Variant report

Variant	nsv979186
Chromosome Location	chr2:234626863-234627363
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:234627360-234627510	HepG2	liver:	n/a	n/a
2	CTCF	chr2:234627300-234627450	GM12869	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234627262-234627312	HUVEC	blood vessel:	n/a
2	chr2:234627262-234627312	HRPEpiC	eye:	n/a
3	chr2:234627262-234627312	GM06990	blood:	n/a
4	chr2:234627262-234627312	CMK	blood:	n/a
5	chr2:234627262-234627312	ProgFib	skin:	n/a
6	chr2:234627262-234627312	Hela-S3	cervix:	n/a
7	chr2:234627262-234627312	PANC-1	pancreas:	n/a
8	chr2:234627262-234627312	AG09309	skin:	n/a
9	chr2:234627262-234627312	HEK293	kidney:	embryo
10	chr2:234627262-234627312	HNPCEpiC	eye:	n/a
11	chr2:234627262-234627312	Jurkat	blood:	n/a
12	chr2:234627262-234627312	AG04449	skin:	fetal
13	chr2:234627262-234627312	PFSK-1	brain:	n/a
14	chr2:234627262-234627312	SK-N-MC	brain:	n/a
15	chr2:234627262-234627312	HCPEpiC	choroid plexus:	n/a
16	chr2:234627262-234627312	NH-A	brain:	n/a
17	chr2:234627262-234627312	HAEpiC	amniotic membrane:	n/a
18	chr2:234627262-234627312	ECC-1	luminal epithelium:	n/a
19	chr2:234627262-234627312	GM12878	blood:	n/a
20	chr2:234627262-234627312	NT2-D1	testis:	n/a
21	chr2:234627262-234627312	SK-N-SH	brain:	n/a
22	chr2:234627262-234627312	H1-hESC	embryonic stem cell:	embryo
23	chr2:234627262-234627312	HPAEpiC	pulmonary alveolar:	n/a
24	chr2:234627262-234627312	NHDF-neo	bronchial:	n/a
25	chr2:234627262-234627312	MCF-7	breast:	n/a
26	chr2:234627262-234627312	Caco-2	colon:	n/a
27	chr2:234627262-234627312	HL-60	blood:	n/a
28	chr2:234627262-234627312	IMR90	lung:	fetal
29	chr2:234627262-234627312	HRE	kidney:	n/a
30	chr2:234627262-234627312	BE2_C	brain:	n/a
31	chr2:234627262-234627312	AG10803	skin:	n/a
32	chr2:234627262-234627312	K562	blood:	n/a
33	chr2:234627262-234627312	RPTEC	kidney:	n/a
34	chr2:234627262-234627312	SK-N-SH_RA	brain:	n/a
35	chr2:234627262-234627312	A549	lung:	n/a
36	chr2:234627262-234627312	ovcar-3	ovarian:	n/a
37	chr2:234627262-234627312	T-47D	breast:	n/a
38	chr2:234627262-234627312	U87	brain:	n/a
39	chr2:234627262-234627312	Hepatocyte	liver:	n/a
40	chr2:234627262-234627312	GM12892	blood:	n/a
41	chr2:234627262-234627312	HEEpiC	esophagus:	n/a
42	chr2:234627262-234627312	HRCEpiC	kidney:	n/a
43	chr2:234627262-234627312	NHBE	bronchial:	n/a
44	chr2:234627262-234627312	AoSMC	blood vessel:	n/a
45	chr2:234627262-234627312	HIPEpiC	eye:	n/a
46	chr2:234627262-234627312	HCT-116	colon:	n/a
47	chr2:234627262-234627312	HCF	heart:	n/a
48	chr2:234627262-234627312	SKMC	muscle:	n/a
49	chr2:234627262-234627312	SAEC	small airway:	n/a
50	chr2:234627262-234627312	AG04450	lung:	fetal

No data

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

Extended variants
information (count: 16 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531002147	chr2:234626881-234626882	Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs551154473	chr2:234626918-234626919	Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs563376367	chr2:234626944-234626945	Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs1846780	chr2:234626972-234626973	Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs3732221	chr2:234627010-234627011	Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189947965	chr2:234627034-234627035	Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs565525748	chr2:234627046-234627047	Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs3732220	chr2:234627048-234627049	Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551386260	chr2:234627073-234627074	Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs571476124	chr2:234627079-234627080	Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs536854799	chr2:234627198-234627199	Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs3732219	chr2:234627248-234627249	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs573810131	chr2:234627262-234627263	Strong transcription Weak transcription Active TSS Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs45454101	chr2:234627263-234627264	Strong transcription Weak transcription Active TSS Enhancers	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs552976207	chr2:234627272-234627273	Strong transcription Weak transcription Active TSS Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs3732218	chr2:234627304-234627305	Strong transcription Weak transcription Active TSS Enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:12 , 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	chr2:234626600-234627200	Flanking Active TSS	Liver	Liver
9	chr2:234626600-234628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:234626600-234668400	Weak transcription	NHEK	skin
11	chr2:234627200-234627600	Enhancers	Duodenum Mucosa	Duodenum
12	chr2:234627200-234630000	Active TSS	Liver	Liver

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