Variant report

Variant	nsv980685
Chromosome Location	chr5:74669881-74670738
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	chr5:74669706-74670670	HepG2	liver:	n/a	n/a
2	BHLHE40	chr5:74670215-74670528	HepG2	liver:	n/a	n/a
3	BHLHE40	chr5:74669765-74670604	HepG2	liver:	n/a	n/a
4	BHLHE40	chr5:74670189-74670530	HepG2	liver:	n/a	n/a
5	CEBPB	chr5:74669699-74670068	HepG2	liver:	n/a	n/a
6	CEBPB	chr5:74670504-74670541	K562	blood:	n/a	chr5:74670514-74670525
7	CEBPB	chr5:74670343-74670685	HepG2	liver:	n/a	chr5:74670514-74670525
8	CEBPB	chr5:74670274-74670718	HepG2	liver:	n/a	chr5:74670514-74670525
9	CEBPB	chr5:74670404-74670578	HepG2	liver:	n/a	chr5:74670514-74670525
10	CEBPB	chr5:74670284-74670592	HepG2	liver:	n/a	chr5:74670514-74670525
11	CTCF	chr5:74670635-74670695	LNCaP	prostate:	n/a	n/a
12	EP300	chr5:74670202-74670582	HepG2	liver:	n/a	n/a
13	EP300	chr5:74670244-74670618	HepG2	liver:	n/a	n/a
14	EP300	chr5:74669819-74670564	HepG2	liver:	n/a	n/a
15	FOXA1	chr5:74669645-74670121	HepG2	liver:	n/a	n/a
16	FOXA1	chr5:74669753-74670074	HepG2	liver:	n/a	n/a
17	FOXA1	chr5:74670184-74670619	HepG2	liver:	n/a	n/a
18	FOXA1	chr5:74669749-74670011	HepG2	liver:	n/a	n/a
19	FOXA1	chr5:74669724-74670083	HepG2	liver:	n/a	n/a
20	FOXA1	chr5:74670203-74670553	HepG2	liver:	n/a	n/a
21	FOXA1	chr5:74670165-74670584	HepG2	liver:	n/a	n/a
22	FOXA2	chr5:74669763-74669987	HepG2	liver:	n/a	n/a
23	FOXA2	chr5:74670250-74670512	HepG2	liver:	n/a	n/a
24	GATA3	chr5:74669709-74670167	SH-SY5Y	brain:	n/a	n/a
25	JUND	chr5:74670383-74670574	HepG2	liver:	n/a	n/a
26	MAFF	chr5:74669683-74669999	HepG2	liver:	n/a	chr5:74669808-74669826
27	MAFK	chr5:74669689-74670006	HepG2	liver:	n/a	chr5:74669810-74669825
28	MAFK	chr5:74669638-74670003	HepG2	liver:	n/a	chr5:74669810-74669825
29	MAX	chr5:74669953-74670502	HepG2	liver:	n/a	n/a
30	MAX	chr5:74670215-74670577	HepG2	liver:	n/a	n/a
31	MAX	chr5:74670091-74670636	HepG2	liver:	n/a	n/a
32	MAZ	chr5:74670341-74670492	HepG2	liver:	n/a	n/a
33	MXI1	chr5:74670221-74670527	HepG2	liver:	n/a	n/a
34	MXI1	chr5:74669829-74670003	HepG2	liver:	n/a	n/a
35	NFIC	chr5:74670198-74670581	HepG2	liver:	n/a	n/a
36	NR2F2	chr5:74670176-74670645	HepG2	liver:	n/a	n/a
37	POLR2A	chr5:74669712-74670542	HepG2	liver:	n/a	n/a
38	SMC3	chr5:74670346-74670595	HepG2	liver:	n/a	n/a
39	SP1	chr5:74670225-74670642	HepG2	liver:	n/a	n/a
40	TBP	chr5:74670347-74670447	HepG2	liver:	n/a	n/a
41	TCF7L2	chr5:74670220-74670649	HCT-116	colon:	n/a	n/a
42	TCF7L2	chr5:74669804-74670898	HepG2	liver:	n/a	n/a
43	USF2	chr5:74670234-74670439	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74631027..74633689-chr5:74669899..74673257,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMGCR-2	chr5:74670288-74670634	NONHSAT102207

Variant related genes	Relation type
ENSG00000242198	TF binding region
COL4A3BP	TF binding region
ENSG00000247372	chromatin interactions
ENSG00000113161	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 87 )

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	rs573152762	chr5:74669927-74669928	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs538703333	chr5:74669942-74669943	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs545323650	chr5:74669961-74669962	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs558900603	chr5:74670004-74670005	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs151083220	chr5:74670008-74670009	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs191208728	chr5:74670022-74670023	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs369498789	chr5:74670042-74670043	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs141030242	chr5:74670071-74670072	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs190252577	chr5:74670074-74670075	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs559109847	chr5:74670123-74670124	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs574935352	chr5:74670140-74670141	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs182326566	chr5:74670188-74670189	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs528849601	chr5:74670243-74670244	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs540415013	chr5:74670253-74670254	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs544935560	chr5:74670256-74670257	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs184801574	chr5:74670303-74670304	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs145788600	chr5:74670328-74670329	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs150118958	chr5:74670339-74670340	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs564850636	chr5:74670344-74670345	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs530539318	chr5:74670358-74670359	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs528922804	chr5:74670405-74670406	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs567351020	chr5:74670410-74670411	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs58519566	chr5:74670429-74670430	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs559220214	chr5:74670449-74670450	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs566693692	chr5:74670450-74670451	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs10515197	chr5:74670454-74670455	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs79342205	chr5:74670491-74670492	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs569206011	chr5:74670512-74670513	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs73118890	chr5:74670551-74670552	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188143860	chr5:74670569-74670570	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs551145289	chr5:74670594-74670595	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs540473153	chr5:74670675-74670676	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs138701565	chr5:74670726-74670727	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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	22355333	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74656400-74670400	Weak transcription	Right Ventricle	heart
2	chr5:74656400-74673600	Weak transcription	Psoas Muscle	Psoas
3	chr5:74656400-74673600	Weak transcription	Small Intestine	intestine
4	chr5:74656400-74673600	Weak transcription	Spleen	Spleen
5	chr5:74656400-74674000	Weak transcription	Brain Germinal Matrix	brain
6	chr5:74656400-74674800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr5:74656400-74674800	Weak transcription	Brain Substantia Nigra	brain
8	chr5:74656400-74676800	Weak transcription	Fetal Brain Male	brain
9	chr5:74656400-74687200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:74656400-74725600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:74656600-74670600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr5:74656600-74675600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:74656600-74675800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:74656600-74675800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:74656600-74676800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr5:74656600-74677200	Weak transcription	Aorta	Aorta
17	chr5:74656600-74694800	Weak transcription	Brain Angular Gyrus	brain
18	chr5:74656800-74670200	Weak transcription	HepG2	liver
19	chr5:74656800-74670400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:74656800-74676200	Weak transcription	Colonic Mucosa	Colon
21	chr5:74656800-74731400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:74657400-74674800	Weak transcription	A549	lung
23	chr5:74657600-74673600	Weak transcription	Lung	lung
24	chr5:74657800-74708000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:74658000-74674800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:74658400-74673200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:74658600-74673200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:74658600-74674800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr5:74658600-74674800	Weak transcription	Fetal Kidney	kidney
30	chr5:74659000-74674600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:74659200-74670200	Weak transcription	Fetal Intestine Small	intestine
32	chr5:74659200-74674800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:74659600-74673600	Weak transcription	Esophagus	oesophagus
34	chr5:74659600-74673600	Weak transcription	Gastric	stomach
35	chr5:74659600-74675800	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:74659800-74670200	Weak transcription	Fetal Stomach	stomach
37	chr5:74659800-74673600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:74659800-74677000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:74659800-74684800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr5:74659800-74720600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:74660000-74670000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr5:74660000-74670200	Weak transcription	Pancreas	Pancrea
43	chr5:74660000-74674600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr5:74660000-74722800	Weak transcription	Fetal Heart	heart
45	chr5:74660200-74673600	Weak transcription	Fetal Muscle Leg	muscle
46	chr5:74660200-74707800	Weak transcription	Stomach Mucosa	stomach
47	chr5:74660400-74670400	Weak transcription	HMEC	breast
48	chr5:74660400-74673600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:74661800-74683600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:74663200-74670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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