Variant report

Variant	esv1810714
Chromosome Location	chr1:86339811-86392577
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:86360393-86360593	K562	blood:	n/a	n/a
2	CEBPB	chr1:86354701-86354883	A549	lung:	n/a	n/a
3	CTCF	chr1:86377840-86377990	HPAF	blood vessel:	n/a	n/a
4	CTCF	chr1:86377460-86377610	NHEK	skin:	n/a	n/a
5	CTCF	chr1:86350420-86350570	HMEC	breast:	n/a	n/a
6	CTCF	chr1:86350426-86350611	Gliobla	brain:	n/a	n/a
7	CTCF	chr1:86377260-86377410	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr1:86377520-86377670	HMEC	breast:	n/a	n/a
9	CTCF	chr1:86377560-86377710	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr1:86360440-86360590	GM12865	blood:	n/a	chr1:86360532-86360545
11	CTCF	chr1:86360429-86360585	SK-N-SH_RA	brain:	n/a	chr1:86360532-86360545
12	CTCF	chr1:86377540-86377661	Fibrobl	skin:	n/a	n/a
13	CTCF	chr1:86377580-86377730	HVMF	connective:	n/a	n/a
14	CTCF	chr1:86377580-86377730	HEEpiC	esophagus:	n/a	n/a
15	CTCF	chr1:86360354-86360647	A549	lung:	n/a	chr1:86360532-86360545
16	CTCF	chr1:86360461-86360620	Lung_OC	lung:	n/a	chr1:86360532-86360545
17	CTCF	chr1:86360480-86360630	GM12871	blood:	n/a	chr1:86360532-86360545
18	CTCF	chr1:86377120-86377270	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr1:86350384-86350610	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr1:86377565-86377690	GM12878	blood:	n/a	n/a
21	CTCF	chr1:86377560-86377710	GM12865	blood:	n/a	n/a
22	CTCF	chr1:86360480-86360630	HFF	foreskin:	n/a	chr1:86360532-86360545
23	CTCF	chr1:86350460-86350610	SAEC	small airway:	n/a	n/a
24	CTCF	chr1:86350500-86350650	RPTEC	kidney:	n/a	n/a
25	CTCF	chr1:86377470-86377816	IMR90	lung:	n/a	n/a
26	CTCF	chr1:86377520-86377670	HCFaa	heart:	n/a	n/a
27	CTCF	chr1:86360580-86360730	HFF-Myc	foreskin:	n/a	n/a
28	CTCF	chr1:86360460-86360610	HEEpiC	esophagus:	n/a	chr1:86360532-86360545
29	CTCF	chr1:86350400-86350550	HVMF	connective:	n/a	n/a
30	CTCF	chr1:86360332-86360724	GM12878	blood:	n/a	chr1:86360532-86360545
31	CTCF	chr1:86359680-86359830	HMF	breast:	n/a	n/a
32	CTCF	chr1:86377520-86377670	GM12865	blood:	n/a	n/a
33	CTCF	chr1:86360460-86360610	HRPEpiC	eye:	n/a	chr1:86360532-86360545
34	CTCF	chr1:86377522-86377677	Gliobla	brain:	n/a	n/a
35	CTCF	chr1:86350400-86350550	AG04449	skin:	n/a	n/a
36	CTCF	chr1:86359640-86359790	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr1:86350040-86350190	AG09319	gingival:	n/a	n/a
38	CTCF	chr1:86360451-86360622	HepG2	liver:	n/a	chr1:86360532-86360545
39	CTCF	chr1:86377460-86377610	GM06990	blood:	n/a	n/a
40	CTCF	chr1:86377560-86377710	HA-sp	spinal cord:	n/a	n/a
41	CTCF	chr1:86350460-86350610	NHDF-neo	bronchial:	n/a	n/a
42	CTCF	chr1:86360400-86360550	GM12865	blood:	n/a	chr1:86360532-86360545
43	CTCF	chr1:86360320-86360470	WI-38	lung:	n/a	n/a
44	CTCF	chr1:86360439-86360622	Spleen_OC	spleen:	n/a	chr1:86360532-86360545
45	CTCF	chr1:86360500-86360650	GM12871	blood:	n/a	chr1:86360532-86360545
46	CTCF	chr1:86377339-86377923	A549	lung:	n/a	n/a
47	CTCF	chr1:86360420-86360570	K562	blood:	n/a	chr1:86360532-86360545
48	CTCF	chr1:86377560-86377710	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr1:86377560-86377710	HPF	lung:	n/a	n/a
50	CTCF	chr1:86350400-86350550	HAc	cerebellar:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:86373838..86377077-chr1:86378435..86381961,4	K562	blood:
2	chr1:86360058..86360590-chr1:86821594..86822114,2	MCF-7	breast:
3	chr1:86360081..86361020-chr1:86483694..86484478,3	MCF-7	breast:
4	chr1:86349495..86351039-chr1:86359014..86361069,2	MCF-7	breast:
5	chr1:86173609..86174719-chr1:86349901..86350977,5	MCF-7	breast:
6	chr1:86373838..86377077-chr1:86378435..86381961,4	K562	blood:
7	chr1:86349495..86351039-chr1:86359014..86361069,2	MCF-7	breast:
8	chr1:86289855..86290389-chr1:86350572..86351446,2	MCF-7	breast:

Variant related genes	Relation type
RNA5SP51	TF binding region
ENSG00000117174	chromatin interactions

Extended variants
information (count: 1943 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1943 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10873731	chr1:86339811-86339812	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546056927	chr1:86339900-86339901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539719815	chr1:86339940-86339941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187654413	chr1:86339941-86339942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376563696	chr1:86339976-86339977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562178576	chr1:86339986-86339987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191960969	chr1:86340111-86340112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140647667	chr1:86340125-86340126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567817334	chr1:86340131-86340132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11161696	chr1:86340193-86340194	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs72952569	chr1:86340240-86340241	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs376564147	chr1:86340261-86340262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12136023	chr1:86340262-86340263	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112815588	chr1:86340263-86340264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374378620	chr1:86340281-86340282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368280687	chr1:86340301-86340302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371153641	chr1:86340322-86340323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61785085	chr1:86340324-86340325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538248306	chr1:86340334-86340335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200035755	chr1:86340341-86340342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200448368	chr1:86340342-86340343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187387894	chr1:86340409-86340410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562768736	chr1:86340415-86340416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531491194	chr1:86340436-86340437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574877834	chr1:86340449-86340450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375776288	chr1:86340459-86340460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377732989	chr1:86340460-86340461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72952570	chr1:86340464-86340465	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs571466934	chr1:86340473-86340474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553711997	chr1:86340474-86340475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146564059	chr1:86340475-86340476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370950919	chr1:86340485-86340486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545645105	chr1:86340490-86340491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527426031	chr1:86340492-86340493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71499355	chr1:86340523-86340524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1564517	chr1:86340524-86340525	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs541432880	chr1:86340542-86340543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12026149	chr1:86340569-86340570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527438885	chr1:86340572-86340573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142055173	chr1:86340613-86340614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547456761	chr1:86340618-86340619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141228490	chr1:86340639-86340640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550148646	chr1:86340644-86340645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532764689	chr1:86340692-86340693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7524286	chr1:86340693-86340694	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs2086495	chr1:86340705-86340706	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575715241	chr1:86340724-86340725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555049083	chr1:86340729-86340730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150204843	chr1:86340784-86340785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1564516	chr1:86340794-86340795	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

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
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
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86331400-86341600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:86333200-86343800	Weak transcription	GM12878-XiMat	blood
3	chr1:86339200-86341200	Strong transcription	Fetal Lung	lung
4	chr1:86339400-86342600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:86339600-86342400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:86339800-86341200	Strong transcription	Primary hematopoietic stem cells	blood
7	chr1:86339800-86342400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:86341200-86343600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:86341200-86347000	Weak transcription	Fetal Lung	lung
10	chr1:86342400-86343800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:86342400-86370600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:86342600-86343600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:86343600-86344000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:86343800-86344400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:86344000-86347000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:86345400-86345600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:86345600-86370600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:86347000-86366000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:86349800-86350800	Enhancers	Dnd41	blood
20	chr1:86350000-86350400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:86350000-86350400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:86350000-86350400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr1:86354400-86355800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:86355000-86355400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:86361000-86366200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:86364200-86364800	Enhancers	NHDF-Ad	bronchial
27	chr1:86364400-86365000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:86366000-86366600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:86366200-86366800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr1:86366600-86374000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:86366800-86386400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr1:86370600-86371600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:86370600-86373400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:86371400-86371800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:86371600-86380800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:86373400-86382200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:86374000-86375000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:86374600-86375000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:86375000-86384800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:86380800-86381400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:86381400-86386000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:86382200-86382800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:86384800-86387800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:86386000-86387600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr1:86386000-86387600	ZNF genes & repeats	Fetal Lung	lung
46	chr1:86386400-86387200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr1:86387600-86399000	Weak transcription	Fetal Lung	lung
48	chr1:86387600-86399400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:86391000-86403200	Weak transcription	Primary hematopoietic stem cells	blood

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