Variant report

Variant	nsv536181
Chromosome Location	chr2:234507291-234560670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:255)
CpG islands
(count:551)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr2:234509214-234509461	K562	blood:	n/a	n/a
2	CEBPB	chr2:234512344-234512544	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:234521112-234521181	IMR90	lung:	n/a	n/a
4	CTCF	chr2:234551620-234551770	GM12868	blood:	n/a	n/a
5	CTCF	chr2:234551900-234552050	AoAF	blood vessel:	n/a	n/a
6	CTCF	chr2:234551900-234552050	GM12864	blood:	n/a	n/a
7	CTCF	chr2:234551920-234552070	BE2_C	brain:	n/a	n/a
8	CTCF	chr2:234551920-234552070	HEK293	kidney:	n/a	n/a
9	CTCF	chr2:234507660-234507810	A549	lung:	n/a	n/a
10	CTCF	chr2:234551880-234552030	GM12872	blood:	n/a	n/a
11	CTCF	chr2:234551880-234552030	HRPEpiC	eye:	n/a	n/a
12	CTCF	chr2:234551838-234552159	GM12878	blood:	n/a	n/a
13	CTCF	chr2:234516863-234516899	GM12891	blood:	n/a	n/a
14	CTCF	chr2:234551920-234552070	HRE	kidney:	n/a	n/a
15	CTCF	chr2:234551900-234552050	GM12868	blood:	n/a	n/a
16	CTCF	chr2:234516850-234516892	GM19240	blood:	n/a	n/a
17	CTCF	chr2:234547642-234547861	GM12878	blood:	n/a	n/a
18	CTCF	chr2:234551906-234552090	Fibrobl	skin:	n/a	n/a
19	CTCF	chr2:234547667-234547723	GM13977	blood:	n/a	n/a
20	CTCF	chr2:234551880-234552030	GM12874	blood:	n/a	n/a
21	CTCF	chr2:234551960-234552032	GM10266	blood:	n/a	n/a
22	CTCF	chr2:234551880-234552030	HA-sp	spinal cord:	n/a	n/a
23	CTCF	chr2:234551880-234552030	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr2:234551940-234552090	GM12873	blood:	n/a	n/a
25	CTCF	chr2:234545031-234545104	Pancreas_OC	pancreas:	n/a	n/a
26	CTCF	chr2:234551900-234552050	GM12878	blood:	n/a	n/a
27	CTCF	chr2:234551811-234552100	HepG2	liver:	n/a	n/a
28	CTCF	chr2:234551900-234552050	AG04450	lung:	n/a	n/a
29	CTCF	chr2:234523993-234524038	GM13977	blood:	n/a	n/a
30	CTCF	chr2:234551920-234552070	MCF-7	breast:	n/a	n/a
31	CTCF	chr2:234551746-234552214	MCF-7	breast:	n/a	n/a
32	CTCF	chr2:234551960-234552110	HEK293	kidney:	n/a	n/a
33	CTCF	chr2:234516816-234516892	GM20000	blood:	n/a	n/a
34	CTCF	chr2:234547634-234547721	GM12892	blood:	n/a	n/a
35	CTCF	chr2:234551820-234551970	BJ	skin:	n/a	n/a
36	CTCF	chr2:234516843-234516899	GM19239	blood:	n/a	n/a
37	CTCF	chr2:234551860-234552010	GM12865	blood:	n/a	n/a
38	CTCF	chr2:234551620-234551770	GM12874	blood:	n/a	n/a
39	CTCF	chr2:234547480-234547630	A549	lung:	n/a	n/a
40	CTCF	chr2:234551920-234552070	HPF	lung:	n/a	n/a
41	CTCF	chr2:234551900-234552050	MCF-7	breast:	n/a	n/a
42	CTCF	chr2:234551940-234552090	GM12871	blood:	n/a	n/a
43	CTCF	chr2:234551906-234552081	GM12892	blood:	n/a	n/a
44	CTCF	chr2:234522915-234522947	GM20000	blood:	n/a	n/a
45	CTCF	chr2:234551920-234552070	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr2:234551939-234552060	ProgFib	skin:	n/a	n/a
47	CTCF	chr2:234551860-234552098	HepG2	liver:	n/a	n/a
48	CTCF	chr2:234551900-234552050	HepG2	liver:	n/a	n/a
49	CTCF	chr2:234551900-234552050	SAEC	small airway:	n/a	n/a
50	CTCF	chr2:234551900-234552050	GM12867	blood:	n/a	n/a

(count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234545177-234545227	MCF-7	breast:	n/a
2	chr2:234526295-234526345	ovcar-3	ovarian:	n/a
3	chr2:234545177-234545227	MCF-7	breast:	n/a
4	chr2:234526295-234526345	ovcar-3	ovarian:	n/a
5	chr2:234526295-234526345	HepG2	liver:	n/a
6	chr2:234526295-234526345	IMR90	lung:	fetal
7	chr2:234526077-234526127	IMR90	lung:	fetal
8	chr2:234526077-234526127	HPAEpiC	pulmonary alveolar:	n/a
9	chr2:234544995-234545045	HMEC	breast:	n/a
10	chr2:234525618-234525668	SK-N-SH	brain:	n/a
11	chr2:234545177-234545227	HL-60	blood:	n/a
12	chr2:234545110-234545160	HPAEpiC	pulmonary alveolar:	n/a
13	chr2:234544995-234545045	PFSK-1	brain:	n/a
14	chr2:234544995-234545045	HRPEpiC	eye:	n/a
15	chr2:234526255-234526305	AG09309	skin:	n/a
16	chr2:234526077-234526127	Hepatocyte	liver:	n/a
17	chr2:234526255-234526305	AG04449	skin:	fetal
18	chr2:234526255-234526305	GM19239	blood:	n/a
19	chr2:234544995-234545045	HCPEpiC	choroid plexus:	n/a
20	chr2:234526295-234526345	HCPEpiC	choroid plexus:	n/a
21	chr2:234544271-234544321	HCM	heart:	n/a
22	chr2:234544271-234544321	HNPCEpiC	eye:	n/a
23	chr2:234544462-234544512	NHDF-neo	bronchial:	n/a
24	chr2:234526077-234526127	HRE	kidney:	n/a
25	chr2:234544995-234545045	HUVEC	blood vessel:	n/a
26	chr2:234544995-234545045	HIPEpiC	eye:	n/a
27	chr2:234525618-234525668	HCM	heart:	n/a
28	chr2:234526077-234526127	HAEpiC	amniotic membrane:	n/a
29	chr2:234525618-234525668	HUVEC	blood vessel:	n/a
30	chr2:234545110-234545160	IMR90	lung:	fetal
31	chr2:234544462-234544512	BJ	skin:	n/a
32	chr2:234526295-234526345	AG04450	lung:	fetal
33	chr2:234545177-234545227	SAEC	small airway:	n/a
34	chr2:234545110-234545160	H1-hESC	embryonic stem cell:	embryo
35	chr2:234526077-234526127	HCM	heart:	n/a
36	chr2:234544462-234544512	Jurkat	blood:	n/a
37	chr2:234526077-234526127	NHDF-neo	bronchial:	n/a
38	chr2:234526295-234526345	SK-N-SH_RA	brain:	n/a
39	chr2:234526255-234526305	Jurkat	blood:	n/a
40	chr2:234544271-234544321	AG04449	skin:	fetal
41	chr2:234544271-234544321	NB4	blood:	n/a
42	chr2:234544271-234544321	AG10803	skin:	n/a
43	chr2:234526077-234526127	MCF10A-Er-Src	breast:	n/a
44	chr2:234544995-234545045	SK-N-SH_RA	brain:	n/a
45	chr2:234545177-234545227	LNCaP	prostate:	n/a
46	chr2:234526295-234526345	K562	blood:	n/a
47	chr2:234525618-234525668	AG04449	skin:	fetal
48	chr2:234544271-234544321	AG09309	skin:	n/a
49	chr2:234525618-234525668	GM19239	blood:	n/a
50	chr2:234526295-234526345	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:234559926..234563165-chr2:234564749..234566368,3	K562	blood:
2	chr2:234557472..234561426-chr2:234563315..234566249,3	K562	blood:
3	2:234543708-234558325..2:234649753-234657866	Hela-S3	cervix:
4	2:234492023-234494396..2:234543708-234558325	GM12878	blood:
5	chr2:234448748..234450538-chr2:234553700..234555671,2	K562	blood:
6	chr2:234544581..234547100-chr2:234548174..234549799,2	MCF-7	breast:
7	chr2:234534086..234537809-chr2:234597332..234600775,3	MCF-7	breast:
8	2:234543708-234558325..2:234772667-234780240	Hela-S3	cervix:

No data

Variant related genes	Relation type
UGT1A13P	TF binding region
UGT1A11P	TF binding region
UGT1A8	TF binding region
UGT1A10	TF binding region
UGT1A13P	CpG island
UGT1A11P	CpG island
UGT1A8	CpG island
UGT1A10	CpG island
ENSG00000228949	chromatin interactions
ENSG00000224287	chromatin interactions
ENSG00000227802	chromatin interactions
ENSG00000228445	chromatin interactions
ENSG00000167165	chromatin interactions
ENSG00000242515	chromatin interactions

Extended variants
information (count: 1840 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1840 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556151968	chr2:234507366-234507367	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs184026545	chr2:234507405-234507406	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs34764838	chr2:234507414-234507415	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs541614124	chr2:234507448-234507449	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs10188008	chr2:234507483-234507484	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs562211839	chr2:234507496-234507497	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs147041951	chr2:234507502-234507503	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs571226259	chr2:234507514-234507515	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs74565586	chr2:234507515-234507516	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs541471486	chr2:234507535-234507536	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs553259727	chr2:234507547-234507548	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs573171378	chr2:234507577-234507578	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533139272	chr2:234507584-234507585	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs538675228	chr2:234507623-234507624	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs550457854	chr2:234507634-234507635	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs563781916	chr2:234507732-234507733	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs568527799	chr2:234507755-234507756	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs113793886	chr2:234507785-234507786	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs189808520	chr2:234507801-234507802	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs549154643	chr2:234507818-234507819	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs558593390	chr2:234507819-234507820	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs28967000	chr2:234507868-234507869	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs533617026	chr2:234507869-234507870	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs193201827	chr2:234507927-234507928	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs28967001	chr2:234507929-234507930	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs539024831	chr2:234507976-234507977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185520168	chr2:234508000-234508001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556426923	chr2:234508047-234508048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190784266	chr2:234508054-234508055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180793510	chr2:234508070-234508071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2602385	chr2:234508075-234508076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs572241690	chr2:234508126-234508127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138530627	chr2:234508173-234508174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376184531	chr2:234508208-234508209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1584800	chr2:234508211-234508212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557929346	chr2:234508225-234508226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28967002	chr2:234508230-234508231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs202086868	chr2:234508251-234508252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543447951	chr2:234508295-234508296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564048827	chr2:234508338-234508339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185211560	chr2:234508421-234508422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529542307	chr2:234508467-234508468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542837923	chr2:234508539-234508540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112779730	chr2:234508556-234508557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528630494	chr2:234508589-234508590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547102060	chr2:234508598-234508599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570406800	chr2:234508627-234508628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188355052	chr2:234508660-234508661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6728792	chr2:234508692-234508693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs544314305	chr2:234508728-234508729	Weak transcription	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
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234505600-234507800	Enhancers	Fetal Kidney	kidney
2	chr2:234506400-234508000	Enhancers	Liver	Liver
3	chr2:234507000-234507800	Flanking Active TSS	A549	lung
4	chr2:234507800-234508000	Enhancers	A549	lung
5	chr2:234508000-234511000	Weak transcription	Liver	Liver
6	chr2:234509000-234509400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:234509000-234509400	Enhancers	NHEK	skin
8	chr2:234509400-234510800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:234511000-234511200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:234511000-234514200	Enhancers	Liver	Liver
11	chr2:234512000-234512800	Enhancers	HepG2	liver
12	chr2:234514200-234516600	Weak transcription	Liver	Liver
13	chr2:234516600-234518200	Enhancers	Liver	Liver
14	chr2:234525600-234528200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr2:234525800-234526000	Enhancers	Duodenum Mucosa	Duodenum
16	chr2:234525800-234526200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:234525800-234526400	Enhancers	NHEK	skin
18	chr2:234526000-234526600	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr2:234526200-234526600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr2:234526600-234526800	Enhancers	Duodenum Mucosa	Duodenum
21	chr2:234526600-234526800	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr2:234526800-234528800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:234526800-234528800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:234528800-234529000	Enhancers	Duodenum Mucosa	Duodenum
25	chr2:234528800-234529600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr2:234537800-234538000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
27	chr2:234538000-234544600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:234544400-234545200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr2:234544600-234544800	Enhancers	Duodenum Mucosa	Duodenum
30	chr2:234544600-234544800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr2:234544600-234545000	Enhancers	Colonic Mucosa	Colon
32	chr2:234544800-234547600	Active TSS	Duodenum Mucosa	Duodenum
33	chr2:234544800-234548400	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr2:234545200-234545600	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr2:234545200-234545800	Active TSS	Colonic Mucosa	Colon
36	chr2:234545200-234546000	Active TSS	Rectal Smooth Muscle	rectum
37	chr2:234545600-234546000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr2:234545800-234547400	Weak transcription	Colonic Mucosa	Colon
39	chr2:234546000-234546800	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr2:234546800-234547200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr2:234547200-234548000	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr2:234547400-234547800	Active TSS	Colonic Mucosa	Colon
43	chr2:234547400-234547800	Enhancers	NHEK	skin
44	chr2:234547400-234548200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:234547400-234548200	Enhancers	HMEC	breast
46	chr2:234547600-234548200	Enhancers	Duodenum Mucosa	Duodenum
47	chr2:234547800-234554000	Weak transcription	Colonic Mucosa	Colon
48	chr2:234548000-234548200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr2:234548200-234548800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr2:234548200-234549400	Weak transcription	Rectal Mucosa Donor 31	rectum

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