Variant report

Variant	nsv524038
Chromosome Location	chr2:34990937-35073607
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:107)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:107 , 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	chr2:35042118-35042381	HepG2	liver:	n/a	n/a
3	BHLHE40	chr2:35047276-35047302	K562	blood:	n/a	n/a
4	BHLHE40	chr2:35041520-35041884	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	CHD2	chr2:35056030-35056177	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr2:35028761-35028786	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr2:34994992-34995048	GM20000	blood:	n/a	n/a
10	CTCF	chr2:35008720-35008870	GM12878	blood:	n/a	n/a
11	CTCF	chr2:35049467-35049473	GM12878	blood:	n/a	n/a
12	CTCF	chr2:35031642-35031715	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr2:35028378-35028458	GM13976	blood:	n/a	n/a
14	CTCF	chr2:35007840-35007990	GM12865	blood:	n/a	n/a
15	EBF1	chr2:34997641-34997772	GM12878	blood:	n/a	chr2:34997679-34997688 chr2:34997677-34997690 chr2:34997678-34997689 chr2:34997679-34997689
16	FAM48A	chr2:35069867-35070036	GM12878	blood:	n/a	n/a
17	FOS	chr2:35012557-35012675	MCF10A-Er-Src	breast:	n/a	n/a
18	FOXA2	chr2:35026638-35027075	A549	lung:	n/a	n/a
19	FOXP2	chr2:35059394-35059820	SK-N-MC	brain:	n/a	n/a
20	GABPA	chr2:35042211-35042414	GM12878	blood:	n/a	n/a
21	GABPA	chr2:35042102-35042390	HepG2	liver:	n/a	n/a
22	GATA3	chr2:35038335-35038514	SH-SY5Y	brain:	n/a	n/a
23	IRF4	chr2:35041368-35041871	GM12878	blood:	n/a	n/a
24	IRF4	chr2:35041337-35041907	GM12878	blood:	n/a	n/a
25	JUN	chr2:35013636-35013813	HepG2	liver:	n/a	n/a
26	JUND	chr2:35023816-35023819	H1-hESC	embryonic stem cell:	n/a	n/a
27	JUND	chr2:35063998-35064222	HepG2	liver:	n/a	n/a
28	JUND	chr2:35013606-35013798	HepG2	liver:	n/a	n/a
29	JUND	chr2:35041570-35041814	HepG2	liver:	n/a	n/a
30	JUND	chr2:35041595-35041826	HepG2	liver:	n/a	n/a
31	KAP1	chr2:34998465-34998891	K562	blood:	n/a	n/a
32	MAFF	chr2:35047721-35048030	HepG2	liver:	n/a	n/a
33	MAFK	chr2:35047714-35048032	HepG2	liver:	n/a	chr2:35047926-35047935
34	MAFK	chr2:34994693-34994880	HepG2	liver:	n/a	n/a
35	MAFK	chr2:35047719-35048003	HepG2	liver:	n/a	chr2:35047926-35047935
36	MAFK	chr2:35006007-35006142	HepG2	liver:	n/a	n/a
37	MAFK	chr2:34994608-34994844	HepG2	liver:	n/a	n/a
38	MAFK	chr2:34994715-34994811	IMR90	lung:	n/a	n/a
39	MAFK	chr2:35047779-35047999	IMR90	lung:	n/a	chr2:35047926-35047935
40	MAZ	chr2:35024477-35024522	HepG2	liver:	n/a	n/a
41	MXI1	chr2:35010081-35010094	GM12878	blood:	n/a	n/a
42	MYC	chr2:35056308-35056446	MCF-7	breast:	n/a	n/a
43	MYC	chr2:35051318-35051518	MCF10A-Er-Src	breast:	n/a	chr2:35051387-35051396
44	MYC	chr2:35056332-35056355	H1-hESC	embryonic stem cell:	n/a	n/a
45	MYC	chr2:35013289-35013302	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYC	chr2:35056306-35056307	MCF-7	breast:	n/a	n/a
47	NFIC	chr2:35053482-35053880	ECC-1	luminal epithelium:	n/a	n/a
48	NFYA	chr2:35052849-35052963	GM12878	blood:	n/a	n/a
49	NFYB	chr2:35000024-35000259	GM12878	blood:	n/a	n/a
50	NR3C1	chr2:35041342-35041884	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:35006274..35008792-chr8:67342394..67345182,2	MCF-7	breast:
2	chr2:35049634..35051232-chr2:35070862..35073503,2	K562	blood:
3	chr2:35049634..35051232-chr2:35070862..35073503,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
2	lnc-CRIM1-1	chr2:35056430-35056559	XLOC_001425
3	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
4	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
5	lnc-CRIM1-1	chr2:35024917-35024966	XLOC_001425
6	lnc-FAM98A-10	chr2:35034320-35034623	NONHSAT070053
7	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
8	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
9	lnc-RASGRP3-5	chr2:35041549-35041945	XLOC_001426
10	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
11	lnc-RASGRP3-5	chr2:35042159-35042319	XLOC_001426

No data

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

Extended variants
information (count: 3699 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:3699 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543384231	chr2:34995611-34995612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552816900	chr2:34995666-34995667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563287309	chr2:34995690-34995691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185972953	chr2:34995733-34995734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141489312	chr2:34995736-34995737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116135907	chr2:34995743-34995744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370942003	chr2:34995761-34995762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115075530	chr2:34995803-34995804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548127364	chr2:34995885-34995886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147456214	chr2:34995922-34995923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4128274	chr2:34995934-34995935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs28588881	chr2:34995960-34995961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs114632709	chr2:34995961-34995962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115393361	chr2:34995992-34995993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139076983	chr2:34996002-34996003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116949410	chr2:34996020-34996021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542408908	chr2:34996030-34996031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4128272	chr2:34996034-34996035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181207823	chr2:34996040-34996041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554472130	chr2:34996044-34996045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368629625	chr2:34996045-34996046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574389336	chr2:34996057-34996058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536689181	chr2:34996068-34996069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74359372	chr2:34996099-34996100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186247768	chr2:34996176-34996177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4128273	chr2:34996180-34996181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546942859	chr2:34996228-34996229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553073063	chr2:34996234-34996235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572714119	chr2:34996244-34996245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561057765	chr2:34996284-34996285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74872632	chr2:34996306-34996307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531271486	chr2:34996318-34996319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543461566	chr2:34996383-34996384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561605822	chr2:34996384-34996385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548242734	chr2:34996438-34996439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144078161	chr2:34996494-34996495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561921510	chr2:34996530-34996531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74942178	chr2:34996568-34996569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563722422	chr2:34996608-34996609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532368277	chr2:34996614-34996615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552286330	chr2:34996623-34996624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565813537	chr2:34996628-34996629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529419823	chr2:34996639-34996640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550795708	chr2:34996645-34996646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190620290	chr2:34996654-34996655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564778515	chr2:34996713-34996714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547973309	chr2:34996714-34996715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139849613	chr2:34996725-34996726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183472269	chr2:34996732-34996733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187214642	chr2:34996733-34996734	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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34995600-35001000	Weak transcription	Psoas Muscle	Psoas
2	chr2:35010000-35010400	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr2:35010000-35010400	Enhancers	Brain Substantia Nigra	brain
4	chr2:35010400-35010800	Enhancers	Brain Hippocampus Middle	brain
5	chr2:35010400-35011400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:35011600-35011800	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr2:35011800-35013200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:35013800-35014600	Enhancers	Stomach Mucosa	stomach
9	chr2:35014000-35018000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:35014400-35015000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr2:35014600-35019000	Weak transcription	Stomach Mucosa	stomach
12	chr2:35015000-35015400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:35015200-35016600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr2:35016600-35017400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:35017400-35017800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr2:35017800-35019600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:35018000-35019000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:35019000-35019200	Enhancers	Stomach Mucosa	stomach
19	chr2:35019000-35019600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:35019600-35019800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr2:35019600-35021000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:35019800-35020800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:35020800-35021200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:35020800-35021800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:35021000-35021200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:35021200-35025600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:35021200-35035400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:35024600-35025000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:35025600-35026000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:35025800-35026200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:35029400-35029600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:35029600-35046600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:35031000-35031800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:35031400-35031800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr2:35031400-35032800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:35031400-35032800	Enhancers	NHEK	skin
37	chr2:35031800-35032600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:35032600-35033800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr2:35034800-35035000	Enhancers	Pancreas	Pancrea
40	chr2:35034800-35035200	Enhancers	Gastric	stomach
41	chr2:35035000-35041200	Weak transcription	Pancreas	Pancrea
42	chr2:35035200-35039400	Weak transcription	Gastric	stomach
43	chr2:35035400-35036000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:35035400-35036000	Enhancers	Stomach Mucosa	stomach
45	chr2:35036000-35039400	Weak transcription	Stomach Mucosa	stomach
46	chr2:35036000-35039600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:35039400-35039600	Enhancers	Stomach Mucosa	stomach
48	chr2:35039600-35039800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:35039600-35040000	Weak transcription	Stomach Mucosa	stomach
50	chr2:35039800-35040200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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