Variant report

Variant	nsv968210
Chromosome Location	chr5:74173768-74181141
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	chr5:74172998-74174476	HepG2	liver:	n/a	chr5:74173359-74173375
2	BHLHE40	chr5:74173641-74174153	HepG2	liver:	n/a	n/a
3	CEBPB	chr5:74173305-74173811	HepG2	liver:	n/a	n/a
4	CEBPB	chr5:74178850-74178855	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr5:74178910-74178951	H1-hESC	embryonic stem cell:	n/a	n/a
6	EP300	chr5:74180951-74181550	ECC-1	luminal epithelium:	n/a	chr5:74181048-74181062
7	EP300	chr5:74173264-74174284	HepG2	liver:	n/a	chr5:74174189-74174196 chr5:74173450-74173458
8	EP300	chr5:74173092-74174169	HepG2	liver:	n/a	chr5:74173450-74173458
9	EP300	chr5:74180979-74181519	ECC-1	luminal epithelium:	n/a	chr5:74181048-74181062
10	FOXA1	chr5:74173260-74173924	HepG2	liver:	n/a	n/a
11	FOXA1	chr5:74173516-74173846	HepG2	liver:	n/a	n/a
12	FOXA1	chr5:74173419-74173897	HepG2	liver:	n/a	n/a
13	FOXA1	chr5:74173211-74174188	HepG2	liver:	n/a	n/a
14	FOXA1	chr5:74173860-74174155	HepG2	liver:	n/a	n/a
15	FOXA1	chr5:74176163-74176643	HepG2	liver:	n/a	n/a
16	FOXA2	chr5:74173368-74173855	HepG2	liver:	n/a	n/a
17	HDAC2	chr5:74173301-74173899	HepG2	liver:	n/a	n/a
18	HDAC2	chr5:74173452-74174191	HepG2	liver:	n/a	n/a
19	HEY1	chr5:74173488-74173925	HepG2	liver:	n/a	n/a
20	HEY1	chr5:74173553-74173930	HepG2	liver:	n/a	n/a
21	HNF4A	chr5:74173419-74173854	HepG2	liver:	n/a	n/a
22	HNF4A	chr5:74173431-74173894	HepG2	liver:	n/a	n/a
23	HNF4G	chr5:74173474-74173856	HepG2	liver:	n/a	chr5:74173638-74173653
24	JUND	chr5:74178771-74178951	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAFK	chr5:74179834-74179988	HepG2	liver:	n/a	n/a
26	MAX	chr5:74173403-74174037	HepG2	liver:	n/a	n/a
27	MAZ	chr5:74174093-74174235	HepG2	liver:	n/a	n/a
28	MBD4	chr5:74173484-74173929	HepG2	liver:	n/a	n/a
29	MXI1	chr5:74173489-74173893	HepG2	liver:	n/a	n/a
30	MYBL2	chr5:74173115-74174112	HepG2	liver:	n/a	n/a
31	MYBL2	chr5:74173286-74174154	HepG2	liver:	n/a	n/a
32	MYC	chr5:74173974-74174096	MCF-7	breast:	n/a	n/a
33	NFIC	chr5:74180943-74181588	ECC-1	luminal epithelium:	n/a	n/a
34	NFIC	chr5:74173154-74174072	HepG2	liver:	n/a	chr5:74173601-74173618 chr5:74173602-74173619 chr5:74173591-74173619 chr5:74173603-74173619
35	NFIC	chr5:74173304-74174160	HepG2	liver:	n/a	chr5:74173601-74173618 chr5:74173602-74173619 chr5:74173591-74173619 chr5:74173603-74173619
36	NFIC	chr5:74173315-74173923	ECC-1	luminal epithelium:	n/a	chr5:74173601-74173618 chr5:74173602-74173619 chr5:74173591-74173619 chr5:74173603-74173619
37	NFIC	chr5:74180982-74181548	ECC-1	luminal epithelium:	n/a	n/a
38	NFIC	chr5:74173356-74173911	ECC-1	luminal epithelium:	n/a	chr5:74173601-74173618 chr5:74173602-74173619 chr5:74173591-74173619 chr5:74173603-74173619
39	NR2F2	chr5:74173324-74174199	HepG2	liver:	n/a	n/a
40	NR3C1	chr5:74181004-74181342	ECC-1	luminal epithelium:	n/a	n/a
41	NR3C1	chr5:74181010-74181273	ECC-1	luminal epithelium:	n/a	n/a
42	PAX5	chr5:74180992-74181409	GM12891	blood:	n/a	n/a
43	POLR2A	chr5:74178359-74178568	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr5:74178111-74178237	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr5:74178117-74179283	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr5:74173972-74174167	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr5:74178226-74178349	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr5:74178792-74178968	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr5:74178648-74179019	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr5:74178812-74178930	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000212363	TF binding region

Extended variants
information (count: 324 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77139221	chr5:74173798-74173799	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs540642337	chr5:74173818-74173819	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs563379995	chr5:74173822-74173823	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs557737776	chr5:74173833-74173834	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs145407304	chr5:74173849-74173850	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543105628	chr5:74173876-74173877	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs563091365	chr5:74173912-74173913	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs529034144	chr5:74173952-74173953	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs138876799	chr5:74173965-74173966	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs538574403	chr5:74173991-74173992	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs35984107	chr5:74174013-74174014	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs530495241	chr5:74174029-74174030	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs149369225	chr5:74174061-74174062	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs143696803	chr5:74174085-74174086	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs118078091	chr5:74174086-74174087	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs571605407	chr5:74174087-74174088	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs530972692	chr5:74174091-74174092	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs34055603	chr5:74174129-74174130	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs148095368	chr5:74174136-74174137	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs552357674	chr5:74174182-74174183	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs6864336	chr5:74174204-74174205	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs112920378	chr5:74174220-74174221	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs373537294	chr5:74174247-74174248	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs553553877	chr5:74174257-74174258	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs567006774	chr5:74174275-74174276	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs546888730	chr5:74174364-74174365	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs568392625	chr5:74174416-74174417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376696418	chr5:74174435-74174436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371902353	chr5:74174511-74174512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559028781	chr5:74174519-74174520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577217425	chr5:74174569-74174570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543044364	chr5:74174570-74174571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556625126	chr5:74174630-74174631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573421016	chr5:74174641-74174642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535829281	chr5:74174667-74174668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559506134	chr5:74174678-74174679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572991972	chr5:74174792-74174793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545282994	chr5:74174839-74174840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565205620	chr5:74174869-74174870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530911041	chr5:74174870-74174871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111652424	chr5:74174915-74174916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377235862	chr5:74174916-74174917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551009360	chr5:74174963-74174964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs71600442	chr5:74174992-74174993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35373379	chr5:74175036-74175037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561340049	chr5:74175054-74175055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530215884	chr5:74175169-74175170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147327500	chr5:74175182-74175183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371055976	chr5:74175191-74175192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542659252	chr5:74175194-74175195	Weak transcription Enhancers	n/a	n/a	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
Bladder cancer	21909424	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
Ovarian cancer	21720365	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
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74171800-74174800	Enhancers	Liver	Liver
2	chr5:74172000-74173800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:74172200-74173800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:74172200-74174000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:74172400-74173800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:74172400-74173800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:74172400-74174000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:74172600-74179200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:74173000-74173800	Enhancers	Brain Germinal Matrix	brain
10	chr5:74173000-74174000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:74173000-74174400	Flanking Active TSS	HepG2	liver
12	chr5:74173200-74174000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:74173200-74174400	Weak transcription	Brain Anterior Caudate	brain
14	chr5:74173200-74174600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:74173200-74174800	Enhancers	Brain Hippocampus Middle	brain
16	chr5:74173400-74173800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:74173400-74174600	Enhancers	Brain Cingulate Gyrus	brain
18	chr5:74173400-74175200	Enhancers	Brain Substantia Nigra	brain
19	chr5:74173600-74173800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:74173600-74173800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:74173600-74173800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr5:74173600-74174000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:74173600-74174000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:74173600-74174000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr5:74173600-74174200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr5:74173600-74174800	Enhancers	Brain Angular Gyrus	brain
27	chr5:74173600-74178400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr5:74173800-74174200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:74173800-74174200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:74173800-74174200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:74173800-74178200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:74173800-74178200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:74173800-74178400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:74173800-74179000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:74174000-74178200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:74174000-74178400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:74174000-74181000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:74174200-74174800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr5:74174400-74174800	Enhancers	Brain Anterior Caudate	brain
40	chr5:74174400-74176400	Enhancers	HepG2	liver
41	chr5:74174600-74174800	Enhancers	Fetal Brain Female	brain
42	chr5:74176400-74181000	Weak transcription	HepG2	liver
43	chr5:74178200-74178400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr5:74178200-74180000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr5:74178200-74180000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr5:74178200-74180200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:74178400-74178600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
48	chr5:74178400-74179000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr5:74178400-74179600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr5:74178400-74180000	Enhancers	HUES48 Cell Line	embryonic stem cell

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