Variant report

Variant	esv3441748
Chromosome Location	chr1:75866980-75890018
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:221)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:221 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:75888899-75889838	K562	blood:	n/a	n/a
2	ARID3A	chr1:75878436-75878779	K562	blood:	n/a	n/a
3	ARID3A	chr1:75887891-75888450	K562	blood:	n/a	n/a
4	ATF1	chr1:75878326-75878705	K562	blood:	n/a	n/a
5	ATF1	chr1:75889272-75889641	K562	blood:	n/a	n/a
6	ATF3	chr1:75878356-75878660	K562	blood:	n/a	n/a
7	BHLHE40	chr1:75878374-75878636	K562	blood:	n/a	n/a
8	BHLHE40	chr1:75889314-75889840	K562	blood:	n/a	n/a
9	CBX3	chr1:75881926-75882288	K562	blood:	n/a	n/a
10	CBX3	chr1:75880847-75881215	K562	blood:	n/a	n/a
11	CBX3	chr1:75881984-75882261	K562	blood:	n/a	n/a
12	CCNT2	chr1:75888912-75889651	K562	blood:	n/a	n/a
13	CEBPB	chr1:75889298-75889585	K562	blood:	n/a	n/a
14	CTCF	chr1:75889600-75889750	K562	blood:	n/a	n/a
15	CTCF	chr1:75889420-75889570	MCF-7	breast:	n/a	n/a
16	CTCF	chr1:75889500-75889650	AG09319	gingival:	n/a	n/a
17	CTCF	chr1:75889119-75890022	SK-N-SH	brain:	n/a	n/a
18	CTCF	chr1:75889520-75889670	HCT-116	colon:	n/a	n/a
19	CTCF	chr1:75868977-75869198	K562	blood:	n/a	n/a
20	CTCF	chr1:75868950-75869152	K562	blood:	n/a	n/a
21	CTCF	chr1:75889447-75889704	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr1:75889500-75889650	HEK293	kidney:	n/a	n/a
23	CTCF	chr1:75889620-75889770	BE2_C	brain:	n/a	n/a
24	CTCF	chr1:75882160-75882310	GM12872	blood:	n/a	n/a
25	CTCF	chr1:75889560-75889710	HCPEpiC	choroid plexus:	n/a	n/a
26	CTCF	chr1:75889540-75889690	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr1:75889500-75889650	GM12874	blood:	n/a	n/a
28	CTCF	chr1:75889560-75889710	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr1:75868980-75869130	HepG2	liver:	n/a	n/a
30	CTCF	chr1:75889551-75889690	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr1:75889510-75889704	K562	blood:	n/a	n/a
32	CTCF	chr1:75880959-75881009	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr1:75889516-75889654	GM12878	blood:	n/a	n/a
34	CTCF	chr1:75889462-75889776	GM12878	blood:	n/a	n/a
35	CTCF	chr1:75889540-75889690	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr1:75868980-75869130	K562	blood:	n/a	n/a
37	CTCF	chr1:75889560-75889710	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr1:75889480-75889630	GM12871	blood:	n/a	n/a
39	CTCF	chr1:75889540-75889690	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr1:75889543-75889703	HepG2	liver:	n/a	n/a
41	CTCF	chr1:75889560-75889710	HMEC	breast:	n/a	n/a
42	CTCF	chr1:75889340-75889490	GM12864	blood:	n/a	n/a
43	CTCF	chr1:75889540-75889690	GM12878	blood:	n/a	n/a
44	CTCF	chr1:75889560-75889710	GM12869	blood:	n/a	n/a
45	CTCF	chr1:75882193-75882268	GM13977	blood:	n/a	n/a
46	CTCF	chr1:75882180-75882330	HepG2	liver:	n/a	n/a
47	CTCF	chr1:75882200-75882350	GM12873	blood:	n/a	n/a
48	CTCF	chr1:75882240-75882258	GM12878	blood:	n/a	n/a
49	CTCF	chr1:75889540-75889690	Caco-2	colon:	n/a	n/a
50	CTCF	chr1:75869080-75869230	BE2_C	brain:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75887927..75890320-chr1:76006872..76008474,2	K562	blood:

No data

Variant related genes	Relation type
SLC44A5	TF binding region

Extended variants
information (count: 380 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538909315	chr1:75867015-75867016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111837979	chr1:75867047-75867048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370076207	chr1:75867111-75867112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549474046	chr1:75867160-75867161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533170322	chr1:75867216-75867217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372417419	chr1:75867277-75867278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554517128	chr1:75867314-75867315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141042589	chr1:75867332-75867333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144890064	chr1:75867355-75867356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569316579	chr1:75867371-75867372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558669814	chr1:75867384-75867385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147951895	chr1:75867426-75867427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544834548	chr1:75867521-75867522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141778578	chr1:75867554-75867555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531274850	chr1:75867588-75867589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143759950	chr1:75867606-75867607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369018963	chr1:75867626-75867627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542958137	chr1:75867628-75867629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76985505	chr1:75867638-75867639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558325183	chr1:75867666-75867667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372742069	chr1:75867707-75867708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374769287	chr1:75867723-75867724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182099766	chr1:75867742-75867743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375999979	chr1:75867783-75867784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567520662	chr1:75867793-75867794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369458144	chr1:75867840-75867841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140149877	chr1:75867896-75867897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs578111307	chr1:75867942-75867943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530298054	chr1:75868008-75868009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372844608	chr1:75868014-75868015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543325396	chr1:75868016-75868017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566521886	chr1:75868077-75868078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373634874	chr1:75868085-75868086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150303480	chr1:75868132-75868133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558918832	chr1:75868144-75868145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570808705	chr1:75868175-75868176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554059221	chr1:75868189-75868190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186092615	chr1:75868191-75868192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs137865451	chr1:75868203-75868204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575544743	chr1:75868217-75868218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142337521	chr1:75868218-75868219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1249777	chr1:75868236-75868237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs188848765	chr1:75868238-75868239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373096631	chr1:75868287-75868288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540196846	chr1:75868292-75868293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557776467	chr1:75868327-75868328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181108553	chr1:75868328-75868329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185315360	chr1:75868358-75868359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190915335	chr1:75868375-75868376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541402602	chr1:75868381-75868382	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	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
Melanoma	17363583	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
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75867000-75867600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr1:75867600-75868000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:75868000-75868400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:75868800-75869400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:75876600-75876800	Enhancers	K562	blood
6	chr1:75877000-75878000	Weak transcription	K562	blood
7	chr1:75878000-75878800	Enhancers	HMEC	breast
8	chr1:75878000-75878800	Enhancers	K562	blood
9	chr1:75878200-75878600	Enhancers	NH-A	brain
10	chr1:75883600-75883800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr1:75883800-75889000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:75885600-75886000	Enhancers	K562	blood
13	chr1:75886000-75887600	Weak transcription	K562	blood
14	chr1:75887000-75887400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:75887400-75889800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:75887600-75888200	Enhancers	K562	blood
17	chr1:75888200-75889000	Flanking Active TSS	K562	blood
18	chr1:75888800-75894600	Enhancers	Fetal Heart	heart
19	chr1:75889000-75889200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr1:75889000-75889400	Active TSS	K562	blood
21	chr1:75889200-75889600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr1:75889400-75889600	Flanking Active TSS	K562	blood
23	chr1:75889400-75889800	Enhancers	Fetal Brain Male	brain
24	chr1:75889400-75890200	Enhancers	Pancreas	Pancrea
25	chr1:75889600-75890000	Enhancers	K562	blood
26	chr1:75889800-75891200	Weak transcription	Fetal Brain Male	brain
27	chr1:75890000-75891000	Weak transcription	K562	blood

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