Variant report

Variant	nsv963782
Chromosome Location	chr2:234636877-234638804
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:305)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:234638531-234638615	GM10266	blood:	n/a	n/a
2	FOSL2	chr2:234638767-234639039	HepG2	liver:	n/a	chr2:234638889-234638898
3	POLR2A	chr2:234637803-234637807	A549	lung:	n/a	n/a
4	POLR2A	chr2:234637848-234637849	A549	lung:	n/a	n/a
5	POLR2A	chr2:234637826-234637834	A549	lung:	n/a	n/a
6	POLR2A	chr2:234637809-234637903	Gliobla	brain:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234637667-234637717	BJ	skin:	n/a
2	chr2:234637306-234637356	HIPEpiC	eye:	n/a
3	chr2:234638269-234638319	NHDF-neo	bronchial:	n/a
4	chr2:234637253-234637303	GM12892	blood:	n/a
5	chr2:234637574-234637624	T-47D	breast:	n/a
6	chr2:234637306-234637356	PANC-1	pancreas:	n/a
7	chr2:234637574-234637624	Hepatocyte	liver:	n/a
8	chr2:234637667-234637717	LNCaP	prostate:	n/a
9	chr2:234637253-234637303	SK-N-SH	brain:	n/a
10	chr2:234637667-234637717	HEEpiC	esophagus:	n/a
11	chr2:234637667-234637717	HUVEC	blood vessel:	n/a
12	chr2:234637253-234637303	HMEC	breast:	n/a
13	chr2:234637253-234637303	HRE	kidney:	n/a
14	chr2:234637574-234637624	HRCEpiC	kidney:	n/a
15	chr2:234637574-234637624	BE2_C	brain:	n/a
16	chr2:234638269-234638319	GM06990	blood:	n/a
17	chr2:234637306-234637356	Hela-S3	cervix:	n/a
18	chr2:234637253-234637303	Hela-S3	cervix:	n/a
19	chr2:234637253-234637303	HL-60	blood:	n/a
20	chr2:234637667-234637717	HCPEpiC	choroid plexus:	n/a
21	chr2:234638269-234638319	HEK293	kidney:	embryo
22	chr2:234637574-234637624	HepG2	liver:	n/a
23	chr2:234637306-234637356	HAEpiC	amniotic membrane:	n/a
24	chr2:234638269-234638319	A549	lung:	n/a
25	chr2:234637306-234637356	GM12892	blood:	n/a
26	chr2:234637253-234637303	K562	blood:	n/a
27	chr2:234637253-234637303	AG10803	skin:	n/a
28	chr2:234638269-234638319	HCM	heart:	n/a
29	chr2:234637253-234637303	LNCaP	prostate:	n/a
30	chr2:234637667-234637717	HCF	heart:	n/a
31	chr2:234637253-234637303	AG04449	skin:	fetal
32	chr2:234637306-234637356	Hepatocyte	liver:	n/a
33	chr2:234637667-234637717	NHDF-neo	bronchial:	n/a
34	chr2:234638269-234638319	HNPCEpiC	eye:	n/a
35	chr2:234637306-234637356	HRE	kidney:	n/a
36	chr2:234637306-234637356	GM19239	blood:	n/a
37	chr2:234637574-234637624	LNCaP	prostate:	n/a
38	chr2:234637667-234637717	SK-N-SH	brain:	n/a
39	chr2:234637574-234637624	PFSK-1	brain:	n/a
40	chr2:234638269-234638319	Hepatocyte	liver:	n/a
41	chr2:234637253-234637303	MCF-7	breast:	n/a
42	chr2:234638269-234638319	GM12891	blood:	n/a
43	chr2:234637667-234637717	NB4	blood:	n/a
44	chr2:234637667-234637717	AG04449	skin:	fetal
45	chr2:234637253-234637303	Jurkat	blood:	n/a
46	chr2:234637574-234637624	Jurkat	blood:	n/a
47	chr2:234637667-234637717	A549	lung:	n/a
48	chr2:234637306-234637356	AG09319	gingival:	n/a
49	chr2:234637574-234637624	SAEC	small airway:	n/a
50	chr2:234637574-234637624	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	2:234635414-234639782..2:234772667-234780240	Hela-S3	cervix:
2	chr2:234637896..234640536-chr2:234645854..234647790,2	MCF-7	breast:

No data

Variant related genes	Relation type
UGT1A8	TF binding region
UGT1A3	TF binding region
UGT1A8	CpG island
UGT1A3	CpG island
ENSG00000248114	chromatin interactions
ENSG00000224287	chromatin interactions

Extended variants
information (count: 176 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150082316	chr2:234636895-234636896	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs45459598	chr2:234636921-234636922	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539087597	chr2:234636953-234636954	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558506225	chr2:234636958-234636959	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541948735	chr2:234636975-234636976	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs562159767	chr2:234636980-234636981	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563939650	chr2:234636999-234637000	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2008584	chr2:234637015-234637016	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs1983023	chr2:234637022-234637023	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533416663	chr2:234637030-234637031	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186918599	chr2:234637060-234637061	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563525403	chr2:234637062-234637063	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531471868	chr2:234637076-234637077	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs547972941	chr2:234637080-234637081	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570780705	chr2:234637105-234637106	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554437278	chr2:234637165-234637166	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs568098580	chr2:234637167-234637168	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2008595	chr2:234637192-234637193	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs547390241	chr2:234637193-234637194	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190814480	chr2:234637203-234637204	Strong transcription Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs61764026	chr2:234637217-234637218	Strong transcription Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs183295666	chr2:234637219-234637220	Strong transcription Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs45507691	chr2:234637220-234637221	Strong transcription Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs28898616	chr2:234637226-234637227	Strong transcription Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553325629	chr2:234637230-234637231	Strong transcription Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535590480	chr2:234637254-234637255	Strong transcription Flanking Active TSS Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs371827044	chr2:234637287-234637288	Strong transcription Flanking Active TSS Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs187762667	chr2:234637302-234637303	Strong transcription Flanking Active TSS Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs541048622	chr2:234637303-234637304	Strong transcription Flanking Active TSS Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs557708388	chr2:234637306-234637307	Strong transcription Flanking Active TSS Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs577951721	chr2:234637307-234637308	Strong transcription Flanking Active TSS Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs543695455	chr2:234637318-234637319	Strong transcription Flanking Active TSS Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs370989772	chr2:234637376-234637377	Strong transcription Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191127700	chr2:234637520-234637521	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs529466232	chr2:234637527-234637528	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs182630542	chr2:234637535-234637536	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs61764028	chr2:234637545-234637546	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs45496293	chr2:234637566-234637567	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs386656367	chr2:234637569-234637570	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs573079837	chr2:234637571-234637572	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs547453547	chr2:234637573-234637574	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs545859432	chr2:234637574-234637575	Strong transcription Enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs533311965	chr2:234637575-234637576	Strong transcription Enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs144892248	chr2:234637576-234637577	Strong transcription Enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs569892277	chr2:234637577-234637578	Strong transcription Enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs535307581	chr2:234637578-234637579	Strong transcription Enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs555509351	chr2:234637579-234637580	Strong transcription Enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs566067568	chr2:234637580-234637581	Strong transcription Enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs534776981	chr2:234637581-234637582	Strong transcription Enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs557769938	chr2:234637582-234637583	Strong transcription Enhancers Weak transcription	CpG island Chromatin interactive region	3 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
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234620400-234659200	Weak transcription	Colonic Mucosa	Colon
2	chr2:234620600-234652200	Weak transcription	Esophagus	oesophagus
3	chr2:234626200-234649600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:234626600-234668400	Weak transcription	NHEK	skin
5	chr2:234627600-234637200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:234634600-234639400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:234634600-234648400	Weak transcription	A549	lung
8	chr2:234635200-234637000	Weak transcription	Stomach Mucosa	stomach
9	chr2:234636000-234639000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:234636200-234638400	Enhancers	Fetal Intestine Small	intestine
11	chr2:234636600-234637200	Enhancers	Liver	Liver
12	chr2:234636600-234637200	Weak transcription	Gastric	stomach
13	chr2:234637000-234638200	Enhancers	Stomach Mucosa	stomach
14	chr2:234637200-234637400	Flanking Active TSS	Liver	Liver
15	chr2:234637200-234637600	Enhancers	Duodenum Mucosa	Duodenum
16	chr2:234637200-234638000	Enhancers	Gastric	stomach
17	chr2:234637400-234637800	Enhancers	Liver	Liver
18	chr2:234637600-234638200	Bivalent Enhancer	HepG2	liver
19	chr2:234637800-234638600	Flanking Active TSS	Liver	Liver
20	chr2:234638400-234640200	Weak transcription	Fetal Intestine Small	intestine
21	chr2:234638600-234638800	Active TSS	Liver	Liver
22	chr2:234638800-234639400	Transcr. at gene 5' and 3'	Liver	Liver

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