Variant report

Variant	esv3324346
Chromosome Location	chr5:178547171-178549719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:367)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178548373-178548423	PANC-1	pancreas:	n/a
2	chr5:178548373-178548423	PANC-1	pancreas:	n/a
3	chr5:178547695-178547745	A549	lung:	n/a
4	chr5:178547695-178547745	SAEC	small airway:	n/a
5	chr5:178548373-178548423	MCF-7	breast:	n/a
6	chr5:178548229-178548279	AG09309	skin:	n/a
7	chr5:178547863-178547913	AG09319	gingival:	n/a
8	chr5:178548229-178548279	Hela-S3	cervix:	n/a
9	chr5:178547863-178547913	NHDF-neo	bronchial:	n/a
10	chr5:178547422-178547472	BE2_C	brain:	n/a
11	chr5:178548373-178548423	MCF10A-Er-Src	breast:	n/a
12	chr5:178547695-178547745	Caco-2	colon:	n/a
13	chr5:178547863-178547913	LNCaP	prostate:	n/a
14	chr5:178547422-178547472	NH-A	brain:	n/a
15	chr5:178548373-178548423	HRPEpiC	eye:	n/a
16	chr5:178548229-178548279	ovcar-3	ovarian:	n/a
17	chr5:178548700-178548750	HRCEpiC	kidney:	n/a
18	chr5:178547863-178547913	SK-N-SH	brain:	n/a
19	chr5:178547422-178547472	PANC-1	pancreas:	n/a
20	chr5:178548373-178548423	NT2-D1	testis:	n/a
21	chr5:178547695-178547745	HepG2	liver:	n/a
22	chr5:178547695-178547745	H1-hESC	embryonic stem cell:	embryo
23	chr5:178548373-178548423	HUVEC	blood vessel:	n/a
24	chr5:178548373-178548423	SK-N-SH	brain:	n/a
25	chr5:178547863-178547913	BE2_C	brain:	n/a
26	chr5:178547422-178547472	PFSK-1	brain:	n/a
27	chr5:178548700-178548750	BJ	skin:	n/a
28	chr5:178548373-178548423	H1-hESC	embryonic stem cell:	embryo
29	chr5:178547422-178547472	HEK293	kidney:	embryo
30	chr5:178547863-178547913	HepG2	liver:	n/a
31	chr5:178548229-178548279	HEK293	kidney:	embryo
32	chr5:178547422-178547472	AG04449	skin:	fetal
33	chr5:178547695-178547745	T-47D	breast:	n/a
34	chr5:178548700-178548750	HepG2	liver:	n/a
35	chr5:178547695-178547745	Hepatocyte	liver:	n/a
36	chr5:178547422-178547472	GM12892	blood:	n/a
37	chr5:178547863-178547913	Hela-S3	cervix:	n/a
38	chr5:178548229-178548279	Hepatocyte	liver:	n/a
39	chr5:178548700-178548750	SK-N-SH_RA	brain:	n/a
40	chr5:178548700-178548750	HIPEpiC	eye:	n/a
41	chr5:178548373-178548423	GM06990	blood:	n/a
42	chr5:178547863-178547913	HCF	heart:	n/a
43	chr5:178547863-178547913	MCF10A-Er-Src	breast:	n/a
44	chr5:178548229-178548279	U87	brain:	n/a
45	chr5:178548700-178548750	NHDF-neo	bronchial:	n/a
46	chr5:178547422-178547472	AG09309	skin:	n/a
47	chr5:178548229-178548279	IMR90	lung:	fetal
48	chr5:178548373-178548423	HIPEpiC	eye:	n/a
49	chr5:178548373-178548423	GM12892	blood:	n/a
50	chr5:178548229-178548279	HRPEpiC	eye:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178542353..178545239-chr5:178546502..178548105,2	K562	blood:
2	chr5:178547111..178548845-chr5:178551796..178553713,2	K562	blood:
3	chr5:178538154..178541379-chr5:178543841..178547566,3	MCF-7	breast:
4	chr1:149223934..149224436-chr5:178546980..178547500,3	MCF-7	breast:
5	chr1:149223586..149225383-chr5:178547000..178548500,2	MCF-7	breast:
6	chr1:149223402..149225514-chr5:178546980..178548500,3	MCF-7	breast:
7	chr5:178547111..178548841-chr5:178551234..178553296,2	K562	blood:

No data

Variant related genes	Relation type
ADAMTS2	CpG island
ENSG00000206737	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377521841	chr5:178547279-178547280	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs369701987	chr5:178547286-178547287	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554610807	chr5:178547300-178547301	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs888762	chr5:178547313-178547314	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557115609	chr5:178547342-178547343	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs190744441	chr5:178547468-178547469	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576976643	chr5:178547510-178547511	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs59982771	chr5:178547558-178547559	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2288382	chr5:178547567-178547568	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
10	rs146311534	chr5:178547644-178547645	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543295858	chr5:178547685-178547686	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183316147	chr5:178547695-178547696	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs188319503	chr5:178547703-178547704	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371802283	chr5:178547715-178547716	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs73806892	chr5:178547812-178547813	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs192541859	chr5:178547821-178547822	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550832359	chr5:178547869-178547870	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569027359	chr5:178547882-178547883	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs139486865	chr5:178547942-178547943	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs564110881	chr5:178547949-178547950	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536102077	chr5:178548003-178548004	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs548405575	chr5:178548004-178548005	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs566730106	chr5:178548047-178548048	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs4701051	chr5:178548136-178548137	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs183270135	chr5:178548195-178548196	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186800326	chr5:178548196-178548197	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs537929778	chr5:178548205-178548206	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377083782	chr5:178548262-178548263	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370072581	chr5:178548265-178548266	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs4701052	chr5:178548280-178548281	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs574479194	chr5:178548312-178548313	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs79105118	chr5:178548322-178548323	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542814181	chr5:178548335-178548336	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556972809	chr5:178548337-178548338	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs7735735	chr5:178548339-178548340	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs573173849	chr5:178548343-178548344	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540554642	chr5:178548388-178548389	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs200044911	chr5:178548449-178548450	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564245303	chr5:178548474-178548475	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs564924061	chr5:178548485-178548486	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs77711607	chr5:178548488-178548489	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532444903	chr5:178548497-178548498	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs527767852	chr5:178548498-178548499	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562791928	chr5:178548510-178548511	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2303640	chr5:178548514-178548515	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548368741	chr5:178548516-178548517	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566692882	chr5:178548543-178548544	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534057291	chr5:178548548-178548549	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377465096	chr5:178548576-178548577	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191220819	chr5:178548586-178548587	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178527800-178559800	Weak transcription	HSMM	muscle
2	chr5:178538000-178550000	Strong transcription	Osteobl	bone
3	chr5:178538000-178560400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:178538200-178564600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:178541000-178547600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:178541400-178547600	Weak transcription	NHLF	lung
7	chr5:178542800-178547600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:178543400-178547600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:178543400-178547800	Weak transcription	Ovary	ovary
10	chr5:178543600-178548400	Weak transcription	Fetal Lung	lung
11	chr5:178543800-178548600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:178544400-178547400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:178544400-178547800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:178545000-178555000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:178545200-178548000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:178545800-178552800	ZNF genes & repeats	Fetal Stomach	stomach
17	chr5:178546000-178554000	Weak transcription	HSMMtube	muscle
18	chr5:178546200-178549200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr5:178546800-178563200	Strong transcription	Adipose Nuclei	Adipose
20	chr5:178547000-178565400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:178547200-178548000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:178547400-178549800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:178547400-178549800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:178547400-178560200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:178547600-178549000	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr5:178547600-178549800	Strong transcription	NHLF	lung
27	chr5:178547600-178552800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:178547600-178552800	ZNF genes & repeats	Spleen	Spleen
29	chr5:178547600-178560200	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr5:178547800-178549600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr5:178547800-178550000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
32	chr5:178547800-178560400	Strong transcription	Ovary	ovary
33	chr5:178548000-178550800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:178548000-178559800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:178548200-178549800	ZNF genes & repeats	Lung	lung
36	chr5:178548200-178554800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:178548400-178549200	Weak transcription	Small Intestine	intestine
38	chr5:178548400-178551400	Strong transcription	Fetal Lung	lung
39	chr5:178548600-178549200	ZNF genes & repeats	Fetal Muscle Leg	muscle
40	chr5:178548600-178549400	Strong transcription	Pancreatic Islets	Pancreatic Islet
41	chr5:178548600-178570000	Weak transcription	NHDF-Ad	bronchial
42	chr5:178549000-178553600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr5:178549200-178549400	Active TSS	Stomach Smooth Muscle	stomach
44	chr5:178549200-178549600	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr5:178549200-178549600	Weak transcription	Fetal Muscle Leg	muscle
46	chr5:178549200-178549800	ZNF genes & repeats	Aorta	Aorta
47	chr5:178549200-178550200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
48	chr5:178549400-178549600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:178549400-178549600	ZNF genes & repeats	Small Intestine	intestine
50	chr5:178549400-178550000	ZNF genes & repeats	Fetal Intestine Small	intestine

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