Variant report

Variant	esv3446549
Chromosome Location	chr1:92596110-92610495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92597223..92599261-chr1:92601215..92603024,2	K562	blood:
2	chr1:92597223..92599261-chr1:92601215..92603024,2	K562	blood:

Extended variants
information (count: 527 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:527 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28409824	chr1:92596112-92596113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28398921	chr1:92596115-92596116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184583278	chr1:92596116-92596117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs59796834	chr1:92596124-92596125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71710875	chr1:92596125-92596126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3884206	chr1:92596126-92596127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573414464	chr1:92596132-92596133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12748169	chr1:92596138-92596139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12748170	chr1:92596140-92596141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12760576	chr1:92596146-92596147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555649908	chr1:92596178-92596179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573716954	chr1:92596183-92596184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115577982	chr1:92596201-92596202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562192882	chr1:92596211-92596212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146422616	chr1:92596220-92596221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544563602	chr1:92596240-92596241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12726116	chr1:92596259-92596260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560418256	chr1:92596296-92596297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527557124	chr1:92596307-92596308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187411553	chr1:92596360-92596361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537870488	chr1:92596382-92596383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529453323	chr1:92596400-92596401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192522116	chr1:92596408-92596409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140908200	chr1:92596409-92596410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539842287	chr1:92596438-92596439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557842184	chr1:92596457-92596458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567172060	chr1:92596460-92596461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184761058	chr1:92596503-92596504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377300097	chr1:92596512-92596513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369354264	chr1:92596514-92596515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201981715	chr1:92596529-92596530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367713329	chr1:92596539-92596540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543944235	chr1:92596541-92596542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188451354	chr1:92596558-92596559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577289669	chr1:92596562-92596563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373258447	chr1:92596564-92596565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559876615	chr1:92596576-92596577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527609677	chr1:92596617-92596618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542552720	chr1:92596650-92596651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115234562	chr1:92596682-92596683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550916509	chr1:92596706-92596707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144637174	chr1:92596751-92596752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531542443	chr1:92596761-92596762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377736956	chr1:92596873-92596874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145574161	chr1:92596879-92596880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115427070	chr1:92596881-92596882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377412559	chr1:92596898-92596899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148869716	chr1:92596935-92596936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551789018	chr1:92596998-92596999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180894128	chr1:92597002-92597003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92552600-92613400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:92552800-92613600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:92555200-92620400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:92556000-92613600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:92556600-92613400	Weak transcription	Fetal Brain Female	brain
6	chr1:92557400-92598000	Weak transcription	Spleen	Spleen
7	chr1:92558000-92604000	Weak transcription	Left Ventricle	heart
8	chr1:92560000-92613600	Weak transcription	Brain Anterior Caudate	brain
9	chr1:92561200-92619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:92567200-92624200	Weak transcription	Fetal Stomach	stomach
11	chr1:92567400-92618000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:92568200-92616400	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:92569800-92613600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:92570000-92619600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:92571800-92601600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:92571800-92613400	Weak transcription	Dnd41	blood
17	chr1:92572000-92613400	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:92574000-92613400	Weak transcription	Fetal Lung	lung
19	chr1:92580800-92615200	Weak transcription	Lung	lung
20	chr1:92580800-92619000	Weak transcription	Pancreas	Pancrea
21	chr1:92581400-92597200	Weak transcription	Fetal Intestine Small	intestine
22	chr1:92581400-92613600	Weak transcription	Liver	Liver
23	chr1:92586000-92613400	Weak transcription	Esophagus	oesophagus
24	chr1:92586400-92601600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:92589600-92600200	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:92590000-92598000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:92590200-92596200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:92590200-92613400	Weak transcription	Brain Angular Gyrus	brain
29	chr1:92590200-92624400	Weak transcription	Psoas Muscle	Psoas
30	chr1:92591200-92613000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:92591200-92613600	Weak transcription	Aorta	Aorta
32	chr1:92591200-92615200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:92591400-92596200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr1:92594000-92601600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:92594000-92613400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:92594000-92618200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr1:92594800-92599200	Strong transcription	Fetal Intestine Large	intestine
38	chr1:92595000-92601800	Weak transcription	Fetal Brain Male	brain
39	chr1:92595200-92596600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:92595200-92596600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr1:92595200-92597800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr1:92595200-92598400	Strong transcription	Ovary	ovary
43	chr1:92595600-92596200	Strong transcription	Brain Germinal Matrix	brain
44	chr1:92595600-92599200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:92595800-92596800	Weak transcription	Primary T cells from cord blood	blood
46	chr1:92595800-92596800	Strong transcription	Adipose Nuclei	Adipose
47	chr1:92596000-92601600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:92596200-92598400	Strong transcription	Brain Cingulate Gyrus	brain
49	chr1:92596200-92598600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:92596200-92614000	Weak transcription	Brain Germinal Matrix	brain

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