Variant report

Variant	nsv1027347
Chromosome Location	chr5:101473175-101522225
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	chr5:101489024-101489385	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:101473945-101474313	HepG2	liver:	n/a	n/a
3	BHLHE40	chr5:101473978-101474432	HepG2	liver:	n/a	n/a
4	CCNT2	chr5:101518922-101519122	K562	blood:	n/a	n/a
5	CEBPB	chr5:101474093-101474484	HepG2	liver:	n/a	chr5:101474303-101474316 chr5:101474305-101474316 chr5:101474303-101474316 chr5:101474303-101474314 chr5:101474303-101474316
6	CEBPB	chr5:101506875-101507212	HepG2	liver:	n/a	n/a
7	CEBPB	chr5:101506879-101507168	A549	lung:	n/a	n/a
8	CEBPB	chr5:101474018-101474486	HepG2	liver:	n/a	chr5:101474303-101474316 chr5:101474305-101474316 chr5:101474303-101474316 chr5:101474303-101474314 chr5:101474303-101474316
9	CEBPB	chr5:101492747-101492947	HepG2	liver:	n/a	n/a
10	CEBPB	chr5:101474058-101474421	HepG2	liver:	n/a	chr5:101474303-101474316 chr5:101474305-101474316 chr5:101474303-101474316 chr5:101474303-101474314 chr5:101474303-101474316
11	CEBPB	chr5:101474104-101474393	HepG2	liver:	n/a	chr5:101474303-101474316 chr5:101474305-101474316 chr5:101474303-101474316 chr5:101474303-101474314 chr5:101474303-101474316
12	CEBPD	chr5:101474112-101474400	HepG2	liver:	n/a	n/a
13	CEBPD	chr5:101474086-101474325	HepG2	liver:	n/a	n/a
14	CTCF	chr5:101488883-101489529	HCT-116	colon:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
15	CTCF	chr5:101488840-101488990	GM12871	blood:	n/a	n/a
16	CTCF	chr5:101489300-101489450	GM12868	blood:	n/a	n/a
17	CTCF	chr5:101489162-101489352	GM20000	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
18	CTCF	chr5:101489140-101489290	HMF	breast:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
19	CTCF	chr5:101489051-101489296	A549	lung:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
20	CTCF	chr5:101489100-101489250	HRE	kidney:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
21	CTCF	chr5:101489160-101489310	GM12869	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
22	CTCF	chr5:101489100-101489250	GM06990	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
23	CTCF	chr5:101489160-101489310	GM12866	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
24	CTCF	chr5:101489028-101489379	T-47D	breast:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
25	CTCF	chr5:101489103-101489335	LNCaP	prostate:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
26	CTCF	chr5:101488984-101489362	ECC-1	luminal epithelium:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
27	CTCF	chr5:101489180-101489330	HFF	foreskin:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
28	CTCF	chr5:101489197-101489300	MCF-7	breast:	n/a	chr5:101489200-101489218 chr5:101489201-101489217
29	CTCF	chr5:101489100-101489250	AoAF	blood vessel:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
30	CTCF	chr5:101489100-101489250	GM12865	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
31	CTCF	chr5:101489160-101489310	GM12873	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
32	CTCF	chr5:101489201-101489289	Fibrobl	skin:	n/a	chr5:101489201-101489217
33	CTCF	chr5:101490880-101491030	HEK293	kidney:	n/a	n/a
34	CTCF	chr5:101489136-101489333	HepG2	liver:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
35	CTCF	chr5:101489460-101489610	GM12864	blood:	n/a	n/a
36	CTCF	chr5:101489120-101489270	HPF	lung:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
37	CTCF	chr5:101489160-101489310	GM12864	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
38	CTCF	chr5:101489100-101489250	GM12873	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
39	CTCF	chr5:101488996-101489613	GM12878	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
40	CTCF	chr5:101489120-101489270	GM12878	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
41	CTCF	chr5:101489120-101489270	GM12871	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
42	CTCF	chr5:101489140-101489290	HEEpiC	esophagus:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
43	CTCF	chr5:101489173-101489324	GM12892	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
44	CTCF	chr5:101489151-101489350	A549	lung:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
45	CTCF	chr5:101489200-101489350	GM12864	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217
46	CTCF	chr5:101489100-101489250	HCT-116	colon:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
47	CTCF	chr5:101489162-101489335	GM19238	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
48	CTCF	chr5:101489196-101489309	H1-hESC	embryonic stem cell:	n/a	chr5:101489200-101489218 chr5:101489201-101489217
49	CTCF	chr5:101489100-101489250	NHEK	skin:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
50	CTCF	chr5:101489200-101489350	GM12865	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217

No.	Distal block	Cell Line	Cell type
1	chr5:101476598..101478204-chr5:101481147..101483100,2	MCF-7	breast:
2	chr5:101476598..101478204-chr5:101481147..101483100,2	MCF-7	breast:
3	chr5:101277790..101278635-chr5:101488732..101489585,4	MCF-7	breast:
4	chr5:101277636..101278379-chr5:101489093..101489664,2	MCF-7	breast:
5	chr5:101475498..101477506-chr5:101479656..101481283,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAM-5	chr5:101482018-101482276	NONHSAT103022
2	lnc-PAM-5	chr5:101479780-101479847	NONHSAT103022
3	lnc-PAM-5	chr5:101482019-101482276	XLOC_004491
4	lnc-PAM-5	chr5:101479781-101479847	XLOC_004491

Variant related genes	Relation type
ENSG00000248261	TF binding region
ENSG00000248261	chromatin interactions

Extended variants
information (count: 924 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:924 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113703439	chr5:101473219-101473220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535962356	chr5:101473228-101473229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113262382	chr5:101473252-101473253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201309033	chr5:101473259-101473260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111684994	chr5:101473261-101473262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs71940959	chr5:101473262-101473263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34678098	chr5:101473263-101473264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs58482765	chr5:101473283-101473284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72776176	chr5:101473293-101473294	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs371823461	chr5:101473299-101473300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113796931	chr5:101473301-101473302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12153674	chr5:101473308-101473309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557750425	chr5:101473316-101473317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182089753	chr5:101473446-101473447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374769750	chr5:101473459-101473460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543205829	chr5:101473473-101473474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536689268	chr5:101473474-101473475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs59607678	chr5:101473504-101473505	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs60221980	chr5:101473542-101473543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28547431	chr5:101473583-101473584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573358210	chr5:101473600-101473601	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs554659537	chr5:101473615-101473616	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs369139841	chr5:101473639-101473640	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs114231985	chr5:101473640-101473641	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs532775949	chr5:101473645-101473646	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs576851034	chr5:101473671-101473672	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs186170248	chr5:101473693-101473694	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs191892036	chr5:101473701-101473702	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs537157509	chr5:101473711-101473712	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs532084126	chr5:101473827-101473828	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs144182770	chr5:101473903-101473904	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs568673000	chr5:101473906-101473907	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs535921101	chr5:101473928-101473929	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs547924044	chr5:101473960-101473961	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs566197089	chr5:101474025-101474026	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs539427306	chr5:101474031-101474032	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs545683568	chr5:101474075-101474076	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs558174099	chr5:101474094-101474095	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs3037939	chr5:101474100-101474101	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs548932453	chr5:101474107-101474108	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs80100771	chr5:101474115-101474116	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs35509922	chr5:101474117-101474118	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs372950010	chr5:101474135-101474136	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs576218588	chr5:101474138-101474139	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs536953280	chr5:101474169-101474170	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs450248	chr5:101474174-101474175	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs184173803	chr5:101474184-101474185	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs368340	chr5:101474223-101474224	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs654150	chr5:101474251-101474252	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs573517099	chr5:101474265-101474266	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	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
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101473200-101473600	Enhancers	HepG2	liver
2	chr5:101473600-101474200	Enhancers	Fetal Intestine Small	intestine
3	chr5:101473600-101474600	Flanking Active TSS	HepG2	liver
4	chr5:101474600-101476000	Enhancers	HepG2	liver
5	chr5:101475400-101475800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr5:101476000-101480800	Weak transcription	HepG2	liver
7	chr5:101477600-101477800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:101478000-101480000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:101480000-101481200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:101480600-101481000	Enhancers	Hela-S3	cervix
11	chr5:101480800-101481800	Enhancers	HepG2	liver
12	chr5:101481200-101488800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:101481800-101487600	Weak transcription	HepG2	liver
14	chr5:101487600-101489600	Enhancers	HepG2	liver
15	chr5:101488400-101488800	Enhancers	Fetal Intestine Large	intestine
16	chr5:101488800-101489000	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr5:101488800-101489000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr5:101488800-101489200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:101488800-101489200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:101488800-101489200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:101488800-101489200	Flanking Active TSS	Fetal Intestine Large	intestine
22	chr5:101488800-101489200	Enhancers	Fetal Kidney	kidney
23	chr5:101488800-101489400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr5:101488800-101489800	Enhancers	Fetal Intestine Small	intestine
25	chr5:101488800-101491200	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr5:101489000-101490400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:101489200-101489600	Enhancers	Fetal Intestine Large	intestine
28	chr5:101489200-101490400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:101489200-101490400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:101489400-101490400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:101489600-101490000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:101489600-101490200	Weak transcription	Fetal Intestine Large	intestine
33	chr5:101489800-101490200	Weak transcription	Fetal Intestine Small	intestine
34	chr5:101490000-101490400	Active TSS	Primary T cells from cord blood	blood
35	chr5:101490000-101491200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:101490200-101491200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:101490200-101491200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:101490200-101491200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:101490200-101491200	Active TSS	Fetal Intestine Large	intestine
40	chr5:101490200-101491200	Active TSS	Fetal Intestine Small	intestine
41	chr5:101490200-101491200	Active TSS	Stomach Smooth Muscle	stomach
42	chr5:101490400-101491000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:101490400-101491000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:101490400-101491000	Active TSS	Esophagus	oesophagus
45	chr5:101490400-101491000	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr5:101490400-101491200	Active TSS	H1 Cell Line	embryonic stem cell
47	chr5:101490400-101491200	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr5:101490400-101491200	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr5:101490400-101491200	Active TSS	Pancreas	Pancrea
50	chr5:101490400-101491200	Active TSS	Rectal Mucosa Donor 31	rectum

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