Variant report

Variant	nsv1026566
Chromosome Location	chr5:101477116-101522225
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	CCNT2	chr5:101518922-101519122	K562	blood:	n/a	n/a
3	CEBPB	chr5:101492747-101492947	HepG2	liver:	n/a	n/a
4	CEBPB	chr5:101506875-101507212	HepG2	liver:	n/a	n/a
5	CEBPB	chr5:101506879-101507168	A549	lung:	n/a	n/a
6	CTCF	chr5:101489173-101489336	ProgFib	skin:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
7	CTCF	chr5:101489176-101489330	MCF-7	breast:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
8	CTCF	chr5:101489140-101489290	HCT-116	colon:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
9	CTCF	chr5:101489120-101489270	NHLF	lung:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
10	CTCF	chr5:101488883-101489529	HCT-116	colon:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
11	CTCF	chr5:101489120-101489270	GM12801	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
12	CTCF	chr5:101489180-101489330	MCF-7	breast:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
13	CTCF	chr5:101489480-101489630	HRPEpiC	eye:	n/a	n/a
14	CTCF	chr5:101488915-101489440	MCF-7	breast:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
15	CTCF	chr5:101489100-101489250	HRPEpiC	eye:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
16	CTCF	chr5:101489160-101489310	HAc	cerebellar:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
17	CTCF	chr5:101489036-101489303	Lung_OC	lung:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
18	CTCF	chr5:101489053-101489368	HepG2	liver:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
19	CTCF	chr5:101489120-101489270	MCF-7	breast:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
20	CTCF	chr5:101489134-101489306	GM10248	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
21	CTCF	chr5:101489140-101489290	GM12870	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
22	CTCF	chr5:101489120-101489270	GM12872	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
23	CTCF	chr5:101489120-101489270	HRPEpiC	eye:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
24	CTCF	chr5:101489140-101489290	GM12868	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
25	CTCF	chr5:101489125-101489290	K562	blood:	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	chr5:101489059-101489350	SK-N-SH_RA	brain:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
28	CTCF	chr5:101489160-101489310	HA-sp	spinal cord:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
29	CTCF	chr5:101489151-101489350	A549	lung:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
30	CTCF	chr5:101482338-101482366	Lung_OC	lung:	n/a	n/a
31	CTCF	chr5:101489196-101489319	GM12891	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217
32	CTCF	chr5:101489120-101489270	GM12874	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
33	CTCF	chr5:101488800-101488950	A549	lung:	n/a	n/a
34	CTCF	chr5:101489081-101489355	Medullo	brain:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
35	CTCF	chr5:101489400-101489550	HAc	cerebellar:	n/a	n/a
36	CTCF	chr5:101489100-101489250	RPTEC	kidney:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
37	CTCF	chr5:101488840-101488990	GM12871	blood:	n/a	n/a
38	CTCF	chr5:101489200-101489350	GM12865	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217
39	CTCF	chr5:101489169-101489332	GM19239	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
40	CTCF	chr5:101489088-101489295	Spleen_OC	spleen:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
41	CTCF	chr5:101489160-101489310	NHEK	skin:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
42	CTCF	chr5:101489100-101489250	HRE	kidney:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
43	CTCF	chr5:101489100-101489250	AG04450	lung:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
44	CTCF	chr5:101489380-101489530	GM12869	blood:	n/a	n/a
45	CTCF	chr5:101489120-101489270	GM06990	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
46	CTCF	chr5:101489300-101489450	GM12868	blood:	n/a	n/a
47	CTCF	chr5:101489140-101489290	GM12864	blood:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
48	CTCF	chr5:101489120-101489270	AG04450	lung:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
49	CTCF	chr5:101489120-101489270	BJ	skin:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216
50	CTCF	chr5:101489136-101489333	HepG2	liver:	n/a	chr5:101489200-101489218 chr5:101489201-101489217 chr5:101489195-101489216

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

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

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

Extended variants
information (count: 754 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:754 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540611368	chr5:101477117-101477118	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138500873	chr5:101477280-101477281	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs532410117	chr5:101477284-101477285	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs143056345	chr5:101477343-101477344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562805371	chr5:101477413-101477414	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529894054	chr5:101477441-101477442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs373041532	chr5:101477485-101477486	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548454739	chr5:101477487-101477488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566556218	chr5:101477507-101477508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs402111	chr5:101477539-101477540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs552106712	chr5:101477579-101477580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570372275	chr5:101477598-101477599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530247986	chr5:101477675-101477676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188432608	chr5:101477693-101477694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557213811	chr5:101477746-101477747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181283053	chr5:101477753-101477754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78832250	chr5:101477773-101477774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185879726	chr5:101477801-101477802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150622594	chr5:101477818-101477819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576131921	chr5:101477940-101477941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139684763	chr5:101477949-101477950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558878162	chr5:101477951-101477952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577295842	chr5:101477975-101477976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544646528	chr5:101477978-101477979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562770506	chr5:101477984-101477985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149382620	chr5:101477991-101477992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115744396	chr5:101478005-101478006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144707074	chr5:101478014-101478015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112430942	chr5:101478039-101478040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527350456	chr5:101478063-101478064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372623603	chr5:101478081-101478082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115785608	chr5:101478106-101478107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191177591	chr5:101478111-101478112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538849586	chr5:101478163-101478164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375484925	chr5:101478176-101478177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116176516	chr5:101478248-101478249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373882279	chr5:101478253-101478254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2895742	chr5:101478258-101478259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182088904	chr5:101478270-101478271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10455059	chr5:101478288-101478289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187196911	chr5:101478289-101478290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114838016	chr5:101478295-101478296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566969584	chr5:101478310-101478311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148666708	chr5:101478344-101478345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367799979	chr5:101478366-101478367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558761900	chr5:101478418-101478419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577460762	chr5:101478419-101478420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191102215	chr5:101478434-101478435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559289654	chr5:101478445-101478446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76038309	chr5:101478474-101478475	Weak transcription	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101476000-101480800	Weak transcription	HepG2	liver
2	chr5:101477600-101477800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:101478000-101480000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:101480000-101481200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:101480600-101481000	Enhancers	Hela-S3	cervix
6	chr5:101480800-101481800	Enhancers	HepG2	liver
7	chr5:101481200-101488800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:101481800-101487600	Weak transcription	HepG2	liver
9	chr5:101487600-101489600	Enhancers	HepG2	liver
10	chr5:101488400-101488800	Enhancers	Fetal Intestine Large	intestine
11	chr5:101488800-101489000	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr5:101488800-101489000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr5:101488800-101489200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:101488800-101489200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:101488800-101489200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:101488800-101489200	Flanking Active TSS	Fetal Intestine Large	intestine
17	chr5:101488800-101489200	Enhancers	Fetal Kidney	kidney
18	chr5:101488800-101489400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr5:101488800-101489800	Enhancers	Fetal Intestine Small	intestine
20	chr5:101488800-101491200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr5:101489000-101490400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:101489200-101489600	Enhancers	Fetal Intestine Large	intestine
23	chr5:101489200-101490400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:101489200-101490400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr5:101489400-101490400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:101489600-101490000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:101489600-101490200	Weak transcription	Fetal Intestine Large	intestine
28	chr5:101489800-101490200	Weak transcription	Fetal Intestine Small	intestine
29	chr5:101490000-101490400	Active TSS	Primary T cells from cord blood	blood
30	chr5:101490000-101491200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:101490200-101491200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:101490200-101491200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:101490200-101491200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:101490200-101491200	Active TSS	Fetal Intestine Large	intestine
35	chr5:101490200-101491200	Active TSS	Fetal Intestine Small	intestine
36	chr5:101490200-101491200	Active TSS	Stomach Smooth Muscle	stomach
37	chr5:101490400-101491000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:101490400-101491000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:101490400-101491000	Active TSS	Esophagus	oesophagus
40	chr5:101490400-101491000	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr5:101490400-101491200	Active TSS	H1 Cell Line	embryonic stem cell
42	chr5:101490400-101491200	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr5:101490400-101491200	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr5:101490400-101491200	Active TSS	Pancreas	Pancrea
45	chr5:101490400-101491200	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr5:101490400-101491200	Active TSS	Osteobl	bone
47	chr5:101490600-101491000	Active TSS	Right Ventricle	heart
48	chr5:101491000-101493600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr5:101493400-101493800	Enhancers	Aorta	Aorta
50	chr5:101517600-101517800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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