Variant report

Variant	nsv963573
Chromosome Location	chr3:83970437-84001140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:336)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:336 , 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	BHLHE40	chr3:83977723-83977772	GM12878	blood:	n/a	n/a
2	BRCA1	chr3:83983385-83983959	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr3:83983317-83984228	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr3:83991480-83991810	HepG2	liver:	n/a	n/a
5	CEBPB	chr3:83991533-83991808	A549	lung:	n/a	n/a
6	CEBPB	chr3:83991441-83991746	MCF-7	breast:	n/a	n/a
7	CEBPB	chr3:83991607-83991810	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr3:83991555-83991811	ECC-1	luminal epithelium:	n/a	n/a
9	CEBPB	chr3:83981475-83981520	HepG2	liver:	n/a	chr3:83981494-83981505
10	CEBPB	chr3:83983591-83983894	MCF-7	breast:	n/a	n/a
11	CHD1	chr3:83983709-83983909	GM12878	blood:	n/a	n/a
12	CHD2	chr3:83983438-83984252	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr3:83995800-83995950	MCF-7	breast:	n/a	n/a
14	CTCF	chr3:83978100-83978250	RPTEC	kidney:	n/a	n/a
15	CTCF	chr3:83983401-83983636	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr3:83995860-83996010	RPTEC	kidney:	n/a	n/a
17	CTCF	chr3:83977660-83977810	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr3:83977612-83977804	IMR90	lung:	n/a	n/a
19	CTCF	chr3:83977660-83977810	MCF-7	breast:	n/a	n/a
20	CTCF	chr3:83995821-83995973	LNCaP	prostate:	n/a	n/a
21	CTCF	chr3:83977680-83977830	GM12871	blood:	n/a	n/a
22	CTCF	chr3:83977680-83977830	BE2_C	brain:	n/a	n/a
23	CTCF	chr3:83977720-83977870	RPTEC	kidney:	n/a	n/a
24	CTCF	chr3:83977630-83977823	K562	blood:	n/a	n/a
25	CTCF	chr3:83977560-83977897	K562	blood:	n/a	n/a
26	CTCF	chr3:83977680-83977830	GM12870	blood:	n/a	n/a
27	CTCF	chr3:83995840-83995990	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr3:83995800-83995950	HAc	cerebellar:	n/a	n/a
29	CTCF	chr3:83977580-83977730	Caco-2	colon:	n/a	n/a
30	CTCF	chr3:83995804-83995994	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr3:83977700-83977850	NHEK	skin:	n/a	n/a
32	CTCF	chr3:83977646-83977802	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr3:83977600-83977750	GM12867	blood:	n/a	n/a
34	CTCF	chr3:83977700-83977850	GM12864	blood:	n/a	n/a
35	CTCF	chr3:83995840-83995990	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr3:83977563-83977854	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr3:83977660-83977810	GM12878	blood:	n/a	n/a
38	CTCF	chr3:83983400-83983550	NHEK	skin:	n/a	n/a
39	CTCF	chr3:83977653-83977837	A549	lung:	n/a	n/a
40	CTCF	chr3:83995920-83996070	BE2_C	brain:	n/a	n/a
41	CTCF	chr3:83977640-83977790	AG09319	gingival:	n/a	n/a
42	CTCF	chr3:83995840-83995990	NHEK	skin:	n/a	n/a
43	CTCF	chr3:83995821-83995953	Gliobla	brain:	n/a	n/a
44	CTCF	chr3:83977643-83977844	HepG2	liver:	n/a	n/a
45	CTCF	chr3:83983480-83983630	MCF-7	breast:	n/a	n/a
46	CTCF	chr3:83977640-83977790	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr3:83977531-83977933	GM12878	blood:	n/a	n/a
48	CTCF	chr3:83977440-83977590	GM12875	blood:	n/a	n/a
49	CTCF	chr3:83995820-83995970	Caco-2	colon:	n/a	n/a
50	CTCF	chr3:83977600-83977750	SAEC	small airway:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:83995499..83996096-chr3:84821714..84822693,2	MCF-7	breast:
2	chr3:83970197..83973133-chr3:83973746..83975607,2	K562	blood:
3	chr3:83991044..83993395-chr3:83994655..83997111,2	MCF-7	breast:
4	chr3:83994663..83995221-chr3:84185471..84186276,2	MCF-7	breast:
5	chr2:145590313..145591173-chr3:83995793..83996595,2	MCF-7	breast:
6	chr3:83572371..83572963-chr3:83977245..83977786,2	MCF-7	breast:
7	chr3:81959276..81960101-chr3:83977242..83977869,2	MCF-7	breast:
8	chr3:83970197..83973133-chr3:83973746..83975607,2	K562	blood:
9	chr3:83991044..83993395-chr3:83994655..83997111,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CADM2-10	chr3:83986196-83987387	NONHSAT090638

No data

Variant related genes	Relation type
SRRM1P2	TF binding region

Extended variants
information (count: 1116 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1116 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557512594	chr3:83970499-83970500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62260261	chr3:83970589-83970590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116600845	chr3:83970681-83970682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376192089	chr3:83970703-83970704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189325477	chr3:83970718-83970719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561969347	chr3:83970772-83970773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11715827	chr3:83970787-83970788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs180755405	chr3:83970797-83970798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559807427	chr3:83970799-83970800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148844399	chr3:83970936-83970937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576401742	chr3:83970937-83970938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541819953	chr3:83970953-83970954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146966184	chr3:83970976-83970977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551834032	chr3:83971017-83971018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570089180	chr3:83971035-83971036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537607995	chr3:83971071-83971072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555080448	chr3:83971074-83971075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186139540	chr3:83971076-83971077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs66704326	chr3:83971126-83971127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs147559755	chr3:83971153-83971154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553280498	chr3:83971245-83971246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527830305	chr3:83971429-83971430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571692014	chr3:83971440-83971441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539104235	chr3:83971449-83971450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547468300	chr3:83971483-83971484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191113999	chr3:83971523-83971524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576057630	chr3:83971524-83971525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111737538	chr3:83971531-83971532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555616242	chr3:83971555-83971556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557714298	chr3:83971559-83971560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72906303	chr3:83971571-83971572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186082160	chr3:83971606-83971607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142007607	chr3:83971640-83971641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533349717	chr3:83971649-83971650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545116924	chr3:83971653-83971654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563965573	chr3:83971717-83971718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190795717	chr3:83971726-83971727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62260262	chr3:83971795-83971796	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs76425025	chr3:83971805-83971806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567502031	chr3:83971835-83971836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528696657	chr3:83971844-83971845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546880373	chr3:83971880-83971881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183050572	chr3:83971934-83971935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539373611	chr3:83971939-83971940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187784948	chr3:83971954-83971955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550072594	chr3:83971962-83971963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75312747	chr3:83971980-83971981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370586326	chr3:83972044-83972045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536768725	chr3:83972077-83972078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62260263	chr3:83972081-83972082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83953600-83977600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:83973400-83973600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:83973600-83975200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:83974200-83976800	Weak transcription	HMEC	breast
5	chr3:83975200-83976400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:83975400-83980800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:83976800-83977000	ZNF genes & repeats	HMEC	breast
8	chr3:83977400-83980400	ZNF genes & repeats	Dnd41	blood
9	chr3:83977600-83979000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:83977600-83980200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:83977800-83979400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:83978000-83979600	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr3:83979800-83980000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:83980000-83983400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:83980200-83982400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:83980600-83981000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:83981000-83983400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:83982200-83983600	ZNF genes & repeats	Dnd41	blood
19	chr3:83982200-83985000	Enhancers	Hela-S3	cervix
20	chr3:83982400-83982600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:83982400-83985400	Enhancers	HMEC	breast
22	chr3:83982600-83983000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:83982600-83985400	Enhancers	NHEK	skin
24	chr3:83983000-83985200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:83983000-83986200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:83983200-83983800	Enhancers	A549	lung
27	chr3:83983200-83984200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:83983200-83984400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr3:83983200-83984600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:83983200-83984800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr3:83983200-83985200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:83983400-83984000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:83983400-83984200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:83983400-83984200	Enhancers	NH-A	brain
35	chr3:83983400-83984800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:83983400-83985600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:83983600-83984000	Enhancers	Dnd41	blood
38	chr3:83983600-83984000	Enhancers	HepG2	liver
39	chr3:83984000-83984200	Flanking Active TSS	Dnd41	blood
40	chr3:83984200-83984800	Enhancers	Dnd41	blood
41	chr3:83984400-83987400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr3:83984800-83985200	Flanking Active TSS	Dnd41	blood
43	chr3:83984800-83985600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:83985000-83987200	Weak transcription	Hela-S3	cervix
45	chr3:83985200-83988000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:83985200-83988200	Enhancers	Dnd41	blood
47	chr3:83985400-83985800	Weak transcription	NHEK	skin
48	chr3:83985600-83985800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:83987200-83988200	Enhancers	Hela-S3	cervix
50	chr3:83987400-83988200	Enhancers	Muscle Satellite Cultured Cells	--

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