Variant report

Variant	nsv519686
Chromosome Location	chr5:101701924-101795490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:343)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:101789470-101789690	GM12878	blood:	n/a	n/a
2	BRCA1	chr5:101789869-101789950	GM12878	blood:	n/a	n/a
3	CEBPB	chr5:101754463-101754698	A549	lung:	n/a	chr5:101754614-101754625
4	CEBPB	chr5:101754464-101754713	H1-hESC	embryonic stem cell:	n/a	chr5:101754614-101754625
5	CEBPB	chr5:101711009-101711381	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr5:101707622-101707804	HepG2	liver:	n/a	n/a
7	CEBPB	chr5:101754452-101754780	HepG2	liver:	n/a	chr5:101754614-101754625
8	CHD2	chr5:101784477-101784560	HepG2	liver:	n/a	n/a
9	CTCF	chr5:101757458-101757665	LNCaP	prostate:	n/a	n/a
10	CTCF	chr5:101786060-101786210	NB4	blood:	n/a	n/a
11	CTCF	chr5:101786080-101786230	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr5:101786020-101786170	HEEpiC	esophagus:	n/a	n/a
13	CTCF	chr5:101786040-101786190	HMF	breast:	n/a	n/a
14	CTCF	chr5:101757460-101757610	Caco-2	colon:	n/a	n/a
15	CTCF	chr5:101786070-101786253	Fibrobl	skin:	n/a	n/a
16	CTCF	chr5:101705640-101705746	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr5:101757360-101757510	A549	lung:	n/a	n/a
18	CTCF	chr5:101769920-101770070	BE2_C	brain:	n/a	n/a
19	CTCF	chr5:101786060-101786210	GM12878	blood:	n/a	n/a
20	CTCF	chr5:101786100-101786250	HFF-Myc	foreskin:	n/a	n/a
21	CTCF	chr5:101786155-101786190	A549	lung:	n/a	n/a
22	CTCF	chr5:101786046-101786234	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr5:101757440-101757590	GM12871	blood:	n/a	n/a
24	CTCF	chr5:101757404-101757671	MCF-7	breast:	n/a	n/a
25	CTCF	chr5:101769920-101770070	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr5:101757400-101757550	GM12873	blood:	n/a	n/a
27	CTCF	chr5:101786086-101786205	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr5:101757461-101757625	ProgFib	skin:	n/a	n/a
29	CTCF	chr5:101744660-101744810	AoAF	blood vessel:	n/a	n/a
30	CTCF	chr5:101786100-101786250	BE2_C	brain:	n/a	n/a
31	CTCF	chr5:101786080-101786230	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr5:101786038-101786217	LNCaP	prostate:	n/a	n/a
33	CTCF	chr5:101786060-101786210	HepG2	liver:	n/a	n/a
34	CTCF	chr5:101786100-101786250	GM12874	blood:	n/a	n/a
35	CTCF	chr5:101786100-101786250	HepG2	liver:	n/a	n/a
36	CTCF	chr5:101786100-101786250	RPTEC	kidney:	n/a	n/a
37	CTCF	chr5:101769900-101770050	BE2_C	brain:	n/a	n/a
38	CTCF	chr5:101786080-101786230	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr5:101757500-101757650	GM12872	blood:	n/a	n/a
40	CTCF	chr5:101786040-101786190	HAc	cerebellar:	n/a	n/a
41	CTCF	chr5:101769880-101770030	HRE	kidney:	n/a	n/a
42	CTCF	chr5:101757540-101757690	HCT-116	colon:	n/a	n/a
43	CTCF	chr5:101769940-101770090	HCT-116	colon:	n/a	n/a
44	CTCF	chr5:101786040-101786190	GM06990	blood:	n/a	n/a
45	CTCF	chr5:101757403-101757631	HepG2	liver:	n/a	n/a
46	CTCF	chr5:101769960-101770110	GM12873	blood:	n/a	n/a
47	CTCF	chr5:101757471-101757601	HepG2	liver:	n/a	n/a
48	CTCF	chr5:101786060-101786210	GM12864	blood:	n/a	n/a
49	CTCF	chr5:101757500-101757650	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr5:101757389-101757668	MCF-7	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:101754300..101756641-chr5:101769503..101772313,2	K562	blood:
2	chr5:101709356..101712161-chr5:101716526..101719065,2	MCF-7	breast:
3	chr5:101721756..101723696-chr5:101735841..101738611,2	MCF-7	breast:
4	chr5:101725894..101726537-chr6:67534604..67535331,2	MCF-7	breast:
5	chr5:101721756..101723696-chr5:101735841..101738611,2	MCF-7	breast:
6	chr5:101695964..101697659-chr5:101699587..101702225,2	K562	blood:
7	chr5:101709356..101712161-chr5:101716526..101719065,2	MCF-7	breast:
8	chr5:101754300..101756641-chr5:101769503..101772313,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLCO4C1-1	chr5:101707649-101707775	NONHSAT103025
2	lnc-SLCO4C1-2	chr5:101794086-101794195	NONHSAT103026
3	lnc-SLCO4C1-1	chr5:101724392-101724529	NONHSAT103025
4	lnc-SLCO4C1-2	chr5:101774245-101774465	NONHSAT103026
5	lnc-SLCO4C1-1	chr5:101709041-101709198	NONHSAT103025
6	lnc-SLCO4C1-1	chr5:101726685-101726933	NONHSAT103025

No data

Variant related genes	Relation type
SLCO6A1	TF binding region

Extended variants
information (count: 348 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:348 , 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	rs193064253	chr5:101707721-101707722	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs138593658	chr5:101707747-101707748	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs571827482	chr5:101707749-101707750	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs35413912	chr5:101707766-101707767	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs368653036	chr5:101709053-101709054	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs113965602	chr5:101709056-101709057	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs372939815	chr5:101709073-101709074	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs146381310	chr5:101709074-101709075	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs76193868	chr5:101709088-101709089	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs565584698	chr5:101709091-101709092	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs200960054	chr5:101709131-101709132	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs539137924	chr5:101709135-101709136	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs143214362	chr5:101709138-101709139	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs567010617	chr5:101709139-101709140	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs369430600	chr5:101709142-101709143	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs146658765	chr5:101709158-101709159	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs375156373	chr5:101709182-101709183	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs200400953	chr5:101709184-101709185	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs73774677	chr5:101710638-101710639	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540151052	chr5:101710657-101710658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189782381	chr5:101710679-101710680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115368187	chr5:101710723-101710724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543663728	chr5:101710725-101710726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10053083	chr5:101710778-101710779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145410474	chr5:101710789-101710790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17272932	chr5:101710820-101710821	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs183498856	chr5:101710841-101710842	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs71586342	chr5:101710931-101710932	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs540993737	chr5:101710962-101710963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559357760	chr5:101711006-101711007	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs112459569	chr5:101711113-101711114	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs116798046	chr5:101711114-101711115	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs532201611	chr5:101711122-101711123	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs563332261	chr5:101711126-101711127	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs187779105	chr5:101711151-101711152	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs548910402	chr5:101711173-101711174	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs150348825	chr5:101711237-101711238	Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs1901515	chr5:101711249-101711250	Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs73189400	chr5:101711264-101711265	Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs1901514	chr5:101711280-101711281	Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs62369303	chr5:101711308-101711309	Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs374857492	chr5:101711375-101711376	Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs145133032	chr5:101711380-101711381	Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs62369304	chr5:101711398-101711399	Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs141067193	chr5:101711411-101711412	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs555555664	chr5:101711435-101711436	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs569964152	chr5:101711436-101711437	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs144616332	chr5:101711439-101711440	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs138511642	chr5:101711470-101711471	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs537373074	chr5:101711479-101711480	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101710600-101711000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:101710800-101711200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:101711000-101711200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:101711000-101711800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:101711000-101711800	Active TSS	Aorta	Aorta
6	chr5:101711200-101711800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:101722000-101722200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:101742800-101743000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:101750400-101750600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:101756400-101756600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:101756600-101757600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:101757600-101758400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:101784400-101784600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr5:101784600-101786200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:101789000-101789600	Enhancers	Dnd41	blood
16	chr5:101789200-101789800	Active TSS	Right Atrium	heart
17	chr5:101789400-101789800	Active TSS	Hela-S3	cervix
18	chr5:101789400-101790000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:101789400-101790000	Active TSS	HepG2	liver
20	chr5:101789600-101790000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:101789600-101790000	Active TSS	Brain Anterior Caudate	brain
22	chr5:101789600-101790000	Enhancers	Colon Smooth Muscle	Colon
23	chr5:101789600-101790000	Flanking Active TSS	Dnd41	blood
24	chr5:101789600-101790000	Active TSS	GM12878-XiMat	blood
25	chr5:101789800-101790000	Flanking Active TSS	Hela-S3	cervix

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