetal Stomach	stomach
34	chr1:10342800-10356200	Weak transcription	Dnd41	blood
35	chr1:10343800-10355000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:10343800-10355600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:10343800-10356400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:10343800-10358800	Strong transcription	NHDF-Ad	bronchial
39	chr1:10344000-10352000	Weak transcription	A549	lung
40	chr1:10344000-10352400	Weak transcription	Fetal Kidney	kidney
41	chr1:10344000-10355600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:10344000-10359200	Weak transcription	GM12878-XiMat	blood
43	chr1:10344000-10363400	Weak transcription	K562	blood
44	chr1:10344200-10353600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:10344200-10355800	Weak transcription	Hela-S3	cervix
46	chr1:10344400-10356600	Weak transcription	Colonic Mucosa	Colon
47	chr1:10344800-10352000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:10345200-10359400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:10345600-10361800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr1:10346000-10358400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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