Variant report

Variant	esv3403184
Chromosome Location	chr1:103238964-103241087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547142972	chr1:103238993-103238994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559131836	chr1:103239000-103239001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112576661	chr1:103239011-103239012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533218404	chr1:103239033-103239034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550018812	chr1:103239041-103239042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551406807	chr1:103239061-103239062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12097587	chr1:103239083-103239084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568514738	chr1:103239106-103239107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535844678	chr1:103239139-103239140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370579884	chr1:103239143-103239144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs620658	chr1:103239164-103239165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs567363253	chr1:103239171-103239172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534713166	chr1:103239174-103239175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138709416	chr1:103239229-103239230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553567045	chr1:103239233-103239234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11276256	chr1:103239242-103239243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs66494228	chr1:103239243-103239244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386634033	chr1:103239244-103239245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1312593	chr1:103239255-103239256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57571735	chr1:103239284-103239285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs146158180	chr1:103239351-103239352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191361739	chr1:103239380-103239381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370289594	chr1:103239393-103239394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542602839	chr1:103239401-103239402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183499299	chr1:103239456-103239457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376124074	chr1:103239523-103239524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572961101	chr1:103239542-103239543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139035168	chr1:103239600-103239601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536055881	chr1:103239645-103239646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559469471	chr1:103239663-103239664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375495809	chr1:103239719-103239720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71094575	chr1:103239736-103239737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56137409	chr1:103239743-103239744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56048350	chr1:103239745-103239746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368630536	chr1:103239749-103239750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372727441	chr1:103239751-103239752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61140583	chr1:103239753-103239754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375044530	chr1:103239755-103239756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55920532	chr1:103239759-103239760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55947545	chr1:103239761-103239762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71094576	chr1:103239762-103239763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200420432	chr1:103239765-103239766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55945815	chr1:103239771-103239772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7513456	chr1:103239773-103239774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs67796461	chr1:103239776-103239777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7527485	chr1:103239777-103239778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10628203	chr1:103239786-103239787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188677626	chr1:103239791-103239792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551584262	chr1:103239794-103239795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60814941	chr1:103239798-103239799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103233200-103243200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:103238600-103241600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:103240000-103240800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:103240000-103240800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:103240000-103241000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:103240200-103240400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:103240200-103240600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:103240200-103240600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:103240200-103240600	Active TSS	Brain Hippocampus Middle	brain
10	chr1:103240200-103240600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr1:103240200-103240600	Active TSS	Brain Substantia Nigra	brain
12	chr1:103240200-103240600	Active TSS	Psoas Muscle	Psoas
13	chr1:103240200-103240600	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr1:103240200-103240600	Active TSS	Hela-S3	cervix
15	chr1:103240200-103240600	Active TSS	HMEC	breast
16	chr1:103240200-103240600	Active TSS	HSMMtube	muscle
17	chr1:103240200-103240600	Active TSS	HUVEC	blood vessel
18	chr1:103240200-103240800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:103240200-103240800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:103240200-103240800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:103240200-103240800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:103240200-103240800	Active TSS	Muscle Satellite Cultured Cells	--
23	chr1:103240200-103240800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:103240200-103240800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:103240200-103240800	Active TSS	Brain Angular Gyrus	brain
26	chr1:103240200-103240800	Active TSS	Fetal Muscle Leg	muscle
27	chr1:103240200-103240800	Active TSS	Ovary	ovary
28	chr1:103240200-103240800	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr1:103240200-103240800	Active TSS	Rectal Smooth Muscle	rectum
30	chr1:103240200-103240800	Active TSS	Stomach Smooth Muscle	stomach
31	chr1:103240200-103240800	Active TSS	A549	lung
32	chr1:103240200-103240800	Active TSS	HSMM	muscle
33	chr1:103240200-103240800	Active TSS	Osteobl	bone
34	chr1:103240200-103241000	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr1:103240400-103240600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:103240400-103240600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr1:103240400-103240600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr1:103240400-103240600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:103240400-103240600	Enhancers	Brain Cingulate Gyrus	brain
40	chr1:103240400-103240800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:103240400-103240800	Active TSS	Adipose Nuclei	Adipose
42	chr1:103240400-103240800	Active TSS	Pancreas	Pancrea
43	chr1:103240400-103240800	Active TSS	Right Atrium	heart
44	chr1:103240400-103240800	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr1:103240400-103240800	Active TSS	NHDF-Ad	bronchial
46	chr1:103240400-103241000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr1:103240600-103240800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:103240600-103241600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:103240600-103241600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:103241000-103241800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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