Variant report

Variant	nsv945995
Chromosome Location	chr1:71517111-71520224
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:147)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:147 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr1:71519269-71519551	GM12878	blood:	n/a	n/a
2	BCL3	chr1:71519880-71520371	GM12878	blood:	n/a	n/a
3	BCL3	chr1:71520071-71520452	A549	lung:	n/a	n/a
4	BCL3	chr1:71519320-71519760	GM12878	blood:	n/a	chr1:71519579-71519588
5	BCL3	chr1:71520059-71520490	GM12878	blood:	n/a	n/a
6	BCL3	chr1:71519053-71519454	A549	lung:	n/a	n/a
7	BCL3	chr1:71519995-71520422	A549	lung:	n/a	n/a
8	BCLAF1	chr1:71520077-71520541	GM12878	blood:	n/a	n/a
9	BCLAF1	chr1:71519270-71519790	GM12878	blood:	n/a	chr1:71519579-71519588
10	CCNT2	chr1:71520018-71520518	K562	blood:	n/a	chr1:71520339-71520348
11	CHD2	chr1:71519903-71519908	K562	blood:	n/a	n/a
12	CHD2	chr1:71519625-71519677	GM12878	blood:	n/a	n/a
13	CHD2	chr1:71519725-71519868	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr1:71520155-71520204	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F4	chr1:71519692-71519714	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F6	chr1:71519332-71519749	H1-hESC	embryonic stem cell:	n/a	n/a
17	E2F6	chr1:71520113-71520572	H1-hESC	embryonic stem cell:	n/a	n/a
18	E2F6	chr1:71519344-71519931	H1-hESC	embryonic stem cell:	n/a	n/a
19	EBF1	chr1:71518727-71519026	GM12878	blood:	n/a	chr1:71518866-71518877
20	EBF1	chr1:71519359-71519588	GM12878	blood:	n/a	chr1:71519486-71519497
21	FOSL2	chr1:71518761-71520865	HepG2	liver:	n/a	chr1:71519957-71519971
22	HMGN3	chr1:71519925-71520462	K562	blood:	n/a	n/a
23	MAX	chr1:71519344-71519632	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr1:71519270-71519654	H1-hESC	embryonic stem cell:	n/a	n/a
25	MTA3	chr1:71519193-71521241	GM12878	blood:	n/a	n/a
26	MXI1	chr1:71517740-71517795	GM12878	blood:	n/a	n/a
27	NFATC1	chr1:71518743-71521240	GM12878	blood:	n/a	n/a
28	NFATC1	chr1:71519147-71521215	GM12878	blood:	n/a	n/a
29	PBX3	chr1:71517208-71517302	GM12878	blood:	n/a	n/a
30	PML	chr1:71519168-71520628	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:71519949-71521210	HCT-116	colon:	n/a	n/a
32	POLR2A	chr1:71518837-71518864	HepG2	liver:	n/a	n/a
33	POLR2A	chr1:71518549-71523144	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr1:71520195-71520210	MCF-7	breast:	n/a	n/a
35	POLR2A	chr1:71518435-71518494	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr1:71519973-71520077	A549	lung:	n/a	n/a
37	POLR2A	chr1:71519303-71520801	K562	blood:	n/a	n/a
38	POLR2A	chr1:71517399-71517533	HepG2	liver:	n/a	n/a
39	POLR2A	chr1:71520020-71521057	HepG2	liver:	n/a	n/a
40	POLR2A	chr1:71519184-71521518	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr1:71518634-71521661	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:71519828-71521516	U87	brain:	n/a	n/a
43	POLR2A	chr1:71519938-71520963	K562	blood:	n/a	n/a
44	POLR2A	chr1:71519266-71521648	GM12892	blood:	n/a	n/a
45	POLR2A	chr1:71519940-71520390	A549	lung:	n/a	n/a
46	POLR2A	chr1:71520012-71520365	GM12878	blood:	n/a	n/a
47	POLR2A	chr1:71517495-71528843	HepG2	liver:	n/a	n/a
48	POLR2A	chr1:71519251-71519716	GM12891	blood:	n/a	n/a
49	POLR2A	chr1:71519930-71520298	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr1:71517482-71520991	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:71517800..71519685-chr1:71543995..71546531,2	MCF-7	breast:
2	chr1:70975411..70978050-chr1:71517707..71520694,2	K562	blood:
3	chr1:71514045..71515688-chr1:71517488..71519472,2	K562	blood:
4	chr1:71374929..71377417-chr1:71518030..71520956,2	K562	blood:
5	chr1:71389776..71391612-chr1:71519550..71521085,2	K562	blood:
6	chr1:71516613..71518647-chr1:71521237..71523462,2	K562	blood:

No data

Variant related genes	Relation type
ZRANB2-AS1	TF binding region
PTGER3	TF binding region
ENSG00000235079	chromatin interactions

Extended variants
information (count: 119 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55874319	chr1:71517120-71517121	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs188459448	chr1:71517143-71517144	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs146259122	chr1:71517188-71517189	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs191384051	chr1:71517211-71517212	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs115549655	chr1:71517242-71517243	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs573249569	chr1:71517250-71517251	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs542050975	chr1:71517265-71517266	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs67634077	chr1:71517270-71517271	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs575768280	chr1:71517280-71517281	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs2817868	chr1:71517294-71517295	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs76635303	chr1:71517299-71517300	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs72671075	chr1:71517345-71517346	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs558689279	chr1:71517360-71517361	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs12116872	chr1:71517372-71517373	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs113411257	chr1:71517387-71517388	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs560462984	chr1:71517404-71517405	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs184286256	chr1:71517422-71517423	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs570677735	chr1:71517425-71517426	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs569006969	chr1:71517465-71517466	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs531422117	chr1:71517475-71517476	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs535199812	chr1:71517498-71517499	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs534609480	chr1:71517507-71517508	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs112599350	chr1:71517532-71517533	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs12116924	chr1:71517552-71517553	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs188582412	chr1:71517568-71517569	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs12116931	chr1:71517615-71517616	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs367815680	chr1:71517619-71517620	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs570641173	chr1:71517654-71517655	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs181176716	chr1:71517687-71517688	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs546631640	chr1:71517742-71517743	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs574667135	chr1:71517756-71517757	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs566539253	chr1:71517774-71517775	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs12116999	chr1:71517800-71517801	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs185345678	chr1:71517803-71517804	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs149015435	chr1:71517817-71517818	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs189823102	chr1:71517822-71517823	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs575777184	chr1:71517938-71517939	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs145876444	chr1:71517989-71517990	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs532635378	chr1:71518017-71518018	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs557881893	chr1:71518090-71518091	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs74090230	chr1:71518108-71518109	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542072609	chr1:71518112-71518113	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs570269268	chr1:71518128-71518129	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs60387882	chr1:71518141-71518142	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs560143317	chr1:71518143-71518144	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs7516464	chr1:71518153-71518154	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs562675048	chr1:71518156-71518157	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs575256957	chr1:71518189-71518190	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs551211371	chr1:71518217-71518218	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs375106849	chr1:71518230-71518231	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
small cell lung cancer	20016488	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
Cancer	20164920	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71513600-71533600	Weak transcription	Lung	lung
2	chr1:71514000-71525000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:71514000-71527400	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:71514000-71530600	Weak transcription	Ovary	ovary
5	chr1:71514000-71533600	Weak transcription	Pancreas	Pancrea
6	chr1:71514000-71533600	Weak transcription	Right Ventricle	heart
7	chr1:71514200-71518000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:71514200-71518800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:71514200-71524200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:71514200-71533600	Weak transcription	Spleen	Spleen
11	chr1:71514400-71524400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:71515800-71521400	Weak transcription	Adipose Nuclei	Adipose
13	chr1:71515800-71522400	Weak transcription	Liver	Liver
14	chr1:71515800-71522800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:71515800-71523200	Weak transcription	Dnd41	blood
16	chr1:71515800-71524600	Weak transcription	Fetal Brain Female	brain
17	chr1:71515800-71524800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:71515800-71525000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:71515800-71525200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:71515800-71526000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:71515800-71541000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:71516000-71520600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:71516000-71524400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:71516800-71517200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:71516800-71522000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:71517000-71517200	Active TSS	K562	blood
27	chr1:71517000-71522000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:71517000-71522200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:71517000-71522800	Weak transcription	Fetal Thymus	thymus
30	chr1:71517000-71526000	Weak transcription	Thymus	Thymus
31	chr1:71517200-71522600	Weak transcription	Primary T cells from cord blood	blood
32	chr1:71517200-71523200	Weak transcription	K562	blood
33	chr1:71517400-71522000	Weak transcription	Primary B cells from cord blood	blood
34	chr1:71517600-71523000	Weak transcription	Osteobl	bone
35	chr1:71517600-71524400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:71517600-71525000	Weak transcription	NHDF-Ad	bronchial
37	chr1:71518000-71519600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:71518000-71523400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:71518200-71522000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:71518200-71522000	Weak transcription	HMEC	breast
41	chr1:71518200-71523600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr1:71518200-71523800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:71518600-71518800	Enhancers	Brain Hippocampus Middle	brain
44	chr1:71518600-71519000	Enhancers	Brain Substantia Nigra	brain
45	chr1:71518600-71520200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:71518600-71522000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:71518600-71523000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:71518800-71519000	Enhancers	Brain Cingulate Gyrus	brain
49	chr1:71518800-71519400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:71518800-71519600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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