Variant report

Variant	nsv979187
Chromosome Location	chr2:234627363-234628474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:234627300-234627450	GM12869	blood:	n/a	n/a
2	CTCF	chr2:234627360-234627510	HepG2	liver:	n/a	n/a
3	MYC	chr2:234627691-234627751	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr2:234627988-234628011	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr2:234628255-234628318	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234627450-234627500	SK-N-SH_RA	brain:	n/a
2	chr2:234627401-234627451	HL-60	blood:	n/a
3	chr2:234627450-234627500	HMEC	breast:	n/a
4	chr2:234627450-234627500	U87	brain:	n/a
5	chr2:234627450-234627500	AG04450	lung:	fetal
6	chr2:234627401-234627451	ovcar-3	ovarian:	n/a
7	chr2:234627401-234627451	Jurkat	blood:	n/a
8	chr2:234627401-234627451	HepG2	liver:	n/a
9	chr2:234627450-234627500	ECC-1	luminal epithelium:	n/a
10	chr2:234627401-234627451	A549	lung:	n/a
11	chr2:234627450-234627500	GM06990	blood:	n/a
12	chr2:234627401-234627451	HCM	heart:	n/a
13	chr2:234627450-234627500	NT2-D1	testis:	n/a
14	chr2:234627401-234627451	AG04449	skin:	fetal
15	chr2:234627401-234627451	PANC-1	pancreas:	n/a
16	chr2:234627401-234627451	HMEC	breast:	n/a
17	chr2:234627401-234627451	AG10803	skin:	n/a
18	chr2:234627450-234627500	HRCEpiC	kidney:	n/a
19	chr2:234627401-234627451	SK-N-SH_RA	brain:	n/a
20	chr2:234627401-234627451	GM19239	blood:	n/a
21	chr2:234627450-234627500	MCF-7	breast:	n/a
22	chr2:234627450-234627500	HCPEpiC	choroid plexus:	n/a
23	chr2:234627450-234627500	HAEpiC	amniotic membrane:	n/a
24	chr2:234627450-234627500	HRPEpiC	eye:	n/a
25	chr2:234627401-234627451	MCF-7	breast:	n/a
26	chr2:234627401-234627451	Hepatocyte	liver:	n/a
27	chr2:234627450-234627500	Caco-2	colon:	n/a
28	chr2:234627450-234627500	HRE	kidney:	n/a
29	chr2:234627450-234627500	NHDF-neo	bronchial:	n/a
30	chr2:234627401-234627451	HEEpiC	esophagus:	n/a
31	chr2:234627401-234627451	HCT-116	colon:	n/a
32	chr2:234627450-234627500	HPAEpiC	pulmonary alveolar:	n/a
33	chr2:234627450-234627500	GM12878	blood:	n/a
34	chr2:234627401-234627451	SK-N-MC	brain:	n/a
35	chr2:234627401-234627451	LNCaP	prostate:	n/a
36	chr2:234627450-234627500	Jurkat	blood:	n/a
37	chr2:234627450-234627500	Hela-S3	cervix:	n/a
38	chr2:234627450-234627500	GM19239	blood:	n/a
39	chr2:234627450-234627500	PrEC	prostate:	n/a
40	chr2:234627401-234627451	GM12891	blood:	n/a
41	chr2:234627450-234627500	BJ	skin:	n/a
42	chr2:234627450-234627500	HCM	heart:	n/a
43	chr2:234627450-234627500	GM12892	blood:	n/a
44	chr2:234627401-234627451	PrEC	prostate:	n/a
45	chr2:234627401-234627451	K562	blood:	n/a
46	chr2:234627401-234627451	ECC-1	luminal epithelium:	n/a
47	chr2:234627450-234627500	HL-60	blood:	n/a
48	chr2:234627450-234627500	K562	blood:	n/a
49	chr2:234627450-234627500	SKMC	muscle:	n/a
50	chr2:234627450-234627500	AoSMC	blood vessel:	n/a

No data

Variant related genes	Relation type
UGT1A4	TF binding region
UGT1A4	CpG island

Extended variants
information (count: 125 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545724404	chr2:234627383-234627384	Strong transcription Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs545172755	chr2:234627390-234627391	Strong transcription Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs372600165	chr2:234627401-234627402	Strong transcription Weak transcription Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs374057137	chr2:234627419-234627420	Strong transcription Weak transcription Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs199517966	chr2:234627428-234627429	Strong transcription Weak transcription Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs372445273	chr2:234627429-234627430	Strong transcription Weak transcription Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs544842461	chr2:234627431-234627432	Strong transcription Weak transcription Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs375687360	chr2:234627439-234627440	Strong transcription Weak transcription Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs369738416	chr2:234627451-234627452	Strong transcription Weak transcription Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs137930413	chr2:234627474-234627475	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72551336	chr2:234627483-234627484	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529035115	chr2:234627484-234627485	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372864250	chr2:234627491-234627492	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199761544	chr2:234627495-234627496	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201577813	chr2:234627496-234627497	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs3892221	chr2:234627497-234627498	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs149314940	chr2:234627498-234627499	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62191899	chr2:234627508-234627509	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139927449	chr2:234627519-234627520	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369139290	chr2:234627520-234627521	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6755571	chr2:234627536-234627537	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs377204506	chr2:234627547-234627548	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368882210	chr2:234627553-234627554	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373069908	chr2:234627560-234627561	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149779946	chr2:234627573-234627574	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377569610	chr2:234627582-234627583	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149017068	chr2:234627585-234627586	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553189135	chr2:234627590-234627591	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369434904	chr2:234627599-234627600	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201006205	chr2:234627604-234627605	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140860588	chr2:234627606-234627607	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2011425	chr2:234627608-234627609	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs138086321	chr2:234627609-234627610	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182680267	chr2:234627611-234627612	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201968211	chr2:234627612-234627613	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs45510694	chr2:234627616-234627617	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200639166	chr2:234627624-234627625	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143900667	chr2:234627625-234627626	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs45571233	chr2:234627631-234627632	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144275831	chr2:234627634-234627635	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141408391	chr2:234627639-234627640	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs199607987	chr2:234627647-234627648	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs45621441	chr2:234627668-234627669	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs140140394	chr2:234627677-234627678	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148862762	chr2:234627682-234627683	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201935850	chr2:234627685-234627686	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544702876	chr2:234627695-234627696	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200903552	chr2:234627698-234627699	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150934066	chr2:234627701-234627702	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs193183920	chr2:234627707-234627708	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234617800-234631600	Weak transcription	Gastric	stomach
2	chr2:234620400-234659200	Weak transcription	Colonic Mucosa	Colon
3	chr2:234620600-234652200	Weak transcription	Esophagus	oesophagus
4	chr2:234622200-234627400	Weak transcription	Fetal Intestine Small	intestine
5	chr2:234626000-234634600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:234626200-234627800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:234626200-234649600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:234626600-234628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:234626600-234668400	Weak transcription	NHEK	skin
10	chr2:234627200-234627600	Enhancers	Duodenum Mucosa	Duodenum
11	chr2:234627200-234630000	Active TSS	Liver	Liver
12	chr2:234627400-234627800	Enhancers	Fetal Intestine Small	intestine
13	chr2:234627600-234629000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:234627600-234637200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:234627800-234636000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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