Variant report

Variant	nsv873834
Chromosome Location	chr2:35037733-35138518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:132)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:132 , 50 per page) page: 1 2 3

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	BHLHE40	chr2:35047276-35047302	K562	blood:	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	chr2:35100004-35100077	A549	lung:	n/a	n/a
6	CEBPB	chr2:35080062-35080354	HepG2	liver:	n/a	n/a
7	CHD2	chr2:35056030-35056177	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr2:35133020-35133170	RPTEC	kidney:	n/a	n/a
9	CTCF	chr2:35135280-35135430	HRE	kidney:	n/a	n/a
10	CTCF	chr2:35132980-35133130	HRPEpiC	eye:	n/a	n/a
11	CTCF	chr2:35132920-35133070	BE2_C	brain:	n/a	n/a
12	CTCF	chr2:35132920-35133070	Caco-2	colon:	n/a	n/a
13	CTCF	chr2:35135273-35135306	LNCaP	prostate:	n/a	n/a
14	CTCF	chr2:35133060-35133210	NHEK	skin:	n/a	n/a
15	CTCF	chr2:35117048-35117076	Lung_OC	lung:	n/a	n/a
16	CTCF	chr2:35096420-35096570	HAc	cerebellar:	n/a	n/a
17	CTCF	chr2:35080300-35080370	Lung_OC	lung:	n/a	n/a
18	CTCF	chr2:35105912-35105977	GM10248	blood:	n/a	n/a
19	CTCF	chr2:35132940-35133206	GM12878	blood:	n/a	n/a
20	CTCF	chr2:35132960-35133230	HEEpiC	esophagus:	n/a	n/a
21	CTCF	chr2:35084833-35084876	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr2:35133000-35133150	BE2_C	brain:	n/a	n/a
23	CTCF	chr2:35133140-35133290	MCF-7	breast:	n/a	n/a
24	CTCF	chr2:35133000-35133150	RPTEC	kidney:	n/a	n/a
25	CTCF	chr2:35133000-35133088	GM13977	blood:	n/a	n/a
26	CTCF	chr2:35049467-35049473	GM12878	blood:	n/a	n/a
27	E2F4	chr2:35120144-35120339	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr2:35100372-35100421	GM12878	blood:	n/a	n/a
29	FAM48A	chr2:35069867-35070036	GM12878	blood:	n/a	n/a
30	FOXP2	chr2:35059394-35059820	SK-N-MC	brain:	n/a	n/a
31	GABPA	chr2:35042102-35042390	HepG2	liver:	n/a	n/a
32	GABPA	chr2:35042211-35042414	GM12878	blood:	n/a	n/a
33	GATA3	chr2:35119780-35119906	SH-SY5Y	brain:	n/a	n/a
34	GATA3	chr2:35127471-35127671	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr2:35130627-35130811	SH-SY5Y	brain:	n/a	n/a
36	GATA3	chr2:35038335-35038514	SH-SY5Y	brain:	n/a	n/a
37	IRF4	chr2:35041337-35041907	GM12878	blood:	n/a	n/a
38	IRF4	chr2:35041368-35041871	GM12878	blood:	n/a	n/a
39	JUN	chr2:35122674-35122834	H1-hESC	embryonic stem cell:	n/a	n/a
40	JUND	chr2:35063998-35064222	HepG2	liver:	n/a	n/a
41	JUND	chr2:35041570-35041814	HepG2	liver:	n/a	n/a
42	JUND	chr2:35041595-35041826	HepG2	liver:	n/a	n/a
43	MAFF	chr2:35131035-35131299	HepG2	liver:	n/a	chr2:35131186-35131204
44	MAFF	chr2:35047721-35048030	HepG2	liver:	n/a	n/a
45	MAFF	chr2:35131176-35131199	K562	blood:	n/a	n/a
46	MAFK	chr2:35131058-35131351	HepG2	liver:	n/a	chr2:35131187-35131203 chr2:35131187-35131202 chr2:35131190-35131204 chr2:35131192-35131203 chr2:35131183-35131200 chr2:35131192-35131203
47	MAFK	chr2:35074228-35074307	HepG2	liver:	n/a	n/a
48	MAFK	chr2:35118955-35119070	HepG2	liver:	n/a	n/a
49	MAFK	chr2:35047714-35048032	HepG2	liver:	n/a	chr2:35047926-35047935
50	MAFK	chr2:35047779-35047999	IMR90	lung:	n/a	chr2:35047926-35047935

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:35049634..35051232-chr2:35070862..35073503,2	K562	blood:
2	chr2:35124308..35126436-chr2:35127473..35129610,2	K562	blood:
3	chr2:35130362..35133238-chr2:35148535..35150812,2	K562	blood:
4	chr2:35049634..35051232-chr2:35070862..35073503,2	K562	blood:
5	chr2:35124308..35126436-chr2:35127473..35129610,2	K562	blood:
6	chr2:35086981..35089694-chr2:35094487..35097235,2	K562	blood:
7	chr2:35086981..35089694-chr2:35094487..35097235,2	K562	blood:
8	chr2:35130281..35132812-chr2:35144803..35146892,2	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM98A-11	chr2:35076849-35077075	NONHSAT070061
2	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
3	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
4	lnc-CRIM1-1	chr2:35056430-35056559	XLOC_001425
5	lnc-RASGRP3-5	chr2:35041549-35041945	XLOC_001426
6	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
7	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
8	lnc-FAM98A-11	chr2:35077532-35077593	NONHSAT070061
9	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
10	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
11	lnc-RASGRP3-5	chr2:35042159-35042319	XLOC_001426
12	lnc-FAM98A-11	chr2:35078527-35078731	NONHSAT070061

No data

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

Extended variants
information (count: 3400 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:3400 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1395703	chr2:35037733-35037734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112344784	chr2:35037735-35037736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182997268	chr2:35037751-35037752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138388872	chr2:35037764-35037765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546082776	chr2:35037776-35037777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150325114	chr2:35037782-35037783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188066104	chr2:35037855-35037856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528433976	chr2:35037860-35037861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541651484	chr2:35037871-35037872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561954582	chr2:35037891-35037892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144534939	chr2:35037903-35037904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191606152	chr2:35037914-35037915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370223437	chr2:35037925-35037926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550282755	chr2:35037938-35037939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570079976	chr2:35037952-35037953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532774125	chr2:35037979-35037980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552789912	chr2:35037980-35037981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115773613	chr2:35038035-35038036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374490063	chr2:35038048-35038049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76322423	chr2:35038086-35038087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535844763	chr2:35038090-35038091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371395432	chr2:35038105-35038106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183511422	chr2:35038106-35038107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188855918	chr2:35038107-35038108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537511647	chr2:35038159-35038160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377522459	chr2:35038171-35038172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116054704	chr2:35038182-35038183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577265443	chr2:35038189-35038190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546219126	chr2:35038206-35038207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369602006	chr2:35038222-35038223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192446069	chr2:35038227-35038228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542135918	chr2:35038244-35038245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138472147	chr2:35038253-35038254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561705173	chr2:35038255-35038256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149283024	chr2:35038289-35038290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367927744	chr2:35038293-35038294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563841737	chr2:35038327-35038328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115841999	chr2:35038335-35038336	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs78576171	chr2:35038344-35038345	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs183915705	chr2:35038356-35038357	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs144429279	chr2:35038377-35038378	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs147989806	chr2:35038386-35038387	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs371146516	chr2:35038417-35038418	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs554666701	chr2:35038439-35038440	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs547814096	chr2:35038469-35038470	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs143696213	chr2:35038476-35038477	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs10169451	chr2:35038515-35038516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs147224269	chr2:35038559-35038560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140457207	chr2:35038607-35038608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77220621	chr2:35038623-35038624	Weak transcription	n/a	n/a	Overlapped CNVs	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35029600-35046600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:35035000-35041200	Weak transcription	Pancreas	Pancrea
3	chr2:35035200-35039400	Weak transcription	Gastric	stomach
4	chr2:35036000-35039400	Weak transcription	Stomach Mucosa	stomach
5	chr2:35036000-35039600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:35039400-35039600	Enhancers	Stomach Mucosa	stomach
7	chr2:35039600-35039800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:35039600-35040000	Weak transcription	Stomach Mucosa	stomach
9	chr2:35039800-35040200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:35040000-35040800	Enhancers	Stomach Mucosa	stomach
11	chr2:35040200-35040600	Enhancers	Liver	Liver
12	chr2:35040200-35040800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:35040800-35042400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:35041200-35041400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:35041200-35041400	Enhancers	Gastric	stomach
16	chr2:35041200-35041600	Enhancers	Pancreas	Pancrea
17	chr2:35041400-35044400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:35044400-35044600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:35046600-35047800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:35047800-35056200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:35055800-35056000	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:35056000-35056400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:35056000-35056600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:35056000-35056600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:35056000-35056600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:35056000-35056800	Active TSS	Brain Angular Gyrus	brain
27	chr2:35056000-35056800	Active TSS	Brain Anterior Caudate	brain
28	chr2:35056000-35056800	Active TSS	Brain Cingulate Gyrus	brain
29	chr2:35056000-35056800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:35056000-35057000	Active TSS	Brain Hippocampus Middle	brain
31	chr2:35056000-35057000	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr2:35056000-35057000	Active TSS	Brain Substantia Nigra	brain
33	chr2:35056200-35056400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:35056200-35056600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr2:35056200-35056600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:35056200-35056600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr2:35056200-35056600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:35056200-35056600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:35056200-35056800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:35056200-35056800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr2:35056400-35056600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr2:35057200-35080400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr2:35069200-35069400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr2:35069400-35071600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:35069600-35070400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr2:35069800-35070200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:35070000-35070200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:35070200-35070400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:35070200-35070400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr2:35070200-35071400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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