Variant report

Variant	nsv980686
Chromosome Location	chr5:75671882-75674932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:75672120-75672210	GM19240	blood:	n/a	n/a
2	CTCF	chr5:75672116-75672243	GM12891	blood:	n/a	n/a
3	CTCF	chr5:75672022-75672310	GM12878	blood:	n/a	n/a
4	CTCF	chr5:75672128-75672223	GM19239	blood:	n/a	n/a
5	CTCF	chr5:75672180-75672183	GM12878	blood:	n/a	n/a
6	CTCF	chr5:75672145-75672203	GM12892	blood:	n/a	n/a
7	CTCF	chr5:75672115-75672229	GM19238	blood:	n/a	n/a
8	CTCF	chr5:75672425-75672649	T-47D	breast:	n/a	n/a
9	CTCF	chr5:75672162-75672169	GM12878	blood:	n/a	n/a
10	CTCF	chr5:75672016-75672228	K562	blood:	n/a	n/a
11	FOS	chr5:75672523-75672578	MCF10A-Er-Src	breast:	n/a	n/a
12	GATA1	chr5:75672477-75673216	PBDE	blood:	n/a	n/a
13	JUN	chr5:75674227-75674397	HepG2	liver:	n/a	chr5:75674358-75674371
14	JUND	chr5:75674230-75674493	HepG2	liver:	n/a	n/a
15	RAD21	chr5:75672075-75672274	HepG2	liver:	n/a	n/a
16	TAL1	chr5:75672906-75672978	K562	blood:	n/a	n/a
17	USF2	chr5:75672492-75672514	HepG2	liver:	n/a	n/a
18	ZNF263	chr5:75674862-75675360	HEK293-T-REx	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:75672467-75672517	HRPEpiC	eye:	n/a
2	chr5:75672467-75672517	Hela-S3	cervix:	n/a
3	chr5:75672467-75672517	AG04450	lung:	fetal
4	chr5:75672467-75672517	GM19239	blood:	n/a
5	chr5:75672467-75672517	GM12891	blood:	n/a
6	chr5:75672467-75672517	SKMC	muscle:	n/a
7	chr5:75672467-75672517	HepG2	liver:	n/a
8	chr5:75672467-75672517	PANC-1	pancreas:	n/a
9	chr5:75672467-75672517	SAEC	small airway:	n/a
10	chr5:75672467-75672517	NT2-D1	testis:	n/a
11	chr5:75672467-75672517	HCF	heart:	n/a
12	chr5:75672467-75672517	HRE	kidney:	n/a
13	chr5:75672467-75672517	NB4	blood:	n/a
14	chr5:75672467-75672517	NH-A	brain:	n/a
15	chr5:75672467-75672517	T-47D	breast:	n/a
16	chr5:75672467-75672517	NHBE	bronchial:	n/a
17	chr5:75672467-75672517	SK-N-SH_RA	brain:	n/a
18	chr5:75672467-75672517	SK-N-MC	brain:	n/a
19	chr5:75672467-75672517	HCT-116	colon:	n/a
20	chr5:75672467-75672517	HPAEpiC	pulmonary alveolar:	n/a
21	chr5:75672467-75672517	HIPEpiC	eye:	n/a
22	chr5:75672467-75672517	CMK	blood:	n/a
23	chr5:75672467-75672517	HRCEpiC	kidney:	n/a
24	chr5:75672467-75672517	MCF-7	breast:	n/a
25	chr5:75672467-75672517	HUVEC	blood vessel:	n/a
26	chr5:75672467-75672517	HAEpiC	amniotic membrane:	n/a
27	chr5:75672467-75672517	U87	brain:	n/a
28	chr5:75672467-75672517	HL-60	blood:	n/a
29	chr5:75672467-75672517	RPTEC	kidney:	n/a
30	chr5:75672467-75672517	BE2_C	brain:	n/a
31	chr5:75672467-75672517	BJ	skin:	n/a
32	chr5:75672467-75672517	SK-N-SH	brain:	n/a
33	chr5:75672467-75672517	AG04449	skin:	fetal
34	chr5:75672467-75672517	LNCaP	prostate:	n/a
35	chr5:75672467-75672517	ECC-1	luminal epithelium:	n/a
36	chr5:75672467-75672517	GM12878	blood:	n/a
37	chr5:75672467-75672517	A549	lung:	n/a
38	chr5:75672467-75672517	ProgFib	skin:	n/a
39	chr5:75672467-75672517	AG09309	skin:	n/a
40	chr5:75672467-75672517	AG09319	gingival:	n/a
41	chr5:75672467-75672517	HCM	heart:	n/a
42	chr5:75672467-75672517	PrEC	prostate:	n/a
43	chr5:75672467-75672517	Hepatocyte	liver:	n/a
44	chr5:75672467-75672517	GM06990	blood:	n/a
45	chr5:75672467-75672517	HMEC	breast:	n/a
46	chr5:75672467-75672517	Jurkat	blood:	n/a
47	chr5:75672467-75672517	H1-hESC	embryonic stem cell:	embryo
48	chr5:75672467-75672517	HEK293	kidney:	embryo
49	chr5:75672467-75672517	HCPEpiC	choroid plexus:	n/a
50	chr5:75672467-75672517	IMR90	lung:	fetal

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:75670460..75672196-chr5:75679866..75681597,2	MCF-7	breast:
2	chr5:75669499..75672050-chr5:75695299..75697873,2	MCF-7	breast:
3	chr5:75667400..75670922-chr5:75672523..75674364,4	K562	blood:
4	chr5:75673917..75676615-chr5:75683010..75685997,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SV2C-3	chr5:75673230-75673769	l_2950_chr5:75666377-75674359_testes
2	lnc-SV2C-3	chr5:75673917-75674359	l_2950_chr5:75666377-75674359_testes

No data

Variant related genes	Relation type
ENSG00000251235	TF binding region
ENSG00000251235	CpG island

Extended variants
information (count: 154 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371272368	chr5:75671887-75671888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75196339	chr5:75671902-75671903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554601376	chr5:75671905-75671906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574114569	chr5:75671911-75671912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372358484	chr5:75672067-75672068	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs548254035	chr5:75672095-75672096	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs539805257	chr5:75672119-75672120	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs560048036	chr5:75672149-75672150	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs541460235	chr5:75672189-75672190	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs183041578	chr5:75672218-75672219	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs536697232	chr5:75672283-75672284	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs546028421	chr5:75672325-75672326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562536333	chr5:75672330-75672331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531494377	chr5:75672370-75672371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570317026	chr5:75672374-75672375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34824732	chr5:75672392-75672393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548398345	chr5:75672411-75672412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562136404	chr5:75672442-75672443	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs35839426	chr5:75672467-75672468	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs547797944	chr5:75672468-75672469	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs7704494	chr5:75672477-75672478	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs7704498	chr5:75672484-75672485	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs375254867	chr5:75672514-75672515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73764366	chr5:75672518-75672519	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550081456	chr5:75672544-75672545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570156896	chr5:75672553-75672554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536017877	chr5:75672554-75672555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554381737	chr5:75672559-75672560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574176858	chr5:75672580-75672581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533567810	chr5:75672626-75672627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553351973	chr5:75672636-75672637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576769970	chr5:75672648-75672649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535248587	chr5:75672666-75672667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201509128	chr5:75672675-75672676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545790261	chr5:75672677-75672678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374738407	chr5:75672678-75672679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562757222	chr5:75672684-75672685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576179768	chr5:75672717-75672718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541974448	chr5:75672721-75672722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373103199	chr5:75672722-75672723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562199453	chr5:75672724-75672725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367724608	chr5:75672738-75672739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541477673	chr5:75672762-75672763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564480589	chr5:75672772-75672773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4703706	chr5:75672800-75672801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs186161193	chr5:75672806-75672807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572906306	chr5:75672844-75672845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377274658	chr5:75672851-75672852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529494611	chr5:75672870-75672871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549142346	chr5:75672879-75672880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75668600-75676600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:75668800-75676400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:75669000-75672000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:75669000-75672200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:75669000-75672600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:75669000-75672800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:75669000-75676400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:75669000-75676400	Weak transcription	Placenta	Placenta
9	chr5:75669000-75676800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:75669000-75682400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:75669200-75672200	Weak transcription	A549	lung
12	chr5:75669200-75672600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:75669800-75672400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:75670800-75672400	Enhancers	Primary hematopoietic stem cells	blood
15	chr5:75670800-75672400	Enhancers	HepG2	liver
16	chr5:75670800-75673200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:75671400-75673000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:75671400-75673000	Enhancers	K562	blood
19	chr5:75671600-75673000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr5:75671800-75672600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:75672000-75672800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:75672200-75672400	Enhancers	A549	lung
23	chr5:75672200-75672800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:75672200-75673000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:75672400-75672800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:75672400-75674200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr5:75672400-75674400	Weak transcription	HepG2	liver
28	chr5:75672600-75672800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:75672600-75673000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:75672600-75675000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:75672800-75673000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:75672800-75676200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:75672800-75676400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:75673000-75674000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr5:75673000-75674000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:75673000-75676000	Weak transcription	K562	blood
37	chr5:75673200-75674200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:75673400-75673800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:75673800-75674000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:75674000-75674200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:75674000-75677400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr5:75674200-75674600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:75674200-75676200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:75674200-75677200	Enhancers	Primary hematopoietic stem cells	blood
45	chr5:75674200-75677200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:75674400-75674800	Enhancers	HepG2	liver
47	chr5:75674600-75675000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:75674600-75677000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr5:75674800-75675000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr5:75674800-75675400	Enhancers	Primary T cells fromperipheralblood	blood

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