Variant report

Variant	nsv522771
Chromosome Location	chr2:53693619-53701324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:180)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:180 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:53700457-53700739	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr2:53701031-53701420	Hela-S3	cervix:	n/a	chr2:53701315-53701327
3	CHD1	chr2:53696089-53696141	GM12878	blood:	n/a	n/a
4	CHD2	chr2:53700516-53700716	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr2:53700540-53700690	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr2:53700500-53700650	GM12874	blood:	n/a	n/a
7	CTCF	chr2:53700398-53700706	T-47D	breast:	n/a	n/a
8	CTCF	chr2:53700560-53700710	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr2:53700502-53700686	ProgFib	skin:	n/a	n/a
10	CTCF	chr2:53700500-53700650	GM12871	blood:	n/a	n/a
11	CTCF	chr2:53700560-53700710	GM12871	blood:	n/a	n/a
12	CTCF	chr2:53700540-53700690	GM12873	blood:	n/a	n/a
13	CTCF	chr2:53700540-53700690	GM12875	blood:	n/a	n/a
14	CTCF	chr2:53700540-53700690	HEK293	kidney:	n/a	n/a
15	CTCF	chr2:53700485-53700707	Pancreas_OC	pancreas:	n/a	n/a
16	CTCF	chr2:53700540-53700690	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr2:53700423-53700844	MCF-7	breast:	n/a	n/a
18	CTCF	chr2:53700505-53700675	GM12891	blood:	n/a	n/a
19	CTCF	chr2:53700519-53700657	GM19239	blood:	n/a	n/a
20	CTCF	chr2:53700460-53700610	GM12866	blood:	n/a	n/a
21	CTCF	chr2:53700540-53700690	HCT-116	colon:	n/a	n/a
22	CTCF	chr2:53700535-53700617	GM10248	blood:	n/a	n/a
23	CTCF	chr2:53700500-53700650	NHEK	skin:	n/a	n/a
24	CTCF	chr2:53700504-53700704	HepG2	liver:	n/a	n/a
25	CTCF	chr2:53700520-53700670	GM12873	blood:	n/a	n/a
26	CTCF	chr2:53700500-53700693	GM19240	blood:	n/a	n/a
27	CTCF	chr2:53700239-53700876	SK-N-SH	brain:	n/a	n/a
28	CTCF	chr2:53700363-53700762	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr2:53700500-53700650	HPF	lung:	n/a	n/a
30	CTCF	chr2:53700500-53700790	A549	lung:	n/a	n/a
31	CTCF	chr2:53700493-53700712	K562	blood:	n/a	n/a
32	CTCF	chr2:53700500-53700650	HCT-116	colon:	n/a	n/a
33	CTCF	chr2:53700580-53700730	HL-60	blood:	n/a	n/a
34	CTCF	chr2:53700560-53700710	HRPEpiC	eye:	n/a	n/a
35	CTCF	chr2:53700481-53700629	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr2:53700440-53700590	GM12870	blood:	n/a	n/a
37	CTCF	chr2:53700460-53700610	AG04449	skin:	n/a	n/a
38	CTCF	chr2:53700540-53700690	K562	blood:	n/a	n/a
39	CTCF	chr2:53700523-53700661	LNCaP	prostate:	n/a	n/a
40	CTCF	chr2:53700500-53700650	Caco-2	colon:	n/a	n/a
41	CTCF	chr2:53700419-53700745	IMR90	lung:	n/a	n/a
42	CTCF	chr2:53700480-53700630	NHEK	skin:	n/a	n/a
43	CTCF	chr2:53700520-53700670	K562	blood:	n/a	n/a
44	CTCF	chr2:53700560-53700710	GM06990	blood:	n/a	n/a
45	CTCF	chr2:53700472-53700700	Fibrobl	skin:	n/a	n/a
46	CTCF	chr2:53700480-53700630	AG09309	skin:	n/a	n/a
47	CTCF	chr2:53700540-53700690	GM12868	blood:	n/a	n/a
48	CTCF	chr2:53700520-53700670	GM12878	blood:	n/a	n/a
49	CTCF	chr2:53700540-53700690	AG04449	skin:	n/a	n/a
50	CTCF	chr2:53700414-53700789	GM12878	blood:	n/a	n/a

No data

(count:3 , 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	chr2:53203292..53203812-chr2:53700344..53701275,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251942	TF binding region

Extended variants
information (count: 202 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:202 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577939047	chr2:53694608-53694609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186520365	chr2:53694649-53694650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146873182	chr2:53694650-53694651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578252164	chr2:53694665-53694666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6708820	chr2:53694675-53694676	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs140739951	chr2:53694677-53694678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573976649	chr2:53694689-53694690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536912364	chr2:53694752-53694753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550419801	chr2:53694759-53694760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575065264	chr2:53694790-53694791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564724118	chr2:53694792-53694793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143761749	chr2:53694805-53694806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562957745	chr2:53694818-53694819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113479622	chr2:53694825-53694826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189860991	chr2:53694828-53694829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs903231	chr2:53694846-53694847	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs546608206	chr2:53694911-53694912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557610751	chr2:53694913-53694914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs903230	chr2:53694917-53694918	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528896937	chr2:53694921-53694922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183171537	chr2:53694979-53694980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568977601	chr2:53694989-53694990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189252799	chr2:53695021-53695022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148140328	chr2:53695034-53695035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571916309	chr2:53695042-53695043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534484767	chr2:53695068-53695069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554199916	chr2:53695069-53695070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547869001	chr2:53695083-53695084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs903229	chr2:53695084-53695085	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs556189334	chr2:53695113-53695114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs985549	chr2:53695127-53695128	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs192887898	chr2:53695141-53695142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140150250	chr2:53695154-53695155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577798677	chr2:53695175-53695176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540487597	chr2:53695226-53695227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560210602	chr2:53695227-53695228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185125758	chr2:53695232-53695233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549009287	chr2:53695237-53695238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562508054	chr2:53695278-53695279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531429419	chr2:53695280-53695281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188393938	chr2:53695288-53695289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571793310	chr2:53695310-53695311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs55923674	chr2:53695360-53695361	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs577337639	chr2:53697606-53697607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550124937	chr2:53697644-53697645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115198895	chr2:53697659-53697660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376182178	chr2:53697726-53697727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564130049	chr2:53697741-53697742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs28379461	chr2:53697752-53697753	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs79042843	chr2:53697794-53697795	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53694600-53695400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:53694600-53695400	Enhancers	Brain Germinal Matrix	brain
3	chr2:53694800-53695000	Enhancers	Fetal Kidney	kidney
4	chr2:53697600-53698000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:53697600-53698200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:53697600-53698200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:53697600-53698200	Enhancers	HMEC	breast
8	chr2:53697600-53698200	Enhancers	NHEK	skin
9	chr2:53698000-53698200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:53698000-53706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:53698200-53700400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:53698200-53702200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:53698200-53702200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:53698200-53702200	Weak transcription	HMEC	breast
15	chr2:53698200-53702200	Weak transcription	NHEK	skin
16	chr2:53700000-53703000	Enhancers	Hela-S3	cervix
17	chr2:53700200-53700800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:53700400-53700600	Enhancers	NH-A	brain
19	chr2:53700400-53700600	Enhancers	NHLF	lung
20	chr2:53700400-53701200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:53700400-53701200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:53700400-53704200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:53700800-53701000	Enhancers	NHDF-Ad	bronchial
24	chr2:53700800-53702400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:53701000-53702000	Weak transcription	NHDF-Ad	bronchial
26	chr2:53701000-53702200	Weak transcription	NHLF	lung
27	chr2:53701200-53702200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:53701200-53704000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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