Variant report

Variant	nsv979184
Chromosome Location	chr2:234580493-234581713
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:234580460-234580610	RPTEC	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234580842-234580892	GM06990	blood:	n/a
2	chr2:234580842-234580892	ovcar-3	ovarian:	n/a
3	chr2:234580481-234580531	NH-A	brain:	n/a
4	chr2:234580842-234580892	Jurkat	blood:	n/a
5	chr2:234580481-234580531	HRPEpiC	eye:	n/a
6	chr2:234580481-234580531	HAEpiC	amniotic membrane:	n/a
7	chr2:234580842-234580892	LNCaP	prostate:	n/a
8	chr2:234580481-234580531	ovcar-3	ovarian:	n/a
9	chr2:234580842-234580892	MCF10A-Er-Src	breast:	n/a
10	chr2:234580842-234580892	RPTEC	kidney:	n/a
11	chr2:234580481-234580531	AG04449	skin:	fetal
12	chr2:234580481-234580531	GM12892	blood:	n/a
13	chr2:234580481-234580531	NB4	blood:	n/a
14	chr2:234580481-234580531	SK-N-SH	brain:	n/a
15	chr2:234580842-234580892	GM12891	blood:	n/a
16	chr2:234580481-234580531	PFSK-1	brain:	n/a
17	chr2:234580842-234580892	CMK	blood:	n/a
18	chr2:234580842-234580892	BE2_C	brain:	n/a
19	chr2:234580842-234580892	HCF	heart:	n/a
20	chr2:234580481-234580531	HepG2	liver:	n/a
21	chr2:234580842-234580892	H1-hESC	embryonic stem cell:	embryo
22	chr2:234580842-234580892	HMEC	breast:	n/a
23	chr2:234580481-234580531	SK-N-SH_RA	brain:	n/a
24	chr2:234580481-234580531	HMEC	breast:	n/a
25	chr2:234580842-234580892	IMR90	lung:	fetal
26	chr2:234580481-234580531	CMK	blood:	n/a
27	chr2:234580481-234580531	Caco-2	colon:	n/a
28	chr2:234580481-234580531	HL-60	blood:	n/a
29	chr2:234580481-234580531	K562	blood:	n/a
30	chr2:234580481-234580531	GM12891	blood:	n/a
31	chr2:234580842-234580892	NB4	blood:	n/a
32	chr2:234580481-234580531	MCF-7	breast:	n/a
33	chr2:234580842-234580892	SAEC	small airway:	n/a
34	chr2:234580481-234580531	T-47D	breast:	n/a
35	chr2:234580842-234580892	SK-N-SH_RA	brain:	n/a
36	chr2:234580842-234580892	PANC-1	pancreas:	n/a
37	chr2:234580481-234580531	AG09309	skin:	n/a
38	chr2:234580842-234580892	HRPEpiC	eye:	n/a
39	chr2:234580481-234580531	AoSMC	blood vessel:	n/a
40	chr2:234580481-234580531	SAEC	small airway:	n/a
41	chr2:234580481-234580531	IMR90	lung:	fetal
42	chr2:234580481-234580531	GM06990	blood:	n/a
43	chr2:234580481-234580531	HCF	heart:	n/a
44	chr2:234580481-234580531	HCPEpiC	choroid plexus:	n/a
45	chr2:234580481-234580531	HNPCEpiC	eye:	n/a
46	chr2:234580481-234580531	AG10803	skin:	n/a
47	chr2:234580481-234580531	GM12878	blood:	n/a
48	chr2:234580842-234580892	AoSMC	blood vessel:	n/a
49	chr2:234580481-234580531	LNCaP	prostate:	n/a
50	chr2:234580481-234580531	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234578802..234581575-chr2:234598668..234600515,2	MCF-7	breast:

No data

Variant related genes	Relation type
UGT1A8	TF binding region
UGT1A9	TF binding region
UGT1A8	CpG island
UGT1A9	CpG island
ENSG00000167165	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17868322	chr2:234580494-234580495	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576735288	chr2:234580508-234580509	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs369568035	chr2:234580531-234580532	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs372887151	chr2:234580536-234580537	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs377206386	chr2:234580548-234580549	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368891366	chr2:234580559-234580560	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs373067496	chr2:234580565-234580566	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs201915661	chr2:234580581-234580582	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146740151	chr2:234580587-234580588	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs145084767	chr2:234580588-234580589	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs72551329	chr2:234580589-234580590	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs199516931	chr2:234580617-234580618	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs376535701	chr2:234580622-234580623	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201395034	chr2:234580648-234580649	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs138685396	chr2:234580649-234580650	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs72551330	chr2:234580678-234580679	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369317288	chr2:234580681-234580682	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs144147859	chr2:234580708-234580709	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201474770	chr2:234580709-234580710	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs139255934	chr2:234580736-234580737	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs199829358	chr2:234580755-234580756	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs111722751	chr2:234580776-234580777	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs527774940	chr2:234580792-234580793	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373150809	chr2:234580804-234580805	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs41264153	chr2:234580805-234580806	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs199760228	chr2:234580815-234580816	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201682499	chr2:234580835-234580836	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570830637	chr2:234580839-234580840	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs143487779	chr2:234580842-234580843	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs148603525	chr2:234580843-234580844	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200971960	chr2:234580844-234580845	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs200074292	chr2:234580846-234580847	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs186748787	chr2:234580847-234580848	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536086355	chr2:234580865-234580866	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200518607	chr2:234580869-234580870	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201993303	chr2:234580876-234580877	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs555995846	chr2:234580888-234580889	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs574626292	chr2:234580901-234580902	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs377398548	chr2:234580911-234580912	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576749742	chr2:234580915-234580916	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370692027	chr2:234580917-234580918	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs374589183	chr2:234580949-234580950	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs148880087	chr2:234580966-234580967	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs28946876	chr2:234580967-234580968	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
45	rs376368364	chr2:234580968-234580969	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370181544	chr2:234580984-234580985	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs374130776	chr2:234580986-234580987	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs76167146	chr2:234581002-234581003	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs138301590	chr2:234581003-234581004	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113101046	chr2:234581012-234581013	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	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
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234554600-234587800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:234559800-234592800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:234579800-234580600	Flanking Active TSS	Liver	Liver
4	chr2:234579800-234580600	Enhancers	A549	lung
5	chr2:234580400-234582200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:234580600-234582400	Active TSS	Liver	Liver
7	chr2:234580600-234582400	Weak transcription	A549	lung
8	chr2:234581400-234582000	Enhancers	Primary B cells from cord blood	blood

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