Variant report

Variant	nsv873830
Chromosome Location	chr2:34972791-35047107
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	chr2:35041098-35041398	K562	blood:	n/a	n/a
2	BACH1	chr2:34989249-34989315	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr2:35041520-35041884	HepG2	liver:	n/a	n/a
4	BHLHE40	chr2:35042118-35042381	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:35010577-35010790	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:35003237-35003348	HepG2	liver:	n/a	n/a
7	CTCF	chr2:34994992-34995048	GM20000	blood:	n/a	n/a
8	CTCF	chr2:35028378-35028458	GM13976	blood:	n/a	n/a
9	CTCF	chr2:35007840-35007990	GM12865	blood:	n/a	n/a
10	CTCF	chr2:35008720-35008870	GM12878	blood:	n/a	n/a
11	CTCF	chr2:35028761-35028786	Kidney_OC	kidney:	n/a	n/a
12	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
13	CTCF	chr2:35031642-35031715	Kidney_OC	kidney:	n/a	n/a
14	EBF1	chr2:34997641-34997772	GM12878	blood:	n/a	chr2:34997679-34997688 chr2:34997677-34997690 chr2:34997678-34997689 chr2:34997679-34997689
15	FOS	chr2:34985916-34986221	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr2:35012557-35012675	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr2:34985902-34986247	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr2:34985942-34986248	MCF10A-Er-Src	breast:	n/a	n/a
19	FOXA2	chr2:35026638-35027075	A549	lung:	n/a	n/a
20	GABPA	chr2:35042102-35042390	HepG2	liver:	n/a	n/a
21	GABPA	chr2:35042211-35042414	GM12878	blood:	n/a	n/a
22	GATA3	chr2:35038335-35038514	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chr2:34989024-34989191	SH-SY5Y	brain:	n/a	n/a
24	IRF4	chr2:35041337-35041907	GM12878	blood:	n/a	n/a
25	IRF4	chr2:35041368-35041871	GM12878	blood:	n/a	n/a
26	JUN	chr2:35013636-35013813	HepG2	liver:	n/a	n/a
27	JUN	chr2:34989366-34989459	HepG2	liver:	n/a	n/a
28	JUND	chr2:35041595-35041826	HepG2	liver:	n/a	n/a
29	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
30	JUND	chr2:35013606-35013798	HepG2	liver:	n/a	n/a
31	JUND	chr2:35023816-35023819	H1-hESC	embryonic stem cell:	n/a	n/a
32	JUND	chr2:35041570-35041814	HepG2	liver:	n/a	n/a
33	KAP1	chr2:34998465-34998891	K562	blood:	n/a	n/a
34	MAFK	chr2:34994715-34994811	IMR90	lung:	n/a	n/a
35	MAFK	chr2:35006007-35006142	HepG2	liver:	n/a	n/a
36	MAFK	chr2:34994693-34994880	HepG2	liver:	n/a	n/a
37	MAFK	chr2:34979387-34979453	HepG2	liver:	n/a	chr2:34979396-34979411
38	MAFK	chr2:34979282-34979436	HepG2	liver:	n/a	chr2:34979396-34979411
39	MAFK	chr2:34994608-34994844	HepG2	liver:	n/a	n/a
40	MAZ	chr2:35024477-35024522	HepG2	liver:	n/a	n/a
41	MXI1	chr2:35010081-35010094	GM12878	blood:	n/a	n/a
42	MYC	chr2:35013289-35013302	H1-hESC	embryonic stem cell:	n/a	n/a
43	NFYB	chr2:35000024-35000259	GM12878	blood:	n/a	n/a
44	NR3C1	chr2:35041342-35041884	A549	lung:	n/a	n/a
45	NR3C1	chr2:35041451-35041854	A549	lung:	n/a	n/a
46	NRF1	chr2:35040479-35040525	H1-hESC	embryonic stem cell:	n/a	n/a
47	PAX5	chr2:35041828-35042232	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:35008601-35008917	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr2:35012198-35012384	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr2:35042030-35042150	ProgFib	skin:	n/a	n/a

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-CRIM1-1	chr2:35024917-35024966	XLOC_001425
2	lnc-RASGRP3-4	chr2:34978401-34978447	NONHSAT070051
3	lnc-RASGRP3-5	chr2:35042159-35042319	XLOC_001426
4	lnc-RASGRP3-5	chr2:35041549-35041945	XLOC_001426
5	lnc-FAM98A-10	chr2:35034320-35034623	NONHSAT070053

Variant related genes	Relation type
ENSG00000226994	TF binding region
RN7SL602P	TF binding region
ENSG00000147576	chromatin interactions
NAP1L1	miRNA target sites

Extended variants
information (count: 2453 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2453 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569304514	chr2:34978407-34978408	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs552699259	chr2:34978425-34978426	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs57506098	chr2:34978440-34978441	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs79397236	chr2:34979800-34979801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528661232	chr2:34979832-34979833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569639440	chr2:34979834-34979835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3115240	chr2:34979917-34979918	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576394230	chr2:34979948-34979949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145908926	chr2:34979957-34979958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138401470	chr2:34980044-34980045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534158980	chr2:34980049-34980050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7603127	chr2:34980068-34980069	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574300129	chr2:34980078-34980079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78375943	chr2:34980100-34980101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78564410	chr2:34980120-34980121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562006309	chr2:34980143-34980144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192719944	chr2:34980144-34980145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529276904	chr2:34980174-34980175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184144313	chr2:34980179-34980180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545386653	chr2:34980180-34980181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114030426	chr2:34980196-34980197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112273851	chr2:34980288-34980289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541272206	chr2:34980307-34980308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561051605	chr2:34980308-34980309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529807716	chr2:34980317-34980318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550049961	chr2:34980324-34980325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546469394	chr2:34980336-34980337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569825671	chr2:34980337-34980338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141952214	chr2:34980339-34980340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551741589	chr2:34980354-34980355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187074356	chr2:34980355-34980356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550925765	chr2:34980375-34980376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543384231	chr2:34995611-34995612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552816900	chr2:34995666-34995667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563287309	chr2:34995690-34995691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185972953	chr2:34995733-34995734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141489312	chr2:34995736-34995737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116135907	chr2:34995743-34995744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370942003	chr2:34995761-34995762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115075530	chr2:34995803-34995804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548127364	chr2:34995885-34995886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147456214	chr2:34995922-34995923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4128274	chr2:34995934-34995935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs28588881	chr2:34995960-34995961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114632709	chr2:34995961-34995962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115393361	chr2:34995992-34995993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139076983	chr2:34996002-34996003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116949410	chr2:34996020-34996021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542408908	chr2:34996030-34996031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4128272	chr2:34996034-34996035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34979800-34980400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:34995600-35001000	Weak transcription	Psoas Muscle	Psoas
3	chr2:35010000-35010400	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr2:35010000-35010400	Enhancers	Brain Substantia Nigra	brain
5	chr2:35010400-35010800	Enhancers	Brain Hippocampus Middle	brain
6	chr2:35010400-35011400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:35011600-35011800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:35011800-35013200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:35013800-35014600	Enhancers	Stomach Mucosa	stomach
10	chr2:35014000-35018000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:35014400-35015000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr2:35014600-35019000	Weak transcription	Stomach Mucosa	stomach
13	chr2:35015000-35015400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:35015200-35016600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr2:35016600-35017400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:35017400-35017800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr2:35017800-35019600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:35018000-35019000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:35019000-35019200	Enhancers	Stomach Mucosa	stomach
20	chr2:35019000-35019600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:35019600-35019800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr2:35019600-35021000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:35019800-35020800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:35020800-35021200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:35020800-35021800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:35021000-35021200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:35021200-35025600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:35021200-35035400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:35024600-35025000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:35025600-35026000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:35025800-35026200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:35029400-35029600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:35029600-35046600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:35031000-35031800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:35031400-35031800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr2:35031400-35032800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:35031400-35032800	Enhancers	NHEK	skin
38	chr2:35031800-35032600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:35032600-35033800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:35034800-35035000	Enhancers	Pancreas	Pancrea
41	chr2:35034800-35035200	Enhancers	Gastric	stomach
42	chr2:35035000-35041200	Weak transcription	Pancreas	Pancrea
43	chr2:35035200-35039400	Weak transcription	Gastric	stomach
44	chr2:35035400-35036000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:35035400-35036000	Enhancers	Stomach Mucosa	stomach
46	chr2:35036000-35039400	Weak transcription	Stomach Mucosa	stomach
47	chr2:35036000-35039600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:35039400-35039600	Enhancers	Stomach Mucosa	stomach
49	chr2:35039600-35039800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:35039600-35040000	Weak transcription	Stomach Mucosa	stomach

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