Variant report

Variant	nsv1005783
Chromosome Location	chr2:34135968-34340513
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	chr2:34219179-34219275	K562	blood:	n/a	n/a
2	ATF2	chr2:34154420-34154896	GM12878	blood:	n/a	n/a
3	BACH1	chr2:34321987-34322130	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr2:34237938-34237989	K562	blood:	n/a	n/a
5	BHLHE40	chr2:34318851-34319200	GM12878	blood:	n/a	n/a
6	BRCA1	chr2:34321723-34321955	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr2:34192184-34192536	A549	lung:	n/a	chr2:34192365-34192376 chr2:34192346-34192357
8	CEBPB	chr2:34192200-34192503	Hela-S3	cervix:	n/a	chr2:34192365-34192376 chr2:34192346-34192357
9	CEBPB	chr2:34327416-34327754	IMR90	lung:	n/a	n/a
10	CEBPB	chr2:34174501-34174798	MCF-7	breast:	n/a	chr2:34174688-34174699
11	CEBPB	chr2:34195043-34195332	HepG2	liver:	n/a	chr2:34195181-34195192
12	CEBPB	chr2:34192173-34192471	MCF-7	breast:	n/a	chr2:34192365-34192376 chr2:34192346-34192357
13	CEBPB	chr2:34151939-34152080	HepG2	liver:	n/a	chr2:34152019-34152030
14	CEBPB	chr2:34237882-34238165	A549	lung:	n/a	n/a
15	CEBPB	chr2:34195029-34195354	IMR90	lung:	n/a	chr2:34195181-34195192
16	CEBPB	chr2:34217098-34217131	HepG2	liver:	n/a	chr2:34217114-34217125
17	CEBPB	chr2:34327493-34327598	A549	lung:	n/a	n/a
18	CEBPB	chr2:34237654-34238159	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr2:34331805-34332056	A549	lung:	n/a	chr2:34331898-34331909
20	CEBPB	chr2:34292173-34292361	HepG2	liver:	n/a	chr2:34292232-34292243
21	CEBPB	chr2:34282589-34282874	HepG2	liver:	n/a	n/a
22	CEBPB	chr2:34331823-34332032	H1-hESC	embryonic stem cell:	n/a	chr2:34331898-34331909
23	CEBPB	chr2:34192205-34192541	IMR90	lung:	n/a	chr2:34192365-34192376 chr2:34192346-34192357
24	CEBPB	chr2:34178118-34178466	IMR90	lung:	n/a	chr2:34178298-34178309
25	CEBPB	chr2:34192199-34192484	H1-hESC	embryonic stem cell:	n/a	chr2:34192365-34192376 chr2:34192346-34192357
26	CEBPB	chr2:34174561-34174873	HepG2	liver:	n/a	chr2:34174688-34174699
27	CEBPB	chr2:34237819-34238137	HepG2	liver:	n/a	n/a
28	CEBPB	chr2:34237910-34238054	HepG2	liver:	n/a	n/a
29	CEBPB	chr2:34178145-34178467	A549	lung:	n/a	chr2:34178298-34178309
30	CEBPB	chr2:34178133-34178487	HepG2	liver:	n/a	chr2:34178298-34178309
31	CEBPB	chr2:34330050-34330691	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr2:34192195-34192513	A549	lung:	n/a	chr2:34192365-34192376 chr2:34192346-34192357
33	CEBPB	chr2:34153006-34153284	HepG2	liver:	n/a	n/a
34	CEBPB	chr2:34195079-34195308	K562	blood:	n/a	chr2:34195181-34195192
35	CEBPB	chr2:34225449-34225592	HepG2	liver:	n/a	n/a
36	CEBPB	chr2:34152960-34153250	A549	lung:	n/a	n/a
37	CEBPB	chr2:34282612-34282876	A549	lung:	n/a	n/a
38	CEBPB	chr2:34147478-34147805	HepG2	liver:	n/a	chr2:34147619-34147630
39	CEBPB	chr2:34315236-34315504	HepG2	liver:	n/a	chr2:34315355-34315366
40	CEBPB	chr2:34331718-34332056	HepG2	liver:	n/a	chr2:34331898-34331909
41	CEBPB	chr2:34242505-34242705	HepG2	liver:	n/a	n/a
42	CEBPB	chr2:34192212-34192497	A549	lung:	n/a	chr2:34192365-34192376 chr2:34192346-34192357
43	CEBPB	chr2:34194477-34194615	A549	lung:	n/a	n/a
44	CEBPB	chr2:34331757-34332067	IMR90	lung:	n/a	chr2:34331898-34331909
45	CEBPB	chr2:34195103-34195289	H1-hESC	embryonic stem cell:	n/a	chr2:34195181-34195192
46	CEBPB	chr2:34192186-34192539	K562	blood:	n/a	chr2:34192365-34192376 chr2:34192346-34192357
47	CEBPB	chr2:34329961-34330780	IMR90	lung:	n/a	n/a
48	CEBPB	chr2:34195099-34195306	A549	lung:	n/a	chr2:34195181-34195192
49	CEBPB	chr2:34192184-34192548	HepG2	liver:	n/a	chr2:34192365-34192376 chr2:34192346-34192357
50	CHD2	chr2:34237878-34238102	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:34324491..34327338-chr2:34327561..34329321,2	MCF-7	breast:
2	chr2:34321239..34322372-chr2:34772370..34773083,4	MCF-7	breast:
3	chr2:34253322..34256129-chr2:34261257..34263423,2	K562	blood:
4	chr2:34237421..34238380-chr2:35339556..35340362,2	MCF-7	breast:
5	chr14:20811148..20811932-chr2:34244925..34245925,2	MCF-7	breast:
6	chr2:34237451..34238372-chr2:34321266..34322187,3	MCF-7	breast:
7	chr2:34160770..34163344-chr2:34168919..34171059,2	K562	blood:
8	chr2:34237581..34238416-chr2:34963443..34964247,2	MCF-7	breast:
9	chr10:124597456..124597958-chr2:34237773..34238411,2	MCF-7	breast:
10	chr2:34334993..34337694-chr2:34340157..34342643,2	K562	blood:
11	chr2:34324491..34327338-chr2:34327561..34329321,2	MCF-7	breast:
12	chr2:33906087..33906631-chr2:34321375..34322022,2	MCF-7	breast:
13	chr14:20810431..20812269-chr2:34245445..34246945,2	MCF-7	breast:
14	chr2:34237451..34238372-chr2:34321266..34322187,3	MCF-7	breast:
15	chr2:34334993..34337694-chr2:34340157..34342643,2	K562	blood:
16	chr2:34237506..34238447-chr2:34795265..34796658,5	MCF-7	breast:
17	chr2:34253322..34256129-chr2:34261257..34263423,2	K562	blood:
18	chr2:34237681..34238401-chr2:34795339..34796232,5	MCF-7	breast:
19	chr2:34321381..34322557-chr2:34795669..34796275,5	MCF-7	breast:
20	chr2:34160770..34163344-chr2:34168919..34171059,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-2	chr2:34292293-34292370	XLOC_001422
2	lnc-RASGRP3-1	chr2:34169495-34169620	ENSG00000203386
3	lnc-RASGRP3-12	chr2:34145797-34145874	NONHSAT070029
4	lnc-RASGRP3-1	chr2:34151907-34152035	ENSG00000203386
5	lnc-RASGRP3-2	chr2:34288818-34293939	NONHSAT070031
6	lnc-RASGRP3-12	chr2:34147670-34148121	NONHSAT070029
7	lnc-RASGRP3-1	chr2:34169495-34169620	ENSG00000203386
8	lnc-RASGRP3-2	chr2:34284362-34284586	NONHSAT070031
9	lnc-RASGRP3-2	chr2:34293281-34293347	XLOC_001422
10	lnc-RASGRP3-12	chr2:34146785-34146851	NONHSAT070029
11	lnc-RASGRP3-1	chr2:34286086-34286114	ENSG00000203386
12	lnc-RASGRP3-2	chr2:34294166-34294617	XLOC_001422
13	lnc-RASGRP3-1	chr2:34285817-34285994	ENSG00000203386
14	lnc-RASGRP3-1	chr2:34151907-34152035	ENSG00000203386

Variant related genes	Relation type
ENSG00000266861	TF binding region
ENSG00000237790	TF binding region
ENSG00000138161	chromatin interactions
ENSG00000129484	chromatin interactions
ENSG00000259001	chromatin interactions

Extended variants
information (count: 2413 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2413 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538267676	chr2:34141207-34141208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558082877	chr2:34141227-34141228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572016985	chr2:34141268-34141269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574607995	chr2:34141305-34141306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534642713	chr2:34141306-34141307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150518065	chr2:34141339-34141340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139451426	chr2:34141344-34141345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144354507	chr2:34141358-34141359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535375135	chr2:34141369-34141370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147795012	chr2:34141388-34141389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139511529	chr2:34141391-34141392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545425063	chr2:34141402-34141403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189227643	chr2:34141406-34141407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180777222	chr2:34141414-34141415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527682345	chr2:34141431-34141432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545403663	chr2:34141456-34141457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563803299	chr2:34141483-34141484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2666303	chr2:34141486-34141487	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183562283	chr2:34141487-34141488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116549147	chr2:34141511-34141512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145257171	chr2:34141528-34141529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs57866203	chr2:34141529-34141530	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538306081	chr2:34141548-34141549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188683917	chr2:34141578-34141579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565384829	chr2:34141585-34141586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534298576	chr2:34141586-34141587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181166503	chr2:34141601-34141602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375437113	chr2:34141619-34141620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574641059	chr2:34141634-34141635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149121021	chr2:34141658-34141659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557074362	chr2:34141662-34141663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7600684	chr2:34141705-34141706	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs550989990	chr2:34141762-34141763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113742157	chr2:34141763-34141764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572504617	chr2:34141809-34141810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76815509	chr2:34141814-34141815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561441985	chr2:34141882-34141883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533136958	chr2:34141920-34141921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530371791	chr2:34141969-34141970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191653215	chr2:34141991-34141992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6543775	chr2:34142002-34142003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs551818411	chr2:34142021-34142022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374212658	chr2:34142106-34142107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552137046	chr2:34142112-34142113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551881998	chr2:34142130-34142131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565421980	chr2:34142133-34142134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141210483	chr2:34142163-34142164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13387577	chr2:34142182-34142183	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568269423	chr2:34142191-34142192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs13387586	chr2:34142201-34142202	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34141200-34143200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr2:34142400-34142800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:34149800-34150200	Enhancers	Fetal Kidney	kidney
4	chr2:34154400-34155200	Enhancers	GM12878-XiMat	blood
5	chr2:34183600-34184200	Enhancers	Fetal Brain Female	brain
6	chr2:34208600-34209200	Enhancers	Fetal Brain Male	brain
7	chr2:34212400-34212800	Enhancers	Placenta	Placenta
8	chr2:34222400-34222600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:34222600-34223000	ZNF genes & repeats	Pancreas	Pancrea
10	chr2:34228200-34228600	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:34228600-34229000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:34228800-34229000	Enhancers	Brain Germinal Matrix	brain
13	chr2:34228800-34229000	Enhancers	Brain Hippocampus Middle	brain
14	chr2:34228800-34229000	Enhancers	Brain Substantia Nigra	brain
15	chr2:34228800-34229200	Enhancers	Brain Anterior Caudate	brain
16	chr2:34229000-34229200	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:34229000-34229600	Weak transcription	Brain Substantia Nigra	brain
18	chr2:34229000-34230200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:34229000-34231400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:34229200-34229800	Weak transcription	Brain Anterior Caudate	brain
21	chr2:34229200-34230000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:34229600-34231400	Enhancers	Brain Substantia Nigra	brain
23	chr2:34229800-34230000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:34229800-34230000	Active TSS	Brain Hippocampus Middle	brain
25	chr2:34229800-34230400	Active TSS	Brain Angular Gyrus	brain
26	chr2:34229800-34230400	Active TSS	Brain Anterior Caudate	brain
27	chr2:34229800-34230400	Active TSS	Brain Germinal Matrix	brain
28	chr2:34229800-34231400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:34230000-34230200	Active TSS	Brain Cingulate Gyrus	brain
30	chr2:34230000-34230400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:34230000-34230400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:34230000-34230400	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr2:34230000-34230400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:34230200-34230400	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr2:34230200-34230600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr2:34230400-34230600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:34230400-34231000	Enhancers	Brain Anterior Caudate	brain
38	chr2:34230400-34231200	Enhancers	Brain Angular Gyrus	brain
39	chr2:34230400-34231200	Enhancers	Brain Germinal Matrix	brain
40	chr2:34230400-34231400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:34230400-34231400	Enhancers	Brain Cingulate Gyrus	brain
42	chr2:34230400-34231600	Enhancers	Brain Hippocampus Middle	brain
43	chr2:34230600-34231200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:34236800-34237800	Enhancers	Fetal Lung	lung
45	chr2:34237400-34237800	Enhancers	Brain Hippocampus Middle	brain
46	chr2:34237400-34237800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr2:34237400-34238200	Enhancers	Fetal Stomach	stomach
48	chr2:34237600-34238200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:34237600-34238200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:34237600-34238200	Enhancers	Brain Anterior Caudate	brain

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