Variant report

Variant	nsv882507
Chromosome Location	chr5:101443953-101546639
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	chr5:101474018-101474486	HepG2	liver:	n/a	chr5:101474303-101474316 chr5:101474305-101474316 chr5:101474303-101474316 chr5:101474303-101474314 chr5:101474303-101474316
6	CEBPB	chr5:101506879-101507168	A549	lung:	n/a	n/a
7	CEBPB	chr5:101506875-101507212	HepG2	liver:	n/a	n/a
8	CEBPB	chr5:101474093-101474484	HepG2	liver:	n/a	chr5:101474303-101474316 chr5:101474305-101474316 chr5:101474303-101474316 chr5:101474303-101474314 chr5:101474303-101474316
9	CEBPB	chr5:101452184-101452476	HepG2	liver:	n/a	chr5:101452316-101452327
10	CEBPB	chr5:101474104-101474393	HepG2	liver:	n/a	chr5:101474303-101474316 chr5:101474305-101474316 chr5:101474303-101474316 chr5:101474303-101474314 chr5:101474303-101474316
11	CEBPB	chr5:101459346-101459437	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr5:101474058-101474421	HepG2	liver:	n/a	chr5:101474303-101474316 chr5:101474305-101474316 chr5:101474303-101474316 chr5:101474303-101474314 chr5:101474303-101474316
13	CEBPB	chr5:101492747-101492947	HepG2	liver:	n/a	n/a
14	CEBPD	chr5:101474112-101474400	HepG2	liver:	n/a	n/a
15	CEBPD	chr5:101474086-101474325	HepG2	liver:	n/a	n/a
16	CTCF	chr5:101489080-101489230	HMF	breast:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
17	CTCF	chr5:101489120-101489270	GM12871	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
18	CTCF	chr5:101489100-101489250	NHEK	skin:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
19	CTCF	chr5:101489160-101489310	GM12869	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
20	CTCF	chr5:101488840-101488990	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr5:101489100-101489250	RPTEC	kidney:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
22	CTCF	chr5:101489059-101489350	SK-N-SH_RA	brain:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
23	CTCF	chr5:101489120-101489270	GM12872	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
24	CTCF	chr5:101489150-101489309	GM13976	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
25	CTCF	chr5:101488800-101488950	GM12873	blood:	n/a	n/a
26	CTCF	chr5:101489120-101489270	NHLF	lung:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
27	CTCF	chr5:101489400-101489550	HAc	cerebellar:	n/a	n/a
28	CTCF	chr5:101489173-101489336	ProgFib	skin:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
29	CTCF	chr5:101489109-101489403	H1-hESC	embryonic stem cell:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
30	CTCF	chr5:101489160-101489310	HFF-Myc	foreskin:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
31	CTCF	chr5:101489200-101489350	HA-sp	spinal cord:	n/a	chr5:101489200-101489218 chr5:101489201-101489217
32	CTCF	chr5:101489067-101489333	GM12878	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
33	CTCF	chr5:101489140-101489290	HCFaa	heart:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
34	CTCF	chr5:101489180-101489330	NB4	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
35	CTCF	chr5:101489100-101489250	GM12875	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
36	CTCF	chr5:101489100-101489250	GM12873	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
37	CTCF	chr5:101489380-101489530	GM12869	blood:	n/a	n/a
38	CTCF	chr5:101539071-101539084	GM10248	blood:	n/a	n/a
39	CTCF	chr5:101489053-101489368	HepG2	liver:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
40	CTCF	chr5:101489173-101489324	GM12892	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
41	CTCF	chr5:101489136-101489333	HepG2	liver:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
42	CTCF	chr5:101489100-101489250	GM12865	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
43	CTCF	chr5:101489160-101489310	HBMEC	blood vessel:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
44	CTCF	chr5:101489100-101489250	BE2_C	brain:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
45	CTCF	chr5:101489160-101489310	WERI-Rb-1	eye:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
46	CTCF	chr5:101489081-101489355	Medullo	brain:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
47	CTCF	chr5:101489120-101489270	GM06990	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
48	CTCF	chr5:101489120-101489270	HEEpiC	esophagus:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
49	CTCF	chr5:101489121-101489308	LNCaP	prostate:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
50	CTCF	chr5:101489112-101489348	A549	lung:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216

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

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

Variant related genes	Relation type
ENSG00000248261	TF binding region
RNA5SP188	TF binding region
ENSG00000248261	chromatin interactions

Extended variants
information (count: 1234 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1234 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1351008	chr5:101443953-101443954	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183624288	chr5:101443961-101443962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187558071	chr5:101443996-101443997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77413602	chr5:101443998-101443999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563972668	chr5:101444003-101444004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532818641	chr5:101444015-101444016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373315357	chr5:101444040-101444041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569396049	chr5:101444041-101444042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555701192	chr5:101444079-101444080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575773585	chr5:101444088-101444089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145603380	chr5:101444169-101444170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535743366	chr5:101450200-101450201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs58894603	chr5:101450205-101450206	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs57022393	chr5:101450217-101450218	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540011667	chr5:101450227-101450228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368040769	chr5:101450245-101450246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147944386	chr5:101450246-101450247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188269079	chr5:101450254-101450255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552008641	chr5:101450296-101450297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574001017	chr5:101450313-101450314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191240278	chr5:101450321-101450322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116352625	chr5:101450324-101450325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141555809	chr5:101450348-101450349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115731714	chr5:101450359-101450360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147047102	chr5:101450384-101450385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74557129	chr5:101450412-101450413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553250819	chr5:101450423-101450424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs60714802	chr5:101450437-101450438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548687570	chr5:101450463-101450464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112517611	chr5:101450476-101450477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs151030425	chr5:101450488-101450489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141008371	chr5:101450490-101450491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566357284	chr5:101450492-101450493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34138709	chr5:101450505-101450506	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs558365835	chr5:101450506-101450507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150210188	chr5:101450507-101450508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576723230	chr5:101450510-101450511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184384012	chr5:101450516-101450517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7717142	chr5:101450531-101450532	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs190488633	chr5:101450534-101450535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573910062	chr5:101450537-101450538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182196379	chr5:101450558-101450559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6875966	chr5:101450564-101450565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559535877	chr5:101450590-101450591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142508041	chr5:101450643-101450644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544937002	chr5:101450655-101450656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186872988	chr5:101450666-101450667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77208443	chr5:101450675-101450676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536080912	chr5:101450676-101450677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1499610	chr5:101450694-101450695	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101439400-101444200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:101442000-101444200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:101450200-101450800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:101450400-101450800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:101450400-101450800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr5:101450400-101450800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:101450400-101450800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:101450400-101450800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:101450400-101450800	Enhancers	HepG2	liver
10	chr5:101450400-101451000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:101454200-101454600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:101466000-101466600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:101466000-101466600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:101466000-101467000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:101466400-101466800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:101466400-101467000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr5:101466400-101467200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:101466600-101467000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr5:101466600-101467000	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr5:101467000-101467200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr5:101473200-101473600	Enhancers	HepG2	liver
22	chr5:101473600-101474200	Enhancers	Fetal Intestine Small	intestine
23	chr5:101473600-101474600	Flanking Active TSS	HepG2	liver
24	chr5:101474600-101476000	Enhancers	HepG2	liver
25	chr5:101475400-101475800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr5:101476000-101480800	Weak transcription	HepG2	liver
27	chr5:101477600-101477800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:101478000-101480000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:101480000-101481200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:101480600-101481000	Enhancers	Hela-S3	cervix
31	chr5:101480800-101481800	Enhancers	HepG2	liver
32	chr5:101481200-101488800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:101481800-101487600	Weak transcription	HepG2	liver
34	chr5:101487600-101489600	Enhancers	HepG2	liver
35	chr5:101488400-101488800	Enhancers	Fetal Intestine Large	intestine
36	chr5:101488800-101489000	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr5:101488800-101489000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr5:101488800-101489200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr5:101488800-101489200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:101488800-101489200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr5:101488800-101489200	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr5:101488800-101489200	Enhancers	Fetal Kidney	kidney
43	chr5:101488800-101489400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr5:101488800-101489800	Enhancers	Fetal Intestine Small	intestine
45	chr5:101488800-101491200	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr5:101489000-101490400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr5:101489200-101489600	Enhancers	Fetal Intestine Large	intestine
48	chr5:101489200-101490400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:101489200-101490400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr5:101489400-101490400	Weak transcription	H1 Cell Line	embryonic stem cell

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