Variant report

Variant	esv1796871
Chromosome Location	chr1:85416189-85430851
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85424847..85426779-chr1:85430134..85432715,2	K562	blood:
2	chr1:85424847..85426779-chr1:85430134..85432715,2	K562	blood:
3	chr1:85400043..85402617-chr1:85426319..85428955,2	MCF-7	breast:
4	chr1:85411165..85413303-chr1:85416818..85418943,2	K562	blood:
5	chr1:85420041..85422749-chr1:85426305..85427905,2	K562	blood:
6	chr1:85420041..85422749-chr1:85426305..85427905,2	K562	blood:

Extended variants
information (count: 556 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:556 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2025597	chr1:85416189-85416190	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547349707	chr1:85416211-85416212	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs534720957	chr1:85416225-85416226	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs545460266	chr1:85416268-85416269	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs532811483	chr1:85416281-85416282	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557705572	chr1:85416348-85416349	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs80253460	chr1:85416393-85416394	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs553689511	chr1:85416496-85416497	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs537550525	chr1:85416506-85416507	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs573653830	chr1:85416508-85416509	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs554235110	chr1:85416513-85416514	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs567751832	chr1:85416550-85416551	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs533524720	chr1:85416568-85416569	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs553700896	chr1:85416609-85416610	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs74098721	chr1:85416611-85416612	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs185536360	chr1:85416614-85416615	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs143099360	chr1:85416656-85416657	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs576180146	chr1:85416696-85416697	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs544755197	chr1:85416706-85416707	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs190393822	chr1:85416767-85416768	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs12138367	chr1:85416796-85416797	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs148192398	chr1:85416822-85416823	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs560503377	chr1:85416828-85416829	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs76624861	chr1:85416840-85416841	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs12124346	chr1:85416841-85416842	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs79400883	chr1:85416849-85416850	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs368883842	chr1:85417032-85417033	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs572659647	chr1:85417157-85417158	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs181481357	chr1:85417158-85417159	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs567837994	chr1:85417159-85417160	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs149433714	chr1:85417161-85417162	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs533610701	chr1:85417170-85417171	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs371433030	chr1:85417199-85417200	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs541565798	chr1:85417233-85417234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12239332	chr1:85417263-85417264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570383372	chr1:85417298-85417299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561343773	chr1:85417365-85417366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12032915	chr1:85417378-85417379	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs369451353	chr1:85417435-85417436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184092305	chr1:85417450-85417451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576336352	chr1:85417521-85417522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535621527	chr1:85417522-85417523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35177056	chr1:85417526-85417527	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs386633071	chr1:85417527-85417528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2043884	chr1:85417528-85417529	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs34488408	chr1:85417529-85417530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34430554	chr1:85417546-85417547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560288936	chr1:85417550-85417551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145262668	chr1:85417554-85417555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138464545	chr1:85417648-85417649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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
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
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	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
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85402000-85419600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:85411400-85416400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:85411400-85426200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:85411800-85416200	Weak transcription	Primary B cells from cord blood	blood
5	chr1:85412000-85424600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:85412000-85425200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:85412200-85430200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:85413200-85416800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:85413800-85416400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:85415400-85417200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:85415400-85417200	ZNF genes & repeats	GM12878-XiMat	blood
12	chr1:85416000-85419200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr1:85416200-85416800	Strong transcription	Primary B cells from cord blood	blood
14	chr1:85416200-85435400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:85416400-85417200	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr1:85416800-85417200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:85416800-85418000	Weak transcription	Primary B cells from cord blood	blood
18	chr1:85417200-85425000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:85417200-85425000	Strong transcription	GM12878-XiMat	blood
20	chr1:85417200-85428600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:85418800-85420600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:85419200-85420000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr1:85419200-85420200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr1:85419400-85420000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:85420000-85421000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr1:85420200-85420400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr1:85421000-85422000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr1:85421400-85425200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:85421800-85422800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:85422000-85423200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr1:85422600-85422800	Enhancers	Placenta	Placenta
32	chr1:85422800-85425200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:85423200-85430400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr1:85424600-85424800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:85425000-85425600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:85425000-85426400	Enhancers	Osteobl	bone
37	chr1:85425000-85426600	Genic enhancers	GM12878-XiMat	blood
38	chr1:85425200-85425400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr1:85425200-85425400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:85425200-85426400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:85425200-85426400	Enhancers	NHDF-Ad	bronchial
42	chr1:85425200-85426600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:85425200-85427000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:85425200-85427000	Enhancers	NHLF	lung
45	chr1:85425200-85427600	Enhancers	Fetal Lung	lung
46	chr1:85425600-85426000	Enhancers	Placenta	Placenta
47	chr1:85425600-85435200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:85425800-85426000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:85425800-85427200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:85425800-85427200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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