Variant report

Variant	nsv581384
Chromosome Location	chr2:34965789-35013851
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	BACH1	chr2:34989249-34989315	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr2:35003237-35003348	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:35010577-35010790	HepG2	liver:	n/a	n/a
4	CTCF	chr2:34994992-34995048	GM20000	blood:	n/a	n/a
5	CTCF	chr2:35008720-35008870	GM12878	blood:	n/a	n/a
6	CTCF	chr2:35007840-35007990	GM12865	blood:	n/a	n/a
7	CTCF	chr2:34978760-34978910	WERI-Rb-1	eye:	n/a	chr2:34978801-34978809 chr2:34978798-34978819 chr2:34978797-34978813 chr2:34978799-34978812 chr2:34978796-34978814
8	EBF1	chr2:34997641-34997772	GM12878	blood:	n/a	chr2:34997679-34997688 chr2:34997677-34997690 chr2:34997678-34997689 chr2:34997679-34997689
9	EP300	chr2:34969829-34969834	GM12878	blood:	n/a	n/a
10	FOS	chr2:34985902-34986247	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr2:34972236-34972391	MCF10A-Er-Src	breast:	n/a	chr2:34972297-34972306 chr2:34972314-34972323 chr2:34972315-34972323 chr2:34972314-34972324 chr2:34972313-34972325 chr2:34972315-34972322
12	FOS	chr2:35012557-35012675	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr2:34972282-34972356	MCF10A-Er-Src	breast:	n/a	chr2:34972297-34972306 chr2:34972314-34972323 chr2:34972315-34972323 chr2:34972314-34972324 chr2:34972313-34972325 chr2:34972315-34972322
14	FOS	chr2:34985916-34986221	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr2:34985942-34986248	MCF10A-Er-Src	breast:	n/a	n/a
16	GATA3	chr2:34989024-34989191	SH-SY5Y	brain:	n/a	n/a
17	JUN	chr2:34989366-34989459	HepG2	liver:	n/a	n/a
18	JUN	chr2:35013636-35013813	HepG2	liver:	n/a	n/a
19	JUN	chr2:34972166-34972450	HepG2	liver:	n/a	chr2:34972297-34972306 chr2:34972346-34972359 chr2:34972314-34972323 chr2:34972315-34972323 chr2:34972314-34972324 chr2:34972293-34972306 chr2:34972313-34972325 chr2:34972315-34972322
20	JUND	chr2:34987298-34987466	HepG2	liver:	n/a	chr2:34987353-34987362 chr2:34987353-34987363 chr2:34987354-34987363 chr2:34987352-34987364 chr2:34987355-34987362 chr2:34987352-34987363
21	JUND	chr2:34972137-34972473	HepG2	liver:	n/a	chr2:34972297-34972306 chr2:34972313-34972324 chr2:34972314-34972323 chr2:34972315-34972323 chr2:34972314-34972324 chr2:34972313-34972325 chr2:34972315-34972322
22	JUND	chr2:35013606-35013798	HepG2	liver:	n/a	n/a
23	KAP1	chr2:34998465-34998891	K562	blood:	n/a	n/a
24	MAFF	chr2:34972184-34972324	K562	blood:	n/a	chr2:34972306-34972324
25	MAFF	chr2:34972175-34972421	HepG2	liver:	n/a	chr2:34972306-34972324
26	MAFK	chr2:34979282-34979436	HepG2	liver:	n/a	chr2:34979396-34979411
27	MAFK	chr2:34994715-34994811	IMR90	lung:	n/a	n/a
28	MAFK	chr2:34979387-34979453	HepG2	liver:	n/a	chr2:34979396-34979411
29	MAFK	chr2:34972184-34972442	HepG2	liver:	n/a	chr2:34972313-34972322
30	MAFK	chr2:34994693-34994880	HepG2	liver:	n/a	n/a
31	MAFK	chr2:34994608-34994844	HepG2	liver:	n/a	n/a
32	MAFK	chr2:35006007-35006142	HepG2	liver:	n/a	n/a
33	MAX	chr2:34971528-34971549	GM12878	blood:	n/a	n/a
34	MXI1	chr2:35010081-35010094	GM12878	blood:	n/a	n/a
35	MYC	chr2:35013289-35013302	H1-hESC	embryonic stem cell:	n/a	n/a
36	NFYB	chr2:35000024-35000259	GM12878	blood:	n/a	n/a
37	POLR2A	chr2:35008601-35008917	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr2:35004797-35004858	A549	lung:	n/a	n/a
39	POLR2A	chr2:35008273-35008287	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr2:34986942-34987049	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr2:34976682-34977036	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr2:35012198-35012384	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr2:35008086-35008610	H1-neurons	neurons:	n/a	n/a
44	POLR2A	chr2:34979220-34979368	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr2:34971843-34971991	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr2:35008138-35008572	H1-neurons	neurons:	n/a	n/a
47	REST	chr2:35008114-35008737	H1-neurons	neurons:	n/a	n/a
48	SRF	chr2:34996964-34997064	GM12878	blood:	n/a	n/a
49	STAT3	chr2:34998002-34998305	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr2:34985889-34986164	MCF10A-Er-Src	breast:	n/a	chr2:34985953-34985961

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:35006274..35008792-chr8:67342394..67345182,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-4	chr2:34978401-34978447	NONHSAT070051

Variant related genes	Relation type
ENSG00000232153	TF binding region
ENSG00000147576	chromatin interactions

Extended variants
information (count: 703 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:703 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562403151	chr2:34965791-34965792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537779137	chr2:34965833-34965834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138610932	chr2:34965837-34965838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577587129	chr2:34965848-34965849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546237501	chr2:34965868-34965869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559686039	chr2:34965877-34965878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113459734	chr2:34965922-34965923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369852607	chr2:34965928-34965929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542306280	chr2:34965971-34965972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184443962	chr2:34965980-34965981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13028493	chr2:34965984-34965985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530628168	chr2:34966010-34966011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3108094	chr2:34966016-34966017	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs189929717	chr2:34966045-34966046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78929720	chr2:34966046-34966047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533022505	chr2:34966062-34966063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546313502	chr2:34966090-34966091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566438785	chr2:34966101-34966102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532963366	chr2:34966155-34966156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34792292	chr2:34966214-34966215	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs79991355	chr2:34966215-34966216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182568680	chr2:34966227-34966228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185544176	chr2:34966229-34966230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190448556	chr2:34966259-34966260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571199637	chr2:34966267-34966268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180892771	chr2:34966328-34966329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553139958	chr2:34966343-34966344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573181217	chr2:34966352-34966353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541819736	chr2:34966356-34966357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555375145	chr2:34966358-34966359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555835516	chr2:34966359-34966360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567142496	chr2:34966361-34966362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575305638	chr2:34966395-34966396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76712503	chr2:34966407-34966408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185176262	chr2:34966415-34966416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73928623	chr2:34966419-34966420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539086142	chr2:34966446-34966447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540514440	chr2:34966457-34966458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78845754	chr2:34966469-34966470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528888644	chr2:34966503-34966504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375706524	chr2:34966550-34966551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34988189	chr2:34966567-34966568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34244186	chr2:34966569-34966570	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2371495	chr2:34966574-34966575	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs190327995	chr2:34966590-34966591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181182251	chr2:34966605-34966606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571056656	chr2:34966652-34966653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142428469	chr2:34966722-34966723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367691951	chr2:34966724-34966725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567006807	chr2:34966734-34966735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34961400-34967400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:34961600-34966000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:34966000-34966600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:34967400-34968000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:34968600-34968800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:34979800-34980400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:34995600-35001000	Weak transcription	Psoas Muscle	Psoas
8	chr2:35010000-35010400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr2:35010000-35010400	Enhancers	Brain Substantia Nigra	brain
10	chr2:35010400-35010800	Enhancers	Brain Hippocampus Middle	brain
11	chr2:35010400-35011400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:35011600-35011800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:35011800-35013200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:35013800-35014600	Enhancers	Stomach Mucosa	stomach

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