Variant report

Variant	nsv946080
Chromosome Location	chr1:93656370-93657400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:93656959-93657021	GM12878	blood:	n/a	n/a
2	CTCF	chr1:93656920-93657070	HFF	foreskin:	n/a	n/a
3	CTCF	chr1:93656840-93656990	HRPEpiC	eye:	n/a	n/a
4	CTCF	chr1:93656952-93656981	ProgFib	skin:	n/a	n/a
5	CTCF	chr1:93656880-93657030	HMF	breast:	n/a	n/a
6	CTCF	chr1:93656920-93657070	AG04449	skin:	n/a	n/a
7	CTCF	chr1:93656900-93657050	AG09319	gingival:	n/a	n/a
8	CTCF	chr1:93656900-93657050	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr1:93656931-93657036	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr1:93656860-93657010	HPF	lung:	n/a	n/a
11	CTCF	chr1:93656840-93656990	RPTEC	kidney:	n/a	n/a
12	CTCF	chr1:93656976-93657015	GM12878	blood:	n/a	n/a
13	CTCF	chr1:93656780-93656930	GM12873	blood:	n/a	n/a
14	POLR2A	chr1:93656546-93656595	Gliobla	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93645541..93647091-chr1:93656418..93658733,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMED5-4	chr1:93656297-93656617	NONHSAT004486

No data

Variant related genes	Relation type
ENSG00000237003	TF binding region
ENSG00000117500	chromatin interactions
ENSG00000122483	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555406115	chr1:93656474-93656475	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs79611695	chr1:93656495-93656496	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs535762213	chr1:93656499-93656500	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs113762687	chr1:93656500-93656501	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs575721386	chr1:93656520-93656521	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs539660937	chr1:93656521-93656522	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs7541687	chr1:93656588-93656589	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs140378550	chr1:93656646-93656647	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs536043542	chr1:93656647-93656648	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs199624164	chr1:93656663-93656664	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs148591651	chr1:93656684-93656685	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs540378197	chr1:93656712-93656713	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191245728	chr1:93656716-93656717	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs574015464	chr1:93656772-93656773	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs199697399	chr1:93656807-93656808	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs544155109	chr1:93656822-93656823	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs183743702	chr1:93656828-93656829	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs532946817	chr1:93656879-93656880	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs551925425	chr1:93656942-93656943	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs560242157	chr1:93657005-93657006	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs142958589	chr1:93657029-93657030	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs71652528	chr1:93657035-93657036	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs374384985	chr1:93657038-93657039	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs374227089	chr1:93657057-93657058	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs567134464	chr1:93657129-93657130	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs537870384	chr1:93657156-93657157	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs370628145	chr1:93657168-93657169	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs140685903	chr1:93657209-93657210	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs188699728	chr1:93657210-93657211	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs557929533	chr1:93657235-93657236	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs374060478	chr1:93657236-93657237	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs35516125	chr1:93657383-93657384	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs368109939	chr1:93657398-93657399	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93646600-93660400	Weak transcription	Lung	lung
2	chr1:93646800-93664600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:93647000-93663600	Weak transcription	Fetal Stomach	stomach
4	chr1:93647000-93664600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:93647000-93688000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:93647000-93688600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:93647000-93756400	Weak transcription	Gastric	stomach
8	chr1:93647200-93657600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:93647200-93658000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:93647200-93660400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:93647200-93660400	Weak transcription	Thymus	Thymus
12	chr1:93647200-93660800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:93647200-93661400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:93647200-93664200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:93647200-93664200	Weak transcription	Fetal Intestine Small	intestine
16	chr1:93647200-93664400	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:93647200-93664600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:93647200-93664600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:93647200-93667600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:93647200-93667600	Weak transcription	Adipose Nuclei	Adipose
21	chr1:93647200-93668200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:93647200-93681200	Weak transcription	HUVEC	blood vessel
23	chr1:93647200-93684400	Weak transcription	NH-A	brain
24	chr1:93647200-93685000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:93647200-93707400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:93647200-93757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:93647400-93659000	Weak transcription	HSMM	muscle
28	chr1:93647400-93661000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:93647400-93664800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:93647400-93667400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:93647600-93657600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:93647600-93657800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:93647600-93660400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr1:93647600-93664400	Weak transcription	NHLF	lung
35	chr1:93647600-93670400	Weak transcription	Liver	Liver
36	chr1:93647600-93706600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:93647800-93660400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:93647800-93665000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:93647800-93667800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:93648000-93657600	Weak transcription	Osteobl	bone
41	chr1:93648000-93658000	Weak transcription	Primary T cells from cord blood	blood
42	chr1:93648000-93660000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:93648200-93656400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:93648200-93660400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:93648400-93672200	Weak transcription	A549	lung
46	chr1:93648600-93666000	Weak transcription	NHEK	skin
47	chr1:93648800-93662200	Weak transcription	Hela-S3	cervix
48	chr1:93649000-93684800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:93650000-93666000	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:93651000-93656800	Weak transcription	K562	blood

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