Variant report

Variant	esv3320614
Chromosome Location	chr1:113799379-113800727
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576171417	chr1:113799385-113799386	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs542078950	chr1:113799397-113799398	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs76903669	chr1:113799433-113799434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17445086	chr1:113799512-113799513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74111241	chr1:113799524-113799525	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563929749	chr1:113799526-113799527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377384904	chr1:113799570-113799571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79583074	chr1:113799571-113799572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536621049	chr1:113799596-113799597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12046651	chr1:113799598-113799599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554560034	chr1:113799622-113799623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112613371	chr1:113799632-113799633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111600577	chr1:113799706-113799707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549627069	chr1:113799742-113799743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113414690	chr1:113799766-113799767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569767698	chr1:113799778-113799779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528935956	chr1:113799782-113799783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548423476	chr1:113799783-113799784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568308346	chr1:113799786-113799787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534234902	chr1:113799788-113799789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548019518	chr1:113799928-113799929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145102904	chr1:113799929-113799930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570221247	chr1:113799953-113799954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139042147	chr1:113800031-113800032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200259178	chr1:113800090-113800091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572936762	chr1:113800172-113800173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540308509	chr1:113800174-113800175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71590552	chr1:113800175-113800176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573205100	chr1:113800183-113800184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576637744	chr1:113800200-113800201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535949395	chr1:113800256-113800257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192662737	chr1:113800337-113800338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184488220	chr1:113800351-113800352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545243891	chr1:113800352-113800353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188935519	chr1:113800354-113800355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565085350	chr1:113800384-113800385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577015160	chr1:113800698-113800699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564371571	chr1:113800701-113800702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112889742	chr1:113800720-113800721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181364518	chr1:113800726-113800727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113794600-113799600	Enhancers	Fetal Intestine Small	intestine
2	chr1:113796000-113799400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr1:113796000-113799600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:113796200-113799400	Enhancers	Stomach Mucosa	stomach
5	chr1:113796600-113799400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:113796600-113799600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:113797000-113799600	Enhancers	Fetal Lung	lung
8	chr1:113798000-113799400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:113798200-113799600	Enhancers	Placenta	Placenta
10	chr1:113798400-113799400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:113798400-113799400	Enhancers	Fetal Stomach	stomach
12	chr1:113798600-113799400	Enhancers	Primary T cells from cord blood	blood
13	chr1:113798600-113799400	Enhancers	Fetal Kidney	kidney
14	chr1:113798800-113799400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:113798800-113817800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:113799000-113799400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr1:113799000-113799400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr1:113799000-113799400	Bivalent Enhancer	HSMMtube	muscle
19	chr1:113799000-113799600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:113799000-113799600	Enhancers	Fetal Intestine Large	intestine
21	chr1:113799200-113799400	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr1:113799200-113800800	Weak transcription	Pancreas	Pancrea
23	chr1:113799400-113800400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:113799400-113807600	Weak transcription	Stomach Mucosa	stomach
25	chr1:113799400-113824200	Weak transcription	Fetal Kidney	kidney
26	chr1:113799600-113800000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:113799600-113800000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:113799600-113802000	Weak transcription	Fetal Intestine Large	intestine
29	chr1:113800000-113800400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:113800000-113800400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:113800400-113800600	Enhancers	HUES64 Cell Line	embryonic stem cell

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