Variant report

Variant	nsv582008
Chromosome Location	chr2:53687730-53706903
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:348)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr2:53702397-53703247	Hela-S3	cervix:	n/a	n/a
2	BRCA1	chr2:53703941-53704510	Hela-S3	cervix:	n/a	n/a
3	CBX3	chr2:53703850-53704480	HCT-116	colon:	n/a	n/a
4	CBX3	chr2:53701938-53703325	HCT-116	colon:	n/a	n/a
5	CBX3	chr2:53702123-53703068	HCT-116	colon:	n/a	n/a
6	CEBPB	chr2:53701031-53701420	Hela-S3	cervix:	n/a	chr2:53701315-53701327
7	CEBPB	chr2:53687630-53687871	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr2:53702263-53703112	HCT-116	colon:	n/a	chr2:53703002-53703019
9	CEBPB	chr2:53703905-53704648	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr2:53702175-53703286	Hela-S3	cervix:	n/a	chr2:53703002-53703019
11	CEBPB	chr2:53702219-53703198	HCT-116	colon:	n/a	chr2:53703002-53703019
12	CEBPB	chr2:53700457-53700739	Hela-S3	cervix:	n/a	n/a
13	CHD1	chr2:53696089-53696141	GM12878	blood:	n/a	n/a
14	CHD2	chr2:53703925-53704545	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr2:53700516-53700716	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr2:53702154-53703199	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr2:53700490-53700688	GM12892	blood:	n/a	n/a
18	CTCF	chr2:53700505-53700675	GM12891	blood:	n/a	n/a
19	CTCF	chr2:53700482-53700703	A549	lung:	n/a	n/a
20	CTCF	chr2:53700520-53700670	K562	blood:	n/a	n/a
21	CTCF	chr2:53700520-53700670	NB4	blood:	n/a	n/a
22	CTCF	chr2:53700469-53700725	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr2:53700472-53700700	Fibrobl	skin:	n/a	n/a
24	CTCF	chr2:53700560-53700710	A549	lung:	n/a	n/a
25	CTCF	chr2:53687600-53687750	HCT-116	colon:	n/a	chr2:53687623-53687631
26	CTCF	chr2:53700500-53700650	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr2:53700540-53700690	HMF	breast:	n/a	n/a
28	CTCF	chr2:53687536-53687749	MCF-7	breast:	n/a	chr2:53687623-53687631
29	CTCF	chr2:53700520-53700670	AG09319	gingival:	n/a	n/a
30	CTCF	chr2:53700485-53700707	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chr2:53687413-53687846	MCF-7	breast:	n/a	chr2:53687623-53687631
32	CTCF	chr2:53700560-53700710	AoAF	blood vessel:	n/a	n/a
33	CTCF	chr2:53700480-53700630	NHEK	skin:	n/a	n/a
34	CTCF	chr2:53700560-53700710	HPAF	blood vessel:	n/a	n/a
35	CTCF	chr2:53700540-53700690	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr2:53687486-53687765	Gliobla	brain:	n/a	chr2:53687623-53687631
37	CTCF	chr2:53700439-53700672	HepG2	liver:	n/a	n/a
38	CTCF	chr2:53700580-53700730	HL-60	blood:	n/a	n/a
39	CTCF	chr2:53700560-53700710	GM12871	blood:	n/a	n/a
40	CTCF	chr2:53700540-53700690	GM12868	blood:	n/a	n/a
41	CTCF	chr2:53700560-53700710	MCF-7	breast:	n/a	n/a
42	CTCF	chr2:53700523-53700661	LNCaP	prostate:	n/a	n/a
43	CTCF	chr2:53700502-53700686	ProgFib	skin:	n/a	n/a
44	CTCF	chr2:53700540-53700690	HEK293	kidney:	n/a	n/a
45	CTCF	chr2:53687580-53687730	HEK293	kidney:	n/a	chr2:53687623-53687631
46	CTCF	chr2:53700454-53700715	MCF-7	breast:	n/a	n/a
47	CTCF	chr2:53700465-53700703	HepG2	liver:	n/a	n/a
48	CTCF	chr2:53700500-53700650	AoAF	blood vessel:	n/a	n/a
49	CTCF	chr2:53700520-53700670	RPTEC	kidney:	n/a	n/a
50	CTCF	chr2:53700520-53700670	GM12865	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:53701531-53701581	HRPEpiC	eye:	n/a
2	chr2:53701531-53701581	GM19239	blood:	n/a
3	chr2:53701531-53701581	K562	blood:	n/a
4	chr2:53701531-53701581	HL-60	blood:	n/a
5	chr2:53701531-53701581	GM12891	blood:	n/a
6	chr2:53701531-53701581	NHDF-neo	bronchial:	n/a
7	chr2:53701531-53701581	PFSK-1	brain:	n/a
8	chr2:53701531-53701581	CMK	blood:	n/a
9	chr2:53701531-53701581	MCF-7	breast:	n/a
10	chr2:53701531-53701581	SK-N-SH_RA	brain:	n/a
11	chr2:53701531-53701581	HCPEpiC	choroid plexus:	n/a
12	chr2:53701531-53701581	NB4	blood:	n/a
13	chr2:53701531-53701581	ProgFib	skin:	n/a
14	chr2:53701531-53701581	PANC-1	pancreas:	n/a
15	chr2:53701531-53701581	GM12892	blood:	n/a
16	chr2:53701531-53701581	AG09309	skin:	n/a
17	chr2:53701531-53701581	ECC-1	luminal epithelium:	n/a
18	chr2:53701531-53701581	Hela-S3	cervix:	n/a
19	chr2:53701531-53701581	HEK293	kidney:	embryo
20	chr2:53701531-53701581	HepG2	liver:	n/a
21	chr2:53701531-53701581	HEEpiC	esophagus:	n/a
22	chr2:53701531-53701581	ovcar-3	ovarian:	n/a
23	chr2:53701531-53701581	NHBE	bronchial:	n/a
24	chr2:53701531-53701581	HAEpiC	amniotic membrane:	n/a
25	chr2:53701531-53701581	MCF10A-Er-Src	breast:	n/a
26	chr2:53701531-53701581	AG10803	skin:	n/a
27	chr2:53701531-53701581	RPTEC	kidney:	n/a
28	chr2:53701531-53701581	LNCaP	prostate:	n/a
29	chr2:53701531-53701581	HPAEpiC	pulmonary alveolar:	n/a
30	chr2:53701531-53701581	HRCEpiC	kidney:	n/a
31	chr2:53701531-53701581	A549	lung:	n/a
32	chr2:53701531-53701581	H1-hESC	embryonic stem cell:	embryo
33	chr2:53701531-53701581	SKMC	muscle:	n/a
34	chr2:53701531-53701581	HMEC	breast:	n/a
35	chr2:53701531-53701581	SAEC	small airway:	n/a
36	chr2:53701531-53701581	T-47D	breast:	n/a
37	chr2:53701531-53701581	HIPEpiC	eye:	n/a
38	chr2:53701531-53701581	HRE	kidney:	n/a
39	chr2:53701531-53701581	BE2_C	brain:	n/a
40	chr2:53701531-53701581	Jurkat	blood:	n/a
41	chr2:53701531-53701581	SK-N-SH	brain:	n/a
42	chr2:53701531-53701581	Hepatocyte	liver:	n/a
43	chr2:53701531-53701581	NT2-D1	testis:	n/a
44	chr2:53701531-53701581	Caco-2	colon:	n/a
45	chr2:53701531-53701581	AG09319	gingival:	n/a
46	chr2:53701531-53701581	GM06990	blood:	n/a
47	chr2:53701531-53701581	HCM	heart:	n/a
48	chr2:53701531-53701581	HCT-116	colon:	n/a
49	chr2:53701531-53701581	HCF	heart:	n/a
50	chr2:53701531-53701581	AoSMC	blood vessel:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:53115077..53117448-chr2:53686034..53688851,2	MCF-7	breast:
2	chr2:53687502..53690121-chr2:53692072..53694054,2	K562	blood:
3	chr2:53203292..53203812-chr2:53700344..53701275,2	MCF-7	breast:
4	chr2:53687389..53688064-chr2:53942616..53943230,2	MCF-7	breast:
5	chr2:53691365..53693137-chr2:53701304..53703137,2	MCF-7	breast:
6	chr2:53687502..53690121-chr2:53692072..53694054,2	K562	blood:
7	chr2:53691365..53693137-chr2:53701304..53703137,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251942	TF binding region
ENSG00000251942	CpG island

Extended variants
information (count: 645 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1402901	chr2:53687730-53687731	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs568684636	chr2:53687742-53687743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530903756	chr2:53687768-53687769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184139550	chr2:53687862-53687863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370135184	chr2:53687868-53687869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540459723	chr2:53687881-53687882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189468332	chr2:53687897-53687898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553536799	chr2:53687919-53687920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12613505	chr2:53687924-53687925	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs12619813	chr2:53687951-53687952	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs142421653	chr2:53687957-53687958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574653301	chr2:53688008-53688009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193033797	chr2:53688052-53688053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72908932	chr2:53688053-53688054	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs6733719	chr2:53688071-53688072	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs75526315	chr2:53688076-53688077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559052397	chr2:53688094-53688095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145975815	chr2:53688095-53688096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184823214	chr2:53688116-53688117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117688546	chr2:53688125-53688126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531106143	chr2:53688148-53688149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374359027	chr2:53688156-53688157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551295021	chr2:53688165-53688166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535025420	chr2:53688175-53688176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530846602	chr2:53688198-53688199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368253309	chr2:53688211-53688212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188858411	chr2:53688217-53688218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6705121	chr2:53688258-53688259	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs112095587	chr2:53688279-53688280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138715221	chr2:53688282-53688283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372350290	chr2:53688283-53688284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201626245	chr2:53688292-53688293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200254778	chr2:53688293-53688294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374850769	chr2:53688301-53688302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534769504	chr2:53688320-53688321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548086406	chr2:53688328-53688329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570751426	chr2:53688339-53688340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568293274	chr2:53688455-53688456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368019111	chr2:53688458-53688459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181714253	chr2:53688472-53688473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2172643	chr2:53688482-53688483	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs148645152	chr2:53688503-53688504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75068461	chr2:53688513-53688514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572615891	chr2:53688532-53688533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185441157	chr2:53688536-53688537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562130652	chr2:53688561-53688562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35823610	chr2:53688562-53688563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575826981	chr2:53688575-53688576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544555657	chr2:53688590-53688591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189418171	chr2:53688606-53688607	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53687200-53688400	Enhancers	Hela-S3	cervix
2	chr2:53687400-53688400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:53687600-53688400	Enhancers	Stomach Smooth Muscle	stomach
4	chr2:53687600-53690000	Enhancers	Fetal Heart	heart
5	chr2:53689200-53689400	Enhancers	Fetal Brain Male	brain
6	chr2:53689400-53690600	Weak transcription	Fetal Brain Male	brain
7	chr2:53690000-53691000	Weak transcription	Fetal Heart	heart
8	chr2:53690400-53691800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:53690600-53692200	Enhancers	Fetal Brain Male	brain
10	chr2:53690800-53692000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:53691000-53692000	Enhancers	Fetal Heart	heart
12	chr2:53691400-53691800	Enhancers	Brain Anterior Caudate	brain
13	chr2:53691800-53692200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:53694600-53695400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:53694600-53695400	Enhancers	Brain Germinal Matrix	brain
16	chr2:53694800-53695000	Enhancers	Fetal Kidney	kidney
17	chr2:53697600-53698000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:53697600-53698200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:53697600-53698200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:53697600-53698200	Enhancers	HMEC	breast
21	chr2:53697600-53698200	Enhancers	NHEK	skin
22	chr2:53698000-53698200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:53698000-53706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:53698200-53700400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:53698200-53702200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:53698200-53702200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:53698200-53702200	Weak transcription	HMEC	breast
28	chr2:53698200-53702200	Weak transcription	NHEK	skin
29	chr2:53700000-53703000	Enhancers	Hela-S3	cervix
30	chr2:53700200-53700800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:53700400-53700600	Enhancers	NH-A	brain
32	chr2:53700400-53700600	Enhancers	NHLF	lung
33	chr2:53700400-53701200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:53700400-53701200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:53700400-53704200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:53700800-53701000	Enhancers	NHDF-Ad	bronchial
37	chr2:53700800-53702400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:53701000-53702000	Weak transcription	NHDF-Ad	bronchial
39	chr2:53701000-53702200	Weak transcription	NHLF	lung
40	chr2:53701200-53702200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:53701200-53704000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:53702000-53703200	Enhancers	NHDF-Ad	bronchial
43	chr2:53702200-53702600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:53702200-53703200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:53702200-53703200	Enhancers	A549	lung
46	chr2:53702200-53703200	Enhancers	NHLF	lung
47	chr2:53702200-53703400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:53702200-53703600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:53702200-53703600	Enhancers	NH-A	brain
50	chr2:53702200-53704000	Enhancers	HMEC	breast

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