Variant report

Variant	nsv965184
Chromosome Location	chr3:90202286-90234890
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:90231756-90231981	HepG2	liver:	n/a	n/a
2	BRCA1	chr3:90202441-90202478	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr3:90231626-90231993	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr3:90231705-90231837	HepG2	liver:	n/a	n/a
5	CEBPB	chr3:90231747-90231973	A549	lung:	n/a	n/a
6	CEBPB	chr3:90231696-90231982	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr3:90231620-90231770	NHEK	skin:	n/a	n/a
8	CTCF	chr3:90231777-90231993	GM10248	blood:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
9	CTCF	chr3:90231720-90232049	HUVEC	blood vessel:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
10	CTCF	chr3:90231680-90231830	HFF-Myc	foreskin:	n/a	n/a
11	CTCF	chr3:90232017-90232085	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr3:90231900-90232050	NHDF-neo	bronchial:	n/a	n/a
13	CTCF	chr3:90231660-90231810	HMF	breast:	n/a	n/a
14	CTCF	chr3:90231640-90231790	HVMF	connective:	n/a	n/a
15	CTCF	chr3:90231640-90231790	GM12867	blood:	n/a	n/a
16	CTCF	chr3:90231880-90232030	MCF-7	breast:	n/a	n/a
17	CTCF	chr3:90231760-90231910	HRPEpiC	eye:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
18	CTCF	chr3:90231780-90231930	Caco-2	colon:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
19	CTCF	chr3:90231745-90231997	Hela-S3	cervix:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
20	CTCF	chr3:90231780-90231930	SK-N-SH_RA	brain:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
21	CTCF	chr3:90231660-90231810	AG04450	lung:	n/a	n/a
22	CTCF	chr3:90231800-90231950	AoAF	blood vessel:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
23	CTCF	chr3:90231660-90231810	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr3:90231752-90232003	Kidney_OC	kidney:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
25	CTCF	chr3:90231860-90232010	GM12868	blood:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
26	CTCF	chr3:90231760-90231910	HPAF	blood vessel:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
27	CTCF	chr3:90231760-90231910	GM12865	blood:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
28	CTCF	chr3:90231705-90231986	Gliobla	brain:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
29	CTCF	chr3:90231660-90231810	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr3:90231759-90231991	GM10266	blood:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
31	CTCF	chr3:90231760-90231910	AG09319	gingival:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
32	CTCF	chr3:90231428-90232156	SK-N-SH	brain:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
33	CTCF	chr3:90231880-90232030	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr3:90231708-90231999	GM12878	blood:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
35	CTCF	chr3:90231860-90232010	NHLF	lung:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
36	CTCF	chr3:90231660-90231810	GM12868	blood:	n/a	n/a
37	CTCF	chr3:90231660-90231810	HAc	cerebellar:	n/a	n/a
38	CTCF	chr3:90231660-90231810	BE2_C	brain:	n/a	n/a
39	CTCF	chr3:90231717-90231935	A549	lung:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
40	CTCF	chr3:90231713-90231894	GM19238	blood:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
41	CTCF	chr3:90231880-90232030	HMEC	breast:	n/a	n/a
42	CTCF	chr3:90231660-90231810	HA-sp	spinal cord:	n/a	n/a
43	CTCF	chr3:90231840-90231990	GM12870	blood:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
44	CTCF	chr3:90231880-90232030	GM12871	blood:	n/a	n/a
45	CTCF	chr3:90231820-90231970	Hela-S3	cervix:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
46	CTCF	chr3:90231736-90231895	MCF-7	breast:	n/a	chr3:90231860-90231881 chr3:90231865-90231883
47	CTCF	chr3:90231680-90231830	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr3:90231660-90231810	RPTEC	kidney:	n/a	n/a
49	CTCF	chr3:90231660-90231810	NHDF-neo	bronchial:	n/a	n/a
50	CTCF	chr3:90231860-90232010	HCT-116	colon:	n/a	chr3:90231860-90231881 chr3:90231865-90231883

Variant related genes	Relation type
RNU6-712P	TF binding region

Extended variants
information (count: 1255 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1255 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555638585	chr3:90202299-90202300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200626546	chr3:90202410-90202411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374732780	chr3:90202423-90202424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572309924	chr3:90202433-90202434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572800555	chr3:90202444-90202445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541407140	chr3:90202449-90202450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564371039	chr3:90202478-90202479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533443930	chr3:90202508-90202509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79233459	chr3:90202518-90202519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368814044	chr3:90202538-90202539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543967268	chr3:90202552-90202553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563836936	chr3:90202576-90202577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12633831	chr3:90202584-90202585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139431817	chr3:90202606-90202607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545012316	chr3:90202607-90202608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549363682	chr3:90202608-90202609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188441316	chr3:90202739-90202740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528821184	chr3:90202740-90202741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567454975	chr3:90202755-90202756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547363311	chr3:90202790-90202791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180867627	chr3:90202797-90202798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561640974	chr3:90202899-90202900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528911610	chr3:90202904-90202905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186445375	chr3:90202911-90202912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75741064	chr3:90202921-90202922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147586701	chr3:90202971-90202972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373468997	chr3:90202977-90202978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535278710	chr3:90203021-90203022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539016174	chr3:90203033-90203034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142023741	chr3:90203051-90203052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572302005	chr3:90203096-90203097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534638556	chr3:90203126-90203127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144311731	chr3:90203131-90203132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562305751	chr3:90203137-90203138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578080458	chr3:90203175-90203176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532943422	chr3:90203195-90203196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151083097	chr3:90203212-90203213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551412942	chr3:90203232-90203233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563772675	chr3:90203243-90203244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574242392	chr3:90203331-90203332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543194867	chr3:90203332-90203333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566753778	chr3:90203347-90203348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559740930	chr3:90203361-90203362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75572617	chr3:90203406-90203407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76811450	chr3:90203407-90203408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528769113	chr3:90203416-90203417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28541603	chr3:90203422-90203423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533978107	chr3:90203436-90203437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551805770	chr3:90203473-90203474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563713478	chr3:90203474-90203475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Soft tissue tumor	16732325	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:90176800-90211400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:90194800-90205200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:90200200-90207600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:90207600-90208600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:90208600-90209600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:90209600-90212200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:90212200-90213000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:90213000-90213800	Enhancers	Fetal Lung	lung
9	chr3:90213000-90214200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:90214200-90214400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:90214400-90215000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:90215000-90225400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:90225400-90226400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:90226400-90228800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:90229600-90230200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:90230000-90230200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:90230200-90233400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:90230400-90230600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:90230600-90231600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:90231600-90231800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:90231600-90231800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:90231600-90231800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:90231600-90231800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr3:90231600-90231800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:90231600-90231800	Enhancers	Adipose Nuclei	Adipose
26	chr3:90231600-90231800	Enhancers	Liver	Liver
27	chr3:90231600-90231800	Enhancers	Brain Cingulate Gyrus	brain
28	chr3:90231600-90231800	Enhancers	Esophagus	oesophagus
29	chr3:90231600-90231800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
30	chr3:90231600-90231800	Enhancers	Fetal Muscle Trunk	muscle
31	chr3:90231600-90231800	Enhancers	Fetal Muscle Leg	muscle
32	chr3:90231600-90231800	Enhancers	Gastric	stomach
33	chr3:90231600-90231800	Enhancers	Left Ventricle	heart
34	chr3:90231600-90231800	Enhancers	Ovary	ovary
35	chr3:90231600-90231800	Enhancers	Pancreas	Pancrea
36	chr3:90231600-90231800	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr3:90231600-90231800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr3:90231600-90231800	Enhancers	Right Atrium	heart
39	chr3:90231600-90231800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr3:90231600-90231800	Enhancers	NHDF-Ad	bronchial
41	chr3:90231600-90232000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:90231600-90232000	Active TSS	Primary hematopoietic stem cells	blood
43	chr3:90231600-90232000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:90231600-90232000	Active TSS	Stomach Smooth Muscle	stomach
45	chr3:90231600-90232000	Active TSS	Osteobl	bone
46	chr3:90231600-90232200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr3:90231800-90232000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:90231800-90233600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:90231800-90234000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:90232000-90233800	Weak transcription	Osteobl	bone

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