Variant report

Variant	esv3513622
Chromosome Location	chr1:94287264-94292362
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	chr1:94290941..94292978-chr1:94306774..94308364,2	K562	blood:
2	chr1:94273349..94275410-chr1:94286366..94287981,2	K562	blood:

Extended variants
information (count: 162 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs550547879	chr1:94287314-94287315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75783057	chr1:94287324-94287325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570383881	chr1:94287346-94287347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558042290	chr1:94287450-94287451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115585434	chr1:94287480-94287481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188587618	chr1:94287578-94287579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552889138	chr1:94287588-94287589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570986717	chr1:94287592-94287593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113778889	chr1:94287674-94287675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370313610	chr1:94287692-94287693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200621857	chr1:94287742-94287743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs5776189	chr1:94287743-94287744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs397980849	chr1:94287755-94287756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568502823	chr1:94287791-94287792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535463390	chr1:94287832-94287833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184214413	chr1:94287837-94287838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572312634	chr1:94287889-94287890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34589621	chr1:94287899-94287900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs397965237	chr1:94287912-94287913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370392969	chr1:94287914-94287915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373764034	chr1:94287947-94287948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147860005	chr1:94287971-94287972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs59156680	chr1:94287978-94287979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11165009	chr1:94287996-94287997	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs141313632	chr1:94287998-94287999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572993811	chr1:94288037-94288038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543421000	chr1:94288140-94288141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540381362	chr1:94288142-94288143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561631074	chr1:94288175-94288176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528968259	chr1:94288212-94288213	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200773876	chr1:94288218-94288219	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12139877	chr1:94288273-94288274	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs188871687	chr1:94288303-94288304	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532789733	chr1:94288312-94288313	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111537038	chr1:94288313-94288314	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs398103030	chr1:94288323-94288324	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76187507	chr1:94288341-94288342	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17100397	chr1:94288342-94288343	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs181618300	chr1:94288476-94288477	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs184732721	chr1:94288521-94288522	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs12062925	chr1:94288524-94288525	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs74101579	chr1:94288556-94288557	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs145258120	chr1:94288656-94288657	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12402671	chr1:94288670-94288671	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs12410105	chr1:94288678-94288679	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs372023205	chr1:94288706-94288707	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568955517	chr1:94288707-94288708	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147893649	chr1:94288718-94288719	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141652613	chr1:94288750-94288751	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530005622	chr1:94288814-94288815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94279600-94302800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:94280000-94290000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:94281200-94289600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:94283000-94288400	Weak transcription	NHDF-Ad	bronchial
5	chr1:94283400-94290000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:94283400-94310000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:94283600-94287800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:94283600-94288400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:94283600-94293400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:94284000-94294600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:94284200-94292200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:94284200-94306200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:94284200-94311200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:94284400-94287400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:94284400-94289600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:94284400-94296000	Weak transcription	Fetal Intestine Small	intestine
17	chr1:94285000-94287400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:94285000-94288400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:94285400-94288000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:94285600-94287600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:94285600-94287800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr1:94285600-94288800	Enhancers	Placenta	Placenta
23	chr1:94285800-94287600	Enhancers	NH-A	brain
24	chr1:94285800-94287800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:94286000-94287600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr1:94286400-94294800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:94286600-94287600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:94286600-94287600	Enhancers	A549	lung
29	chr1:94286600-94295600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr1:94286800-94287400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:94286800-94287400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:94286800-94287600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:94286800-94287600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:94286800-94287600	Enhancers	Right Atrium	heart
35	chr1:94286800-94287600	Enhancers	HSMM	muscle
36	chr1:94286800-94287600	Enhancers	HSMMtube	muscle
37	chr1:94286800-94288600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:94287000-94288800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:94287000-94289400	Enhancers	HMEC	breast
40	chr1:94287000-94292400	Weak transcription	HUVEC	blood vessel
41	chr1:94287200-94287400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr1:94287200-94287600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr1:94287200-94287800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:94287200-94288200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:94287200-94289000	Enhancers	NHEK	skin
46	chr1:94287400-94288200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:94287400-94288600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:94287400-94289000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:94287400-94293600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:94287600-94291400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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