Variant report

Variant	nsv882786
Chromosome Location	chr5:119615110-119714817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:397)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:119694688-119694905	K562	blood:	n/a	n/a
2	ATF1	chr5:119640444-119640591	K562	blood:	n/a	n/a
3	BACH1	chr5:119697785-119697924	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr5:119714670-119714992	GM12878	blood:	n/a	n/a
5	BATF	chr5:119714603-119715029	GM12878	blood:	n/a	n/a
6	BCL11A	chr5:119714620-119715075	GM12878	blood:	n/a	n/a
7	CBX3	chr5:119686872-119687070	K562	blood:	n/a	n/a
8	CBX3	chr5:119686791-119687141	K562	blood:	n/a	n/a
9	CEBPB	chr5:119624696-119624868	K562	blood:	n/a	n/a
10	CEBPB	chr5:119642107-119642363	IMR90	lung:	n/a	n/a
11	CEBPB	chr5:119624658-119624916	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr5:119624652-119624935	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr5:119702508-119702680	HepG2	liver:	n/a	chr5:119702615-119702626
14	CEBPB	chr5:119702522-119702675	K562	blood:	n/a	chr5:119702615-119702626
15	CEBPB	chr5:119709839-119710007	IMR90	lung:	n/a	chr5:119709974-119709983 chr5:119709972-119709983
16	CEBPB	chr5:119713168-119713212	K562	blood:	n/a	n/a
17	CEBPB	chr5:119624738-119624873	A549	lung:	n/a	n/a
18	CEBPB	chr5:119696857-119696903	HepG2	liver:	n/a	n/a
19	CEBPB	chr5:119694757-119695008	K562	blood:	n/a	n/a
20	CEBPB	chr5:119624631-119624944	IMR90	lung:	n/a	n/a
21	CTCF	chr5:119663000-119663150	AG10803	skin:	n/a	chr5:119663064-119663085
22	CTCF	chr5:119704755-119704821	GM10248	blood:	n/a	n/a
23	CTCF	chr5:119663000-119663150	HMEC	breast:	n/a	chr5:119663064-119663085
24	CTCF	chr5:119663020-119663170	HBMEC	blood vessel:	n/a	chr5:119663064-119663085
25	CTCF	chr5:119683580-119683730	BE2_C	brain:	n/a	n/a
26	CTCF	chr5:119662940-119663090	HAc	cerebellar:	n/a	chr5:119663064-119663085
27	CTCF	chr5:119704671-119704888	Gliobla	brain:	n/a	n/a
28	CTCF	chr5:119704574-119704871	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr5:119637900-119638050	MCF-7	breast:	n/a	n/a
30	CTCF	chr5:119662960-119663110	NHDF-neo	bronchial:	n/a	chr5:119663064-119663085
31	CTCF	chr5:119663020-119663170	AoAF	blood vessel:	n/a	chr5:119663064-119663085
32	CTCF	chr5:119662960-119663110	HMEC	breast:	n/a	chr5:119663064-119663085
33	CTCF	chr5:119704720-119704870	GM12868	blood:	n/a	n/a
34	CTCF	chr5:119662980-119663130	BJ	skin:	n/a	chr5:119663064-119663085
35	CTCF	chr5:119704573-119704918	GM12878	blood:	n/a	n/a
36	CTCF	chr5:119704735-119704871	MCF-7	breast:	n/a	n/a
37	CTCF	chr5:119703754-119703817	ProgFib	skin:	n/a	n/a
38	CTCF	chr5:119704620-119704945	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr5:119704731-119704848	GM19239	blood:	n/a	n/a
40	CTCF	chr5:119662980-119663130	HRPEpiC	eye:	n/a	chr5:119663064-119663085
41	CTCF	chr5:119663020-119663170	RPTEC	kidney:	n/a	chr5:119663064-119663085
42	CTCF	chr5:119704754-119704850	MCF-7	breast:	n/a	n/a
43	CTCF	chr5:119663017-119663114	Hela-S3	cervix:	n/a	chr5:119663064-119663085
44	CTCF	chr5:119698340-119698490	BJ	skin:	n/a	n/a
45	CTCF	chr5:119663500-119663650	HRE	kidney:	n/a	n/a
46	CTCF	chr5:119659645-119659693	GM10266	blood:	n/a	n/a
47	CTCF	chr5:119663020-119663170	HMF	breast:	n/a	chr5:119663064-119663085
48	CTCF	chr5:119704680-119704830	HMEC	breast:	n/a	n/a
49	CTCF	chr5:119663000-119663150	MCF-7	breast:	n/a	chr5:119663064-119663085
50	CTCF	chr5:119662980-119663130	AG04449	skin:	n/a	chr5:119663064-119663085

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:119644924..119647255-chr5:119650755..119652269,2	MCF-7	breast:
2	chr5:119278671..119279490-chr5:119662851..119663369,2	MCF-7	breast:
3	chr5:119611234..119613467-chr5:119620898..119622860,2	K562	blood:
4	chr5:119661450..119663428-chr5:119666004..119667797,2	K562	blood:
5	chr5:119688806..119691602-chr5:119693680..119696391,2	K562	blood:
6	chr5:119702205..119704194-chr5:119706645..119708687,2	K562	blood:
7	chr5:119644924..119647255-chr5:119650755..119652269,2	MCF-7	breast:
8	chr5:119680201..119681861-chr5:119689913..119692510,2	K562	blood:
9	chr5:119680201..119681861-chr5:119689913..119692510,2	K562	blood:
10	chr5:119661450..119663428-chr5:119666004..119667797,2	K562	blood:
11	chr5:119688806..119691602-chr5:119693680..119696391,2	K562	blood:
12	chr5:119702205..119704194-chr5:119706645..119708687,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-5	chr5:119681602-119682035	ENSG00000261036.1
2	lnc-DTWD2-4	chr5:119668951-119669197	XLOC_004969

No data

Variant related genes	Relation type
RNU6-718P	TF binding region
ENSG00000251293	TF binding region

Extended variants
information (count: 3076 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:3076 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75683107	chr5:119628005-119628006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576091267	chr5:119628044-119628045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558241365	chr5:119628092-119628093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141182599	chr5:119628095-119628096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372983385	chr5:119628135-119628136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534019646	chr5:119628147-119628148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550507519	chr5:119628207-119628208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573677717	chr5:119628253-119628254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542932212	chr5:119628309-119628310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562609212	chr5:119628316-119628317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568783937	chr5:119628326-119628327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576198321	chr5:119628330-119628331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146959642	chr5:119628340-119628341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75714667	chr5:119628359-119628360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111325407	chr5:119628385-119628386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12719273	chr5:119628494-119628495	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs79666015	chr5:119628508-119628509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186648301	chr5:119628513-119628514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191599824	chr5:119628565-119628566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549664986	chr5:119628622-119628623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181216716	chr5:119628657-119628658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185343709	chr5:119628720-119628721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535283487	chr5:119628738-119628739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189657303	chr5:119628780-119628781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183464762	chr5:119628786-119628787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534056716	chr5:119628814-119628815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568502707	chr5:119628834-119628835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555681105	chr5:119628838-119628839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374937138	chr5:119628839-119628840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573714577	chr5:119628881-119628882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536213460	chr5:119628889-119628890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148348719	chr5:119628948-119628949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556428223	chr5:119628953-119628954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150477477	chr5:119628963-119628964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367924126	chr5:119628979-119628980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545276585	chr5:119628993-119628994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372184590	chr5:119629018-119629019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557294923	chr5:119629052-119629053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565109509	chr5:119629062-119629063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138347037	chr5:119629143-119629144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28448328	chr5:119629163-119629164	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs187240913	chr5:119629168-119629169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs207466370	chr5:119629192-119629193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529700750	chr5:119629204-119629205	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs191914486	chr5:119629225-119629226	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs4505982	chr5:119629273-119629274	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs75193813	chr5:119629312-119629313	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs143078809	chr5:119629328-119629329	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs571530398	chr5:119629329-119629330	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs183780984	chr5:119629342-119629343	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	21215367	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119628000-119628200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:119628000-119628200	Enhancers	HSMM	muscle
3	chr5:119628000-119630600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:119628200-119628400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:119628200-119629200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:119628200-119629200	Weak transcription	HSMM	muscle
7	chr5:119628200-119632000	Enhancers	NHDF-Ad	bronchial
8	chr5:119628400-119629000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:119629000-119629200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:119629000-119629200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:119629000-119629600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:119629000-119629800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:119629000-119630200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:119629000-119630400	Enhancers	HMEC	breast
15	chr5:119629200-119629600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:119629200-119629600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr5:119629200-119629600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:119629200-119629800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:119629200-119629800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:119629200-119630200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:119629200-119630200	Enhancers	NHEK	skin
22	chr5:119629200-119630200	Enhancers	NHLF	lung
23	chr5:119629200-119630400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:119629200-119630400	Enhancers	HSMM	muscle
25	chr5:119629200-119630400	Enhancers	NH-A	brain
26	chr5:119629200-119630400	Enhancers	Osteobl	bone
27	chr5:119629400-119629600	Enhancers	HSMMtube	muscle
28	chr5:119629600-119630400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr5:119629600-119632400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:119629600-119632600	Weak transcription	HSMMtube	muscle
31	chr5:119629600-119632800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:119629800-119632800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:119630200-119632600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:119630200-119632800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:119630200-119632800	Weak transcription	NHLF	lung
36	chr5:119630400-119632600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr5:119630400-119632600	Weak transcription	HSMM	muscle
38	chr5:119630400-119632800	Weak transcription	Osteobl	bone
39	chr5:119632000-119632400	Weak transcription	NHDF-Ad	bronchial
40	chr5:119632400-119633000	Enhancers	NHDF-Ad	bronchial
41	chr5:119632600-119633000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:119632600-119634200	Enhancers	HSMM	muscle
43	chr5:119632600-119634200	Enhancers	HSMMtube	muscle
44	chr5:119632600-119634400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr5:119632800-119633600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:119632800-119633600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:119632800-119633600	Enhancers	NHLF	lung
48	chr5:119632800-119634000	Enhancers	Osteobl	bone
49	chr5:119632800-119634600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:119633000-119633400	Flanking Active TSS	NHDF-Ad	bronchial

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