Variant report

Variant	esv3344445
Chromosome Location	chr1:86212214-86221212
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	CTCF	chr1:86212540-86212690	HVMF	connective:	n/a	chr1:86212639-86212648
2	CTCF	chr1:86212540-86212690	BE2_C	brain:	n/a	chr1:86212639-86212648
3	CTCF	chr1:86212540-86212690	AG10803	skin:	n/a	chr1:86212639-86212648
4	CTCF	chr1:86212480-86212630	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr1:86212560-86212710	GM12864	blood:	n/a	chr1:86212639-86212648
6	CTCF	chr1:86212560-86212710	HPAF	blood vessel:	n/a	chr1:86212639-86212648
7	CTCF	chr1:86212320-86212470	GM06990	blood:	n/a	n/a
8	CTCF	chr1:86212500-86212650	HVMF	connective:	n/a	chr1:86212639-86212648
9	CTCF	chr1:86212380-86212530	HEEpiC	esophagus:	n/a	n/a
10	CTCF	chr1:86212560-86212710	SAEC	small airway:	n/a	chr1:86212639-86212648
11	CTCF	chr1:86212500-86212650	AG04450	lung:	n/a	chr1:86212639-86212648
12	CTCF	chr1:86212560-86212710	GM12872	blood:	n/a	chr1:86212639-86212648
13	CTCF	chr1:86212586-86212660	HUVEC	blood vessel:	n/a	chr1:86212639-86212648
14	CTCF	chr1:86212520-86212670	MCF-7	breast:	n/a	chr1:86212639-86212648
15	CTCF	chr1:86212480-86212630	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr1:86212540-86212690	HEK293	kidney:	n/a	chr1:86212639-86212648
17	CTCF	chr1:86212520-86212670	GM12865	blood:	n/a	chr1:86212639-86212648
18	CTCF	chr1:86212460-86212610	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr1:86212440-86212590	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr1:86212600-86212750	NHEK	skin:	n/a	chr1:86212639-86212648
21	CTCF	chr1:86212580-86212730	GM12873	blood:	n/a	chr1:86212639-86212648
22	CTCF	chr1:86212520-86212670	HMF	breast:	n/a	chr1:86212639-86212648
23	CTCF	chr1:86212500-86212650	GM12868	blood:	n/a	chr1:86212639-86212648
24	CTCF	chr1:86212618-86212665	HepG2	liver:	n/a	chr1:86212639-86212648
25	CTCF	chr1:86212580-86212730	HCFaa	heart:	n/a	chr1:86212639-86212648
26	CTCF	chr1:86212540-86212690	MCF-7	breast:	n/a	chr1:86212639-86212648
27	CTCF	chr1:86212520-86212670	GM12871	blood:	n/a	chr1:86212639-86212648
28	CTCF	chr1:86212580-86212730	HMF	breast:	n/a	chr1:86212639-86212648
29	CTCF	chr1:86212540-86212690	HCT-116	colon:	n/a	chr1:86212639-86212648
30	CTCF	chr1:86212520-86212670	GM12878	blood:	n/a	chr1:86212639-86212648
31	CTCF	chr1:86212560-86212710	RPTEC	kidney:	n/a	chr1:86212639-86212648
32	CTCF	chr1:86212580-86212730	GM12866	blood:	n/a	chr1:86212639-86212648
33	CTCF	chr1:86212520-86212670	HepG2	liver:	n/a	chr1:86212639-86212648
34	CTCF	chr1:86212560-86212710	HMEC	breast:	n/a	chr1:86212639-86212648
35	CTCF	chr1:86212440-86212590	AG04450	lung:	n/a	n/a
36	CTCF	chr1:86212480-86212630	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr1:86212480-86212630	GM12874	blood:	n/a	n/a
38	CTCF	chr1:86212598-86212694	Hela-S3	cervix:	n/a	chr1:86212639-86212648
39	FOXA2	chr1:86214286-86215022	A549	lung:	n/a	n/a
40	FOXA2	chr1:86214482-86214844	A549	lung:	n/a	n/a
41	MAFF	chr1:86213900-86213975	K562	blood:	n/a	n/a
42	RAD21	chr1:86212488-86212573	HepG2	liver:	n/a	n/a
43	YY1	chr1:86214088-86214243	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86211855..86213533-chr1:86285001..86287776,2	K562	blood:
2	chr1:86045430..86047894-chr1:86210849..86213430,2	K562	blood:

Variant related genes	Relation type
COL24A1	TF binding region
ENSG00000142871	chromatin interactions

Extended variants
information (count: 234 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:234 , 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	rs79814694	chr1:86212218-86212219	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538776178	chr1:86212261-86212262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558317842	chr1:86212296-86212297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545363894	chr1:86212304-86212305	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562257536	chr1:86212306-86212307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs531338426	chr1:86212315-86212316	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs450953	chr1:86212324-86212325	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs111879201	chr1:86212343-86212344	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs115055549	chr1:86212412-86212413	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs115893216	chr1:86212413-86212414	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs189026691	chr1:86212415-86212416	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs532574365	chr1:86212473-86212474	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs146326735	chr1:86212477-86212478	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs557030916	chr1:86212486-86212487	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs569262450	chr1:86212497-86212498	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs538373136	chr1:86212532-86212533	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs374053118	chr1:86212533-86212534	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs139554259	chr1:86212633-86212634	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs568287084	chr1:86212641-86212642	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs191822452	chr1:86212642-86212643	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs183989439	chr1:86212655-86212656	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs189272025	chr1:86212666-86212667	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs375321592	chr1:86212694-86212695	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs575126769	chr1:86212710-86212711	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs72948687	chr1:86212745-86212746	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs141210078	chr1:86212784-86212785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531049222	chr1:86212785-86212786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs34758363	chr1:86212807-86212808	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146280481	chr1:86212826-86212827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs541562395	chr1:86212838-86212839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539440855	chr1:86212854-86212855	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs544099892	chr1:86212858-86212859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs180751007	chr1:86212864-86212865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs540444937	chr1:86212888-86212889	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs111389152	chr1:86212898-86212899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185894808	chr1:86212923-86212924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs552885111	chr1:86212939-86212940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562918329	chr1:86212955-86212956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs540924493	chr1:86212979-86212980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531729478	chr1:86212983-86212984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572490716	chr1:86212985-86212986	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs190749383	chr1:86213046-86213047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs149932685	chr1:86213086-86213087	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs145026742	chr1:86213087-86213088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs547309645	chr1:86213093-86213094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs570290650	chr1:86213156-86213157	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs539395557	chr1:86213218-86213219	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs556028025	chr1:86213220-86213221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs76788212	chr1:86213236-86213237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs535058729	chr1:86213237-86213238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86207800-86221800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:86210200-86213600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:86210800-86220200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:86211400-86220400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:86213600-86214200	ZNF genes & repeats	K562	blood
6	chr1:86218600-86220400	Weak transcription	Fetal Lung	lung
7	chr1:86220200-86222600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:86220400-86220800	ZNF genes & repeats	Fetal Lung	lung
9	chr1:86220400-86222400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:86220800-86222400	Weak transcription	Fetal Lung	lung

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