Variant report

Variant	nsv1020655
Chromosome Location	chr5:119729801-119781762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:293)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:119741643-119741799	K562	blood:	n/a	n/a
2	CBX3	chr5:119766328-119766517	K562	blood:	n/a	n/a
3	CBX3	chr5:119766312-119766599	K562	blood:	n/a	n/a
4	CEBPB	chr5:119743137-119743337	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr5:119751710-119751957	IMR90	lung:	n/a	n/a
6	CEBPB	chr5:119751624-119752006	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr5:119781713-119782170	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr5:119751648-119752032	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr5:119751752-119751990	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr5:119740974-119741851	IMR90	lung:	n/a	chr5:119741591-119741603
11	CEBPB	chr5:119751652-119752056	ECC-1	luminal epithelium:	n/a	n/a
12	CEBPB	chr5:119749374-119749816	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr5:119781622-119782289	IMR90	lung:	n/a	n/a
14	CEBPB	chr5:119751681-119751991	A549	lung:	n/a	n/a
15	CEBPB	chr5:119743107-119743255	K562	blood:	n/a	n/a
16	CTCF	chr5:119730100-119730250	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr5:119730072-119730307	IMR90	lung:	n/a	n/a
18	CTCF	chr5:119730140-119730290	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr5:119730140-119730290	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr5:119730000-119730150	NHLF	lung:	n/a	n/a
21	CTCF	chr5:119736104-119736160	GM13976	blood:	n/a	n/a
22	CTCF	chr5:119730120-119730270	AG04450	lung:	n/a	n/a
23	CTCF	chr5:119730080-119730230	HMF	breast:	n/a	n/a
24	CTCF	chr5:119730120-119730270	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr5:119730080-119730230	NHEK	skin:	n/a	n/a
26	CTCF	chr5:119740325-119740387	LNCaP	prostate:	n/a	n/a
27	CTCF	chr5:119730100-119730250	BE2_C	brain:	n/a	n/a
28	CTCF	chr5:119730140-119730290	AG09319	gingival:	n/a	n/a
29	CTCF	chr5:119730060-119730210	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr5:119730123-119730216	HepG2	liver:	n/a	n/a
31	CTCF	chr5:119730260-119730410	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr5:119730060-119730210	HRPEpiC	eye:	n/a	n/a
33	CTCF	chr5:119730040-119730190	HCM	heart:	n/a	n/a
34	CTCF	chr5:119740313-119740386	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr5:119730100-119730250	MCF-7	breast:	n/a	n/a
36	CTCF	chr5:119730100-119730250	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr5:119730118-119730248	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr5:119730100-119730250	HCM	heart:	n/a	n/a
39	CTCF	chr5:119730120-119730270	HPF	lung:	n/a	n/a
40	CTCF	chr5:119730140-119730290	HMF	breast:	n/a	n/a
41	CTCF	chr5:119730020-119730170	Caco-2	colon:	n/a	n/a
42	CTCF	chr5:119730080-119730230	AG04449	skin:	n/a	n/a
43	CTCF	chr5:119730120-119730270	HRPEpiC	eye:	n/a	n/a
44	CTCF	chr5:119730180-119730330	HVMF	connective:	n/a	n/a
45	CTCF	chr5:119743133-119743172	Fibrobl	skin:	n/a	n/a
46	CTCF	chr5:119730040-119730190	SAEC	small airway:	n/a	n/a
47	CTCF	chr5:119730020-119730170	HVMF	connective:	n/a	n/a
48	CTCF	chr5:119730120-119730270	HFF	foreskin:	n/a	n/a
49	CTCF	chr5:119730080-119730230	HCFaa	heart:	n/a	n/a
50	CTCF	chr5:119730100-119730250	AG10803	skin:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:119775909..119777540-chr5:119783720..119785397,2	K562	blood:
2	chr5:119769254..119771036-chr5:119773578..119776402,2	K562	blood:
3	chr5:119769254..119771036-chr5:119773578..119776402,2	K562	blood:
4	chr5:119721254..119725042-chr5:119751252..119754462,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-5	chr5:119740450-119740532	ENSG00000261036.1

No data

Variant related genes	Relation type
ENSG00000261036	TF binding region

Extended variants
information (count: 2230 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2230 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533903176	chr5:119729820-119729821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374539135	chr5:119729888-119729889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146782140	chr5:119729901-119729902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573676318	chr5:119729927-119729928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542683976	chr5:119729930-119729931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562426864	chr5:119729944-119729945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576009798	chr5:119729982-119729983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138918361	chr5:119730010-119730011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149436144	chr5:119730050-119730051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547823818	chr5:119730061-119730062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61629516	chr5:119730116-119730117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs560431852	chr5:119730122-119730123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143636303	chr5:119730150-119730151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548976986	chr5:119730166-119730167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530071822	chr5:119730200-119730201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568866552	chr5:119730231-119730232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537771853	chr5:119730276-119730277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551227924	chr5:119730294-119730295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548315037	chr5:119730334-119730335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569596122	chr5:119730355-119730356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182227899	chr5:119730377-119730378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530749803	chr5:119730386-119730387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141891756	chr5:119730430-119730431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553923018	chr5:119730439-119730440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551945546	chr5:119730458-119730459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573662717	chr5:119730537-119730538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186821001	chr5:119730586-119730587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556214669	chr5:119730662-119730663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576070533	chr5:119730690-119730691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545003073	chr5:119730724-119730725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564652158	chr5:119730737-119730738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201018565	chr5:119730748-119730749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115504852	chr5:119730756-119730757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570361464	chr5:119730772-119730773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188839394	chr5:119730794-119730795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560698369	chr5:119730827-119730828	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs146104848	chr5:119730873-119730874	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs542684525	chr5:119730885-119730886	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs562560223	chr5:119730918-119730919	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs138874604	chr5:119730920-119730921	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs375322308	chr5:119730932-119730933	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs551748226	chr5:119730976-119730977	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs571490960	chr5:119731077-119731078	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs73258268	chr5:119731096-119731097	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs141695423	chr5:119731104-119731105	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs547276556	chr5:119731111-119731112	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs181475930	chr5:119731121-119731122	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs536366339	chr5:119731123-119731124	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs552996068	chr5:119731127-119731128	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs556326693	chr5:119731142-119731143	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119724600-119735200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:119725000-119731800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:119725600-119732000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:119725800-119730800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:119725800-119731400	Weak transcription	NHDF-Ad	bronchial
6	chr5:119726000-119730800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:119727400-119733600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:119730800-119731400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:119730800-119733200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:119731400-119732200	Enhancers	HMEC	breast
11	chr5:119731400-119732600	Enhancers	Osteobl	bone
12	chr5:119731400-119733000	Enhancers	NHDF-Ad	bronchial
13	chr5:119731400-119733800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:119731600-119732400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:119731600-119732400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:119731600-119732600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:119731800-119732400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:119732000-119732400	Enhancers	HSMM	muscle
19	chr5:119732000-119732400	Enhancers	NHLF	lung
20	chr5:119732000-119732600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:119732200-119732600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:119732400-119734000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:119732600-119735000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:119733600-119733800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:119733800-119734800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:119733800-119735800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:119734000-119735400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:119734800-119735600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:119735000-119735600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:119735200-119735800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:119735400-119735800	ZNF genes & repeats	Pancreas	Pancrea
32	chr5:119735400-119740600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:119735600-119736400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:119735600-119736400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:119735600-119737200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:119735800-119744600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:119736400-119740200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:119737200-119737400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:119739400-119741400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:119739800-119743400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:119740200-119741800	Enhancers	NHLF	lung
42	chr5:119740200-119742000	Enhancers	HUVEC	blood vessel
43	chr5:119740200-119742200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:119740200-119742800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:119740400-119740800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:119740400-119741200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:119740400-119741200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr5:119740400-119742200	Enhancers	HMEC	breast
49	chr5:119740400-119742200	Enhancers	HSMM	muscle
50	chr5:119740400-119742200	Enhancers	NHDF-Ad	bronchial

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