Variant report

Variant	nsv531961
Chromosome Location	chr12:32966192-32997952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:32995011-32995252	K562	blood:	n/a	n/a
2	BACH1	chr12:32994947-32995329	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr12:32996494-32996815	H1-hESC	embryonic stem cell:	n/a	chr12:32996654-32996665 chr12:32996654-32996665 chr12:32996654-32996667
4	CEBPB	chr12:32996485-32996823	ECC-1	luminal epithelium:	n/a	chr12:32996654-32996665 chr12:32996654-32996665 chr12:32996654-32996667
5	CEBPB	chr12:32995656-32995713	K562	blood:	n/a	chr12:32995664-32995675
6	CEBPB	chr12:32994708-32994731	HepG2	liver:	n/a	n/a
7	CEBPB	chr12:32996450-32996799	ECC-1	luminal epithelium:	n/a	chr12:32996654-32996665 chr12:32996654-32996665 chr12:32996654-32996667
8	CEBPB	chr12:32995599-32995831	HepG2	liver:	n/a	chr12:32995664-32995675
9	CEBPB	chr12:32996476-32996836	Hela-S3	cervix:	n/a	chr12:32996654-32996665 chr12:32996654-32996665 chr12:32996654-32996667
10	CTCF	chr12:32995060-32995210	RPTEC	kidney:	n/a	chr12:32995147-32995155
11	CTCF	chr12:32995000-32995150	BE2_C	brain:	n/a	n/a
12	CTCF	chr12:32995097-32995176	Hela-S3	cervix:	n/a	chr12:32995147-32995155
13	CTCF	chr12:32995060-32995210	GM06990	blood:	n/a	chr12:32995147-32995155
14	CTCF	chr12:32995020-32995170	HCPEpiC	choroid plexus:	n/a	chr12:32995147-32995155
15	CTCF	chr12:32994980-32995130	NHEK	skin:	n/a	n/a
16	CTCF	chr12:32994976-32995246	K562	blood:	n/a	chr12:32995147-32995155
17	CTCF	chr12:32995080-32995230	HPAF	blood vessel:	n/a	chr12:32995147-32995155
18	CTCF	chr12:32995060-32995210	WERI-Rb-1	eye:	n/a	chr12:32995147-32995155
19	CTCF	chr12:32995020-32995170	GM12865	blood:	n/a	chr12:32995147-32995155
20	CTCF	chr12:32995120-32995270	HVMF	connective:	n/a	chr12:32995147-32995155
21	CTCF	chr12:32995020-32995170	GM12864	blood:	n/a	chr12:32995147-32995155
22	CTCF	chr12:32995040-32995190	AG10803	skin:	n/a	chr12:32995147-32995155
23	CTCF	chr12:32997460-32997610	HVMF	connective:	n/a	n/a
24	CTCF	chr12:32995080-32995230	GM12866	blood:	n/a	chr12:32995147-32995155
25	CTCF	chr12:32982680-32982749	Fibrobl	skin:	n/a	n/a
26	CTCF	chr12:32995020-32995170	MCF-7	breast:	n/a	chr12:32995147-32995155
27	CTCF	chr12:32995060-32995210	GM12874	blood:	n/a	chr12:32995147-32995155
28	CTCF	chr12:32995020-32995170	GM12870	blood:	n/a	chr12:32995147-32995155
29	CTCF	chr12:32995060-32995210	GM12871	blood:	n/a	chr12:32995147-32995155
30	CTCF	chr12:32991162-32991245	GM13976	blood:	n/a	n/a
31	CTCF	chr12:32995040-32995190	HCT-116	colon:	n/a	chr12:32995147-32995155
32	CTCF	chr12:32995020-32995170	Hela-S3	cervix:	n/a	chr12:32995147-32995155
33	CTCF	chr12:32995080-32995230	NB4	blood:	n/a	chr12:32995147-32995155
34	CTCF	chr12:32995088-32995201	HepG2	liver:	n/a	chr12:32995147-32995155
35	CTCF	chr12:32995040-32995190	HCFaa	heart:	n/a	chr12:32995147-32995155
36	CTCF	chr12:32995020-32995170	HCT-116	colon:	n/a	chr12:32995147-32995155
37	CTCF	chr12:32995080-32995230	HUVEC	blood vessel:	n/a	chr12:32995147-32995155
38	CTCF	chr12:32995080-32995230	HCPEpiC	choroid plexus:	n/a	chr12:32995147-32995155
39	CTCF	chr12:32995480-32995630	GM12866	blood:	n/a	n/a
40	CTCF	chr12:32995480-32995630	HEK293	kidney:	n/a	n/a
41	CTCF	chr12:32995040-32995190	HEEpiC	esophagus:	n/a	chr12:32995147-32995155
42	CTCF	chr12:32995020-32995170	GM12872	blood:	n/a	chr12:32995147-32995155
43	CTCF	chr12:32995080-32995230	HRPEpiC	eye:	n/a	chr12:32995147-32995155
44	CTCF	chr12:32975420-32975690	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr12:32995120-32995270	HEEpiC	esophagus:	n/a	chr12:32995147-32995155
46	CTCF	chr12:32975447-32975607	LNCaP	prostate:	n/a	n/a
47	CTCF	chr12:32995120-32995270	HepG2	liver:	n/a	chr12:32995147-32995155
48	CTCF	chr12:32970389-32970458	Lung_OC	lung:	n/a	n/a
49	CTCF	chr12:32995040-32995190	HA-sp	spinal cord:	n/a	chr12:32995147-32995155
50	CTCF	chr12:32995100-32995250	K562	blood:	n/a	chr12:32995147-32995155

No.	Distal block	Cell Line	Cell type
1	chr12:32907107..32909879-chr12:32974270..32975942,2	K562	blood:
2	chr10:82556343..82556863-chr12:32992193..32992711,2	MCF-7	breast:
3	chr1:9599435..9600197-chr12:32968231..32968731,2	Hela-S3	cervix:
4	chr12:32978242..32979816-chr12:32981805..32984184,2	MCF-7	breast:
5	chr12:32988171..32990454-chr12:32990868..32992937,2	K562	blood:
6	chr12:32978242..32979816-chr12:32981805..32984184,2	MCF-7	breast:
7	chr12:32988171..32990454-chr12:32990868..32992937,2	K562	blood:
8	chr12:32992711..32993211-chr17:43463747..43464248,2	MCF-7	breast:

Variant related genes	Relation type
PKP2	TF binding region
ENSG00000171612	chromatin interactions
ENSG00000139131	chromatin interactions

Extended variants
information (count: 1153 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1153 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137971130	chr12:32966203-32966204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569154162	chr12:32966284-32966285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370680324	chr12:32966401-32966402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539378462	chr12:32966411-32966412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577581355	chr12:32966478-32966479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373788830	chr12:32966501-32966502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574648936	chr12:32966556-32966557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540254271	chr12:32966575-32966576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560168253	chr12:32966598-32966599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149409979	chr12:32966669-32966670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186237289	chr12:32966839-32966840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189984579	chr12:32966901-32966902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530648032	chr12:32966921-32966922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182269693	chr12:32966958-32966959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78360314	chr12:32967044-32967045	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140202063	chr12:32967123-32967124	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546619783	chr12:32967154-32967155	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558014644	chr12:32967165-32967166	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75972068	chr12:32967211-32967212	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535524722	chr12:32967278-32967279	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370109050	chr12:32967307-32967308	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569410521	chr12:32967338-32967339	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188080962	chr12:32967361-32967362	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566588295	chr12:32967393-32967394	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191056372	chr12:32967400-32967401	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571612196	chr12:32967410-32967411	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533893630	chr12:32967446-32967447	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73301783	chr12:32967535-32967536	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373593265	chr12:32967614-32967615	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183680200	chr12:32967631-32967632	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188733893	chr12:32967640-32967641	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192853049	chr12:32967679-32967680	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575358969	chr12:32967686-32967687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544095273	chr12:32967709-32967710	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564325171	chr12:32967756-32967757	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533273165	chr12:32967757-32967758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540572477	chr12:32967774-32967775	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538814534	chr12:32967813-32967814	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555898003	chr12:32967821-32967822	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184986818	chr12:32967835-32967836	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186938676	chr12:32967865-32967866	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191435959	chr12:32967866-32967867	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551569619	chr12:32967904-32967905	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147325518	chr12:32967925-32967926	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140756668	chr12:32967939-32967940	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138048759	chr12:32967974-32967975	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367769681	chr12:32968006-32968007	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183606376	chr12:32968010-32968011	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567638542	chr12:32968021-32968022	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377071690	chr12:32968108-32968109	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21272361	CNVD

Chromatin state (count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32941800-33033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:32943800-33026800	Weak transcription	Fetal Kidney	kidney
3	chr12:32944200-32989400	Weak transcription	Hela-S3	cervix
4	chr12:32945800-32972400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:32946000-32973600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:32946600-32967200	Weak transcription	Stomach Mucosa	stomach
7	chr12:32949200-32975200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:32949200-32987000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:32949200-33007800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:32954400-32968800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:32960200-32969200	Weak transcription	Small Intestine	intestine
12	chr12:32961000-32989800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:32961400-32969400	Strong transcription	NHEK	skin
14	chr12:32961400-32971000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:32961800-32973400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:32961800-32974800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:32962000-32973600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:32962200-32969200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:32962200-32974000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:32962400-32970600	Weak transcription	Fetal Stomach	stomach
21	chr12:32962400-32973400	Weak transcription	Gastric	stomach
22	chr12:32962400-32973400	Weak transcription	Right Atrium	heart
23	chr12:32962600-32973400	Weak transcription	Pancreas	Pancrea
24	chr12:32962800-32967000	Weak transcription	Right Ventricle	heart
25	chr12:32963000-32968200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:32963000-32970600	Weak transcription	Fetal Intestine Small	intestine
27	chr12:32963000-32986800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:32963200-32967000	Weak transcription	Placenta	Placenta
29	chr12:32963400-32968800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:32964400-32969000	Weak transcription	Fetal Intestine Large	intestine
31	chr12:32964400-32970600	Weak transcription	Left Ventricle	heart
32	chr12:32964400-32973400	Weak transcription	Colonic Mucosa	Colon
33	chr12:32964600-32970200	Weak transcription	HMEC	breast
34	chr12:32965000-32966400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:32965000-32969200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:32965000-32970400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:32965000-32970600	Weak transcription	HepG2	liver
38	chr12:32965000-32972400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:32965000-32977800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:32965000-32996200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:32965200-32966400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:32965200-32966600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:32965200-32967000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:32965400-32967000	Weak transcription	Liver	Liver
45	chr12:32965400-32967000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:32965400-32967400	Weak transcription	Fetal Brain Male	brain
47	chr12:32965400-32967400	Weak transcription	Fetal Heart	heart
48	chr12:32965400-32972600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:32966400-32967400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:32966400-32967400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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