Variant report

Variant	nsv1008648
Chromosome Location	chr2:53683543-53708531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:371)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr2:53703941-53704510	Hela-S3	cervix:	n/a	n/a
2	BRCA1	chr2:53702397-53703247	Hela-S3	cervix:	n/a	n/a
3	CBX3	chr2:53702123-53703068	HCT-116	colon:	n/a	n/a
4	CBX3	chr2:53701938-53703325	HCT-116	colon:	n/a	n/a
5	CBX3	chr2:53703850-53704480	HCT-116	colon:	n/a	n/a
6	CEBPB	chr2:53702263-53703112	HCT-116	colon:	n/a	chr2:53703002-53703019
7	CEBPB	chr2:53700457-53700739	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr2:53703905-53704648	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr2:53702175-53703286	Hela-S3	cervix:	n/a	chr2:53703002-53703019
10	CEBPB	chr2:53701031-53701420	Hela-S3	cervix:	n/a	chr2:53701315-53701327
11	CEBPB	chr2:53687630-53687871	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr2:53702219-53703198	HCT-116	colon:	n/a	chr2:53703002-53703019
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	chr2:53700540-53700690	HMF	breast:	n/a	n/a
18	CTCF	chr2:53700520-53700670	HepG2	liver:	n/a	n/a
19	CTCF	chr2:53700535-53700617	GM10248	blood:	n/a	n/a
20	CTCF	chr2:53700540-53700690	HCT-116	colon:	n/a	n/a
21	CTCF	chr2:53687522-53687736	ProgFib	skin:	n/a	chr2:53687623-53687631
22	CTCF	chr2:53700499-53700668	K562	blood:	n/a	n/a
23	CTCF	chr2:53700540-53700690	AG04449	skin:	n/a	n/a
24	CTCF	chr2:53700493-53700712	K562	blood:	n/a	n/a
25	CTCF	chr2:53700440-53700590	GM12870	blood:	n/a	n/a
26	CTCF	chr2:53700520-53700670	GM12872	blood:	n/a	n/a
27	CTCF	chr2:53687548-53687746	MCF-7	breast:	n/a	chr2:53687623-53687631
28	CTCF	chr2:53700520-53700670	GM12870	blood:	n/a	n/a
29	CTCF	chr2:53687520-53687670	HFF-Myc	foreskin:	n/a	chr2:53687623-53687631
30	CTCF	chr2:53700500-53700650	HCT-116	colon:	n/a	n/a
31	CTCF	chr2:53700502-53700686	ProgFib	skin:	n/a	n/a
32	CTCF	chr2:53700519-53700657	GM19239	blood:	n/a	n/a
33	CTCF	chr2:53687413-53687846	MCF-7	breast:	n/a	chr2:53687623-53687631
34	CTCF	chr2:53700523-53700661	LNCaP	prostate:	n/a	n/a
35	CTCF	chr2:53700520-53700670	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr2:53700500-53700650	BE2_C	brain:	n/a	n/a
37	CTCF	chr2:53687496-53687759	MCF-7	breast:	n/a	chr2:53687623-53687631
38	CTCF	chr2:53700500-53700650	GM12864	blood:	n/a	n/a
39	CTCF	chr2:53700500-53700650	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr2:53700520-53700670	HCFaa	heart:	n/a	n/a
41	CTCF	chr2:53700540-53700690	HEK293	kidney:	n/a	n/a
42	CTCF	chr2:53700500-53700693	GM19240	blood:	n/a	n/a
43	CTCF	chr2:53700560-53700710	A549	lung:	n/a	n/a
44	CTCF	chr2:53687527-53687727	LNCaP	prostate:	n/a	chr2:53687623-53687631
45	CTCF	chr2:53687536-53687749	MCF-7	breast:	n/a	chr2:53687623-53687631
46	CTCF	chr2:53700520-53700670	NB4	blood:	n/a	n/a
47	CTCF	chr2:53700560-53700710	AG09309	skin:	n/a	n/a
48	CTCF	chr2:53700250-53700862	HCT-116	colon:	n/a	n/a
49	CTCF	chr2:53700500-53700650	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr2:53687500-53687650	HCFaa	heart:	n/a	chr2:53687623-53687631

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:53701531-53701581	AG04449	skin:	fetal
2	chr2:53701531-53701581	SAEC	small airway:	n/a
3	chr2:53701531-53701581	PANC-1	pancreas:	n/a
4	chr2:53701531-53701581	SKMC	muscle:	n/a
5	chr2:53701531-53701581	Caco-2	colon:	n/a
6	chr2:53701531-53701581	Hela-S3	cervix:	n/a
7	chr2:53701531-53701581	ProgFib	skin:	n/a
8	chr2:53701531-53701581	NT2-D1	testis:	n/a
9	chr2:53701531-53701581	IMR90	lung:	fetal
10	chr2:53701531-53701581	MCF10A-Er-Src	breast:	n/a
11	chr2:53701531-53701581	CMK	blood:	n/a
12	chr2:53701531-53701581	SK-N-SH	brain:	n/a
13	chr2:53701531-53701581	AG10803	skin:	n/a
14	chr2:53701531-53701581	SK-N-SH_RA	brain:	n/a
15	chr2:53701531-53701581	HEK293	kidney:	embryo
16	chr2:53701531-53701581	HCPEpiC	choroid plexus:	n/a
17	chr2:53701531-53701581	AG09309	skin:	n/a
18	chr2:53701531-53701581	AoSMC	blood vessel:	n/a
19	chr2:53701531-53701581	K562	blood:	n/a
20	chr2:53701531-53701581	HepG2	liver:	n/a
21	chr2:53701531-53701581	LNCaP	prostate:	n/a
22	chr2:53701531-53701581	HPAEpiC	pulmonary alveolar:	n/a
23	chr2:53701531-53701581	AG04450	lung:	fetal
24	chr2:53701531-53701581	GM12892	blood:	n/a
25	chr2:53701531-53701581	HIPEpiC	eye:	n/a
26	chr2:53701531-53701581	HUVEC	blood vessel:	n/a
27	chr2:53701531-53701581	HMEC	breast:	n/a
28	chr2:53701531-53701581	Hepatocyte	liver:	n/a
29	chr2:53701531-53701581	GM06990	blood:	n/a
30	chr2:53701531-53701581	A549	lung:	n/a
31	chr2:53701531-53701581	ECC-1	luminal epithelium:	n/a
32	chr2:53701531-53701581	NHDF-neo	bronchial:	n/a
33	chr2:53701531-53701581	GM12891	blood:	n/a
34	chr2:53701531-53701581	BJ	skin:	n/a
35	chr2:53701531-53701581	PrEC	prostate:	n/a
36	chr2:53701531-53701581	H1-hESC	embryonic stem cell:	embryo
37	chr2:53701531-53701581	GM19239	blood:	n/a
38	chr2:53701531-53701581	MCF-7	breast:	n/a
39	chr2:53701531-53701581	T-47D	breast:	n/a
40	chr2:53701531-53701581	U87	brain:	n/a
41	chr2:53701531-53701581	AG09319	gingival:	n/a
42	chr2:53701531-53701581	HCT-116	colon:	n/a
43	chr2:53701531-53701581	RPTEC	kidney:	n/a
44	chr2:53701531-53701581	SK-N-MC	brain:	n/a
45	chr2:53701531-53701581	HRE	kidney:	n/a
46	chr2:53701531-53701581	HEEpiC	esophagus:	n/a
47	chr2:53701531-53701581	PFSK-1	brain:	n/a
48	chr2:53701531-53701581	HAEpiC	amniotic membrane:	n/a
49	chr2:53701531-53701581	HCM	heart:	n/a
50	chr2:53701531-53701581	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:53687502..53690121-chr2:53692072..53694054,2	K562	blood:
2	chr2:53691365..53693137-chr2:53701304..53703137,2	MCF-7	breast:
3	chr2:53691365..53693137-chr2:53701304..53703137,2	MCF-7	breast:
4	chr2:53687389..53688064-chr2:53942616..53943230,2	MCF-7	breast:
5	chr2:53687502..53690121-chr2:53692072..53694054,2	K562	blood:
6	chr2:53203292..53203812-chr2:53700344..53701275,2	MCF-7	breast:
7	chr2:53678969..53680574-chr2:53681500..53683564,2	MCF-7	breast:
8	chr2:53115077..53117448-chr2:53686034..53688851,2	MCF-7	breast:

No data

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

Extended variants
information (count: 889 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:889 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531103187	chr2:53683546-53683547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180976364	chr2:53683581-53683582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111391145	chr2:53683608-53683609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149419396	chr2:53683616-53683617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116164095	chr2:53683652-53683653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117894709	chr2:53683670-53683671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559657274	chr2:53683672-53683673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11896428	chr2:53683731-53683732	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs529342161	chr2:53683740-53683741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549476439	chr2:53683874-53683875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370380755	chr2:53683894-53683895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185671285	chr2:53683936-53683937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556890183	chr2:53683957-53683958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190546226	chr2:53684034-53684035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10193267	chr2:53684046-53684047	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs375142995	chr2:53684063-53684064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539351696	chr2:53684065-53684066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80082679	chr2:53684097-53684098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552881926	chr2:53684117-53684118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182427240	chr2:53684120-53684121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186637609	chr2:53684212-53684213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190561972	chr2:53684238-53684239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181144480	chr2:53684308-53684309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544744446	chr2:53684341-53684342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564519754	chr2:53684343-53684344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533613969	chr2:53684352-53684353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148174939	chr2:53684366-53684367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560795034	chr2:53684372-53684373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529277589	chr2:53684379-53684380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35296436	chr2:53684459-53684460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549414507	chr2:53684465-53684466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562962786	chr2:53684515-53684516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371551474	chr2:53684518-53684519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531716132	chr2:53684538-53684539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141938763	chr2:53684543-53684544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570536118	chr2:53684557-53684558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146136229	chr2:53684590-53684591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1494022	chr2:53684617-53684618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs566443464	chr2:53684635-53684636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10174427	chr2:53684684-53684685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs185588369	chr2:53684687-53684688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189706510	chr2:53684704-53684705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537534566	chr2:53684732-53684733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377120538	chr2:53684738-53684739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139197006	chr2:53684779-53684780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578094430	chr2:53684860-53684861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72908927	chr2:53684879-53684880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs560733737	chr2:53684906-53684907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532038876	chr2:53684932-53684933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551772144	chr2:53684966-53684967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53673800-53687200	Weak transcription	Hela-S3	cervix
2	chr2:53679200-53683600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:53682600-53683600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:53682800-53683800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:53682800-53683800	Weak transcription	Placenta	Placenta
6	chr2:53683400-53684000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr2:53684000-53684200	Enhancers	Placenta	Placenta
8	chr2:53687200-53688400	Enhancers	Hela-S3	cervix
9	chr2:53687400-53688400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:53687600-53688400	Enhancers	Stomach Smooth Muscle	stomach
11	chr2:53687600-53690000	Enhancers	Fetal Heart	heart
12	chr2:53689200-53689400	Enhancers	Fetal Brain Male	brain
13	chr2:53689400-53690600	Weak transcription	Fetal Brain Male	brain
14	chr2:53690000-53691000	Weak transcription	Fetal Heart	heart
15	chr2:53690400-53691800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:53690600-53692200	Enhancers	Fetal Brain Male	brain
17	chr2:53690800-53692000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:53691000-53692000	Enhancers	Fetal Heart	heart
19	chr2:53691400-53691800	Enhancers	Brain Anterior Caudate	brain
20	chr2:53691800-53692200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:53694600-53695400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:53694600-53695400	Enhancers	Brain Germinal Matrix	brain
23	chr2:53694800-53695000	Enhancers	Fetal Kidney	kidney
24	chr2:53697600-53698000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:53697600-53698200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:53697600-53698200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:53697600-53698200	Enhancers	HMEC	breast
28	chr2:53697600-53698200	Enhancers	NHEK	skin
29	chr2:53698000-53698200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:53698000-53706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:53698200-53700400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:53698200-53702200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:53698200-53702200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:53698200-53702200	Weak transcription	HMEC	breast
35	chr2:53698200-53702200	Weak transcription	NHEK	skin
36	chr2:53700000-53703000	Enhancers	Hela-S3	cervix
37	chr2:53700200-53700800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:53700400-53700600	Enhancers	NH-A	brain
39	chr2:53700400-53700600	Enhancers	NHLF	lung
40	chr2:53700400-53701200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:53700400-53701200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:53700400-53704200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:53700800-53701000	Enhancers	NHDF-Ad	bronchial
44	chr2:53700800-53702400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:53701000-53702000	Weak transcription	NHDF-Ad	bronchial
46	chr2:53701000-53702200	Weak transcription	NHLF	lung
47	chr2:53701200-53702200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:53701200-53704000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:53702000-53703200	Enhancers	NHDF-Ad	bronchial
50	chr2:53702200-53702600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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