Variant report

Variant	nsv1001572
Chromosome Location	chr3:87942288-87983962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:145)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:145 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr3:87973696-87974038	K562	blood:	n/a	n/a
2	CBX3	chr3:87973588-87974073	K562	blood:	n/a	n/a
3	CEBPB	chr3:87948905-87949036	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr3:87949360-87949510	GM12873	blood:	n/a	n/a
5	CTCF	chr3:87949316-87949398	SK-N-SH_RA	brain:	n/a	n/a
6	CTCF	chr3:87949280-87949430	HAc	cerebellar:	n/a	n/a
7	CTCF	chr3:87949380-87949530	HCFaa	heart:	n/a	n/a
8	CTCF	chr3:87949320-87949470	HMF	breast:	n/a	n/a
9	CTCF	chr3:87949320-87949470	HL-60	blood:	n/a	n/a
10	CTCF	chr3:87949320-87949470	HFF-Myc	foreskin:	n/a	n/a
11	CTCF	chr3:87949373-87949477	Medullo	brain:	n/a	n/a
12	CTCF	chr3:87949320-87949470	HEEpiC	esophagus:	n/a	n/a
13	CTCF	chr3:87949300-87949450	HMEC	breast:	n/a	n/a
14	CTCF	chr3:87949301-87949509	GM12878	blood:	n/a	n/a
15	CTCF	chr3:87949358-87949471	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr3:87949300-87949450	GM12878	blood:	n/a	n/a
17	CTCF	chr3:87949332-87949473	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr3:87949380-87949530	HepG2	liver:	n/a	n/a
19	CTCF	chr3:87949360-87949510	GM12864	blood:	n/a	n/a
20	CTCF	chr3:87949340-87949490	GM12874	blood:	n/a	n/a
21	CTCF	chr3:87949327-87949436	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr3:87949363-87949436	GM13976	blood:	n/a	n/a
23	CTCF	chr3:87949340-87949490	HMEC	breast:	n/a	n/a
24	CTCF	chr3:87949420-87949570	RPTEC	kidney:	n/a	n/a
25	CTCF	chr3:87949320-87949470	HCPEpiC	choroid plexus:	n/a	n/a
26	CTCF	chr3:87949313-87949506	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr3:87949360-87949510	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr3:87949385-87949469	HepG2	liver:	n/a	n/a
29	CTCF	chr3:87949237-87949548	IMR90	lung:	n/a	n/a
30	CTCF	chr3:87949340-87949490	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr3:87949276-87949517	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr3:87949300-87949450	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr3:87949320-87949470	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr3:87949320-87949470	GM12874	blood:	n/a	n/a
35	CTCF	chr3:87949340-87949490	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr3:87949360-87949510	NHLF	lung:	n/a	n/a
37	CTCF	chr3:87949212-87949583	GM12878	blood:	n/a	n/a
38	CTCF	chr3:87949300-87949450	AG09319	gingival:	n/a	n/a
39	CTCF	chr3:87949340-87949490	BJ	skin:	n/a	n/a
40	CTCF	chr3:87949380-87949530	NHEK	skin:	n/a	n/a
41	CTCF	chr3:87949360-87949510	NB4	blood:	n/a	n/a
42	CTCF	chr3:87949320-87949470	BJ	skin:	n/a	n/a
43	CTCF	chr3:87949360-87949510	RPTEC	kidney:	n/a	n/a
44	CTCF	chr3:87949280-87949430	GM12872	blood:	n/a	n/a
45	CTCF	chr3:87949360-87949510	GM12872	blood:	n/a	n/a
46	CTCF	chr3:87949400-87949550	HRE	kidney:	n/a	n/a
47	CTCF	chr3:87967326-87967345	GM13976	blood:	n/a	n/a
48	CTCF	chr3:87949300-87949450	NHDF-neo	bronchial:	n/a	n/a
49	CTCF	chr3:87949320-87949413	Lung_OC	lung:	n/a	n/a
50	CTCF	chr3:87949320-87949470	NHDF-neo	bronchial:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:87948990..87949967-chr3:88052412..88052973,2	MCF-7	breast:
2	chr3:87949008..87949986-chr3:88051988..88052893,3	MCF-7	breast:
3	chr3:87347022..87347886-chr3:87948968..87949826,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6ATAC6P	TF binding region

Extended variants
information (count: 1475 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1475 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146980261	chr3:87942366-87942367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183529792	chr3:87942381-87942382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535321284	chr3:87942416-87942417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551540622	chr3:87942431-87942432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545675667	chr3:87942434-87942435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189085873	chr3:87942440-87942441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17025129	chr3:87942444-87942445	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550686539	chr3:87942471-87942472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181031255	chr3:87942485-87942486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367579614	chr3:87942513-87942514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530022328	chr3:87942536-87942537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548206824	chr3:87942541-87942542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573005897	chr3:87942547-87942548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567050885	chr3:87942567-87942568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187159945	chr3:87942605-87942606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111550428	chr3:87942607-87942608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190834764	chr3:87942634-87942635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537912613	chr3:87942669-87942670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181452006	chr3:87942700-87942701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1503430	chr3:87942715-87942716	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs368044233	chr3:87942764-87942765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553776023	chr3:87942788-87942789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139183749	chr3:87942796-87942797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546083684	chr3:87942820-87942821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564100236	chr3:87942841-87942842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186139068	chr3:87942842-87942843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1503431	chr3:87942861-87942862	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2932302	chr3:87942891-87942892	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs535805754	chr3:87943021-87943022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548282989	chr3:87943127-87943128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190124427	chr3:87943156-87943157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556001385	chr3:87943162-87943163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112398757	chr3:87943163-87943164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527931981	chr3:87943165-87943166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182584522	chr3:87943179-87943180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549912663	chr3:87943188-87943189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571022677	chr3:87943206-87943207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572594864	chr3:87943208-87943209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111956757	chr3:87943268-87943269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541237682	chr3:87943300-87943301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550422277	chr3:87943308-87943309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568155987	chr3:87943314-87943315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148954392	chr3:87943375-87943376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2099228	chr3:87943409-87943410	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577739093	chr3:87943474-87943475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572031603	chr3:87943480-87943481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143685564	chr3:87943504-87943505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558020559	chr3:87943510-87943511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148089702	chr3:87943552-87943553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548247821	chr3:87943554-87943555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:87936400-87942600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:87938800-87946800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:87941400-87944400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:87942600-87947400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:87944400-87948600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:87944800-87945000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr3:87945000-87947000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:87946800-87947600	Strong transcription	Primary hematopoietic stem cells	blood
9	chr3:87947000-87947200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr3:87947200-87948000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:87947400-87947600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:87947600-87947800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:87947600-87949200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:87947800-87951800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:87948000-87948400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr3:87948600-87951600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:87949200-87951600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr3:87949600-87950200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:87951600-87953800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr3:87951800-87953000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:87953000-87964800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:87953800-87954600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
23	chr3:87954000-87954400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr3:87955000-87957000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:87956800-87957000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr3:87957800-87960000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:87957800-87960400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr3:87963400-87964600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:87963600-87964200	Enhancers	Primary B cells from peripheral blood	blood
30	chr3:87970800-87980200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:87971200-87972200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:87974200-87974800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr3:87974200-87974800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
34	chr3:87974400-87980000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr3:87974600-87975200	ZNF genes & repeats	K562	blood
36	chr3:87974800-87980200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:87975200-87983200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr3:87975200-87983200	Weak transcription	K562	blood
39	chr3:87980200-87983000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:87982800-87991400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:87983000-87984600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr3:87983000-87986400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:87983200-87983600	ZNF genes & repeats	K562	blood
44	chr3:87983200-87984600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr3:87983600-87983800	Weak transcription	K562	blood

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