Variant report

Variant	esv1003322
Chromosome Location	chr1:94285785-94294520
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94294008..94296854-chr1:94310661..94313251,3	K562	blood:
2	chr1:94095273..94097251-chr1:94284521..94286111,2	MCF-7	breast:
3	chr1:94279623..94281366-chr1:94292858..94294814,2	MCF-7	breast:
4	chr1:94285157..94287017-chr1:94328663..94330459,2	K562	blood:
5	chr1:94273349..94275410-chr1:94286366..94287981,2	K562	blood:
6	chr1:94290941..94292978-chr1:94306774..94308364,2	K562	blood:

Variant related genes	Relation type
ENSG00000260464	chromatin interactions
ENSG00000211575	chromatin interactions
ENSG00000137936	chromatin interactions

Extended variants
information (count: 297 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529919190	chr1:94285808-94285809	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs182870659	chr1:94285858-94285859	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs35135739	chr1:94285926-94285927	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs386633524	chr1:94285931-94285932	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs12117504	chr1:94285933-94285934	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530599036	chr1:94285954-94285955	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs12139541	chr1:94285978-94285979	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12117532	chr1:94286003-94286004	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs72723157	chr1:94286056-94286057	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529729732	chr1:94286058-94286059	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372202334	chr1:94286077-94286078	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546248234	chr1:94286085-94286086	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187596972	chr1:94286088-94286089	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375219056	chr1:94286115-94286116	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555277627	chr1:94286116-94286117	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2818170	chr1:94286120-94286121	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190113986	chr1:94286129-94286130	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142489348	chr1:94286194-94286195	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577220448	chr1:94286205-94286206	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369099090	chr1:94286209-94286210	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559453962	chr1:94286213-94286214	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182923047	chr1:94286232-94286233	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541750986	chr1:94286236-94286237	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563419010	chr1:94286244-94286245	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563241459	chr1:94286260-94286261	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530660556	chr1:94286275-94286276	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150510457	chr1:94286362-94286363	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551569712	chr1:94286379-94286380	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139488458	chr1:94286389-94286390	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188378229	chr1:94286396-94286397	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199522430	chr1:94286466-94286467	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs72512587	chr1:94286467-94286468	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs35772261	chr1:94286468-94286469	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs377064381	chr1:94286469-94286470	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs373240522	chr1:94286507-94286508	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs192303280	chr1:94286509-94286510	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs12408194	chr1:94286548-94286549	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs75383596	chr1:94286574-94286575	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs149743217	chr1:94286592-94286593	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs57729501	chr1:94286635-94286636	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559166469	chr1:94286642-94286643	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113312328	chr1:94286782-94286783	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561136603	chr1:94286811-94286812	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570940283	chr1:94286845-94286846	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74101576	chr1:94286850-94286851	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs549976764	chr1:94286888-94286889	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553410939	chr1:94286942-94286943	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377378167	chr1:94286974-94286975	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74101577	chr1:94286976-94286977	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs184512326	chr1:94286980-94286981	Flanking Active TSS Enhancers Weak transcription	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:216 , 50 per page) page: 1 2 3 4 5

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	chr1:94280800-94285800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:94281200-94289600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:94281400-94285800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:94282400-94285800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:94283000-94286000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:94283000-94288400	Weak transcription	NHDF-Ad	bronchial
9	chr1:94283200-94286000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:94283200-94286600	Weak transcription	A549	lung
11	chr1:94283200-94286800	Weak transcription	HSMMtube	muscle
12	chr1:94283400-94285800	Weak transcription	NH-A	brain
13	chr1:94283400-94286800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:94283400-94290000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:94283400-94310000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:94283600-94286800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:94283600-94286800	Weak transcription	Right Atrium	heart
18	chr1:94283600-94286800	Weak transcription	HSMM	muscle
19	chr1:94283600-94287800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:94283600-94288400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:94283600-94293400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:94284000-94285800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:94284000-94294600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:94284200-94286000	Weak transcription	HUVEC	blood vessel
25	chr1:94284200-94286400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:94284200-94292200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:94284200-94306200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:94284200-94311200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:94284400-94286600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:94284400-94287400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:94284400-94289600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:94284400-94296000	Weak transcription	Fetal Intestine Small	intestine
33	chr1:94284600-94287000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:94285000-94286000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:94285000-94286200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:94285000-94287000	Weak transcription	HMEC	breast
37	chr1:94285000-94287400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:94285000-94288400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:94285200-94285800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:94285200-94286000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr1:94285200-94287200	Weak transcription	NHEK	skin
42	chr1:94285400-94286200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr1:94285400-94286200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr1:94285400-94288000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:94285600-94286000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr1:94285600-94286000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr1:94285600-94287600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr1:94285600-94287800	Enhancers	H9 Cell Line	embryonic stem cell
49	chr1:94285600-94288800	Enhancers	Placenta	Placenta
50	chr1:94285800-94286400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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