Variant report

Variant	esv3500353
Chromosome Location	chr1:84711314-84717012
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	chr1:84707348..84709881-chr1:84716416..84718748,2	K562	blood:
2	chr1:84708889..84710683-chr1:84712706..84714926,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226970	chromatin interactions

Extended variants
information (count: 209 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553701139	chr1:84711321-84711322	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs200798283	chr1:84711351-84711352	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540628860	chr1:84711355-84711356	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs151274786	chr1:84711364-84711365	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs545031260	chr1:84711413-84711414	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs116532988	chr1:84711441-84711442	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs530312341	chr1:84711446-84711447	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs550088586	chr1:84711489-84711490	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs115999384	chr1:84711513-84711514	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs544279687	chr1:84711541-84711542	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs560964678	chr1:84711565-84711566	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs529834896	chr1:84711580-84711581	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs190663331	chr1:84711581-84711582	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs560023692	chr1:84711593-84711594	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs141048287	chr1:84711595-84711596	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs551502966	chr1:84711623-84711624	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571598303	chr1:84711664-84711665	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181762715	chr1:84711699-84711700	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs316631	chr1:84711710-84711711	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs567906639	chr1:84711724-84711725	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376475618	chr1:84711749-84711750	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186320049	chr1:84711754-84711755	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547175423	chr1:84711760-84711761	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs316630	chr1:84711771-84711772	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs539291889	chr1:84711828-84711829	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs558302411	chr1:84711836-84711837	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs534678832	chr1:84711878-84711879	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs575167246	chr1:84711915-84711916	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs117006163	chr1:84711926-84711927	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs554245500	chr1:84711937-84711938	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs574152121	chr1:84711982-84711983	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs150216290	chr1:84711983-84711984	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs559884488	chr1:84712001-84712002	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs377732968	chr1:84712006-84712007	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs576753211	chr1:84712024-84712025	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs546065527	chr1:84712026-84712027	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs147915295	chr1:84712048-84712049	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs536531284	chr1:84712074-84712075	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs530932512	chr1:84712223-84712224	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs550655511	chr1:84712228-84712229	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs72940051	chr1:84712278-84712279	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs530183046	chr1:84712376-84712377	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs141518700	chr1:84712432-84712433	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs191282352	chr1:84712467-84712468	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs147028038	chr1:84712484-84712485	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs552830934	chr1:84712498-84712499	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs569401837	chr1:84712526-84712527	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs72713015	chr1:84712529-84712530	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs554108356	chr1:84712532-84712533	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs574212148	chr1:84712549-84712550	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84675200-84712800	Weak transcription	NH-A	brain
2	chr1:84685600-84713400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:84690000-84719400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:84690400-84711800	Weak transcription	Spleen	Spleen
5	chr1:84691200-84712200	Weak transcription	Pancreas	Pancrea
6	chr1:84699600-84713000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:84699800-84711600	Weak transcription	A549	lung
8	chr1:84701200-84711800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:84701200-84713200	Weak transcription	Colonic Mucosa	Colon
10	chr1:84701200-84717400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:84701200-84718400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:84701200-84719600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:84701400-84713000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:84701400-84713000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:84701400-84719800	Weak transcription	Fetal Heart	heart
16	chr1:84701400-84719800	Weak transcription	HSMM	muscle
17	chr1:84701800-84711600	Weak transcription	Fetal Lung	lung
18	chr1:84702800-84713200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:84705800-84711600	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:84705800-84711800	Weak transcription	Brain Angular Gyrus	brain
21	chr1:84705800-84712000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:84705800-84713000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:84705800-84723000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:84706000-84711400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:84706000-84711800	Weak transcription	Brain Anterior Caudate	brain
26	chr1:84706000-84711800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:84706000-84713000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:84706000-84713400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:84706200-84711600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:84706200-84711800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:84706200-84713400	Weak transcription	Fetal Intestine Large	intestine
32	chr1:84706600-84711600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:84706600-84713000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:84709600-84711600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:84710200-84711600	Enhancers	Primary hematopoietic stem cells	blood
36	chr1:84710600-84711800	Enhancers	HUVEC	blood vessel
37	chr1:84711000-84712800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:84711000-84713800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:84711200-84711400	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr1:84711200-84711400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:84711200-84711400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:84711200-84712400	Enhancers	Brain Substantia Nigra	brain
43	chr1:84711200-84712400	Enhancers	Stomach Mucosa	stomach
44	chr1:84711200-84713000	Enhancers	K562	blood
45	chr1:84711400-84711600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr1:84711400-84711800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:84711600-84711800	Enhancers	Brain Hippocampus Middle	brain
48	chr1:84711600-84711800	Enhancers	Fetal Lung	lung
49	chr1:84711600-84712200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr1:84711600-84712400	Flanking Active TSS	Primary hematopoietic stem cells	blood

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