Variant report

Variant	esv2755321
Chromosome Location	chr6:120726829-120855431
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	chr6:120777300-120777333	K562	blood:	n/a	n/a
2	BHLHE40	chr6:120732296-120732329	HepG2	liver:	n/a	n/a
3	CBX3	chr6:120836673-120837109	HCT-116	colon:	n/a	n/a
4	CBX3	chr6:120799734-120800274	HCT-116	colon:	n/a	n/a
5	CBX3	chr6:120799911-120800206	HCT-116	colon:	n/a	n/a
6	CEBPB	chr6:120814727-120814987	HepG2	liver:	n/a	chr6:120814900-120814911 chr6:120814902-120814913 chr6:120814900-120814913 chr6:120814888-120814899
7	CEBPB	chr6:120814716-120815058	A549	lung:	n/a	chr6:120814900-120814911 chr6:120814992-120815004 chr6:120814902-120814913 chr6:120814900-120814913 chr6:120814888-120814899
8	CEBPB	chr6:120814746-120815061	IMR90	lung:	n/a	chr6:120814900-120814911 chr6:120814992-120815004 chr6:120814902-120814913 chr6:120814900-120814913 chr6:120814888-120814899
9	CEBPB	chr6:120814675-120815082	Hela-S3	cervix:	n/a	chr6:120814900-120814911 chr6:120814992-120815004 chr6:120814902-120814913 chr6:120814900-120814913 chr6:120814888-120814899
10	CEBPB	chr6:120765328-120765417	HepG2	liver:	n/a	n/a
11	CEBPB	chr6:120817626-120817900	HepG2	liver:	n/a	chr6:120817782-120817795 chr6:120817782-120817793 chr6:120817782-120817795 chr6:120817784-120817795 chr6:120817784-120817793 chr6:120817784-120817793 chr6:120817784-120817793 chr6:120817784-120817793
12	CEBPB	chr6:120766458-120766672	HepG2	liver:	n/a	chr6:120766564-120766575 chr6:120766566-120766577 chr6:120766564-120766577
13	CEBPB	chr6:120741595-120741614	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr6:120727012-120727549	HCT-116	colon:	n/a	n/a
15	CTCF	chr6:120727200-120727350	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr6:120727134-120727407	MCF-7	breast:	n/a	n/a
17	CTCF	chr6:120727180-120727330	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr6:120727180-120727330	HA-sp	spinal cord:	n/a	n/a
19	CTCF	chr6:120727200-120727350	HepG2	liver:	n/a	n/a
20	CTCF	chr6:120727200-120727350	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr6:120727051-120727540	MCF-7	breast:	n/a	n/a
22	CTCF	chr6:120727180-120727330	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr6:120727220-120727370	HMF	breast:	n/a	n/a
24	CTCF	chr6:120727140-120727290	HPF	lung:	n/a	n/a
25	CTCF	chr6:120727160-120727310	MCF-7	breast:	n/a	n/a
26	CTCF	chr6:120727165-120727352	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr6:120727135-120727353	Medullo	brain:	n/a	n/a
28	CTCF	chr6:120726700-120726850	HAc	cerebellar:	n/a	n/a
29	CTCF	chr6:120727240-120727390	HRE	kidney:	n/a	n/a
30	CTCF	chr6:120727141-120727451	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr6:120727220-120727370	HPF	lung:	n/a	n/a
32	CTCF	chr6:120727251-120727328	MCF-7	breast:	n/a	n/a
33	CTCF	chr6:120727140-120727372	LNCaP	prostate:	n/a	n/a
34	CTCF	chr6:120727160-120727310	HRPEpiC	eye:	n/a	n/a
35	CTCF	chr6:120727180-120727330	GM12874	blood:	n/a	n/a
36	CTCF	chr6:120766680-120766830	HCT-116	colon:	n/a	n/a
37	CTCF	chr6:120727171-120727329	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr6:120766740-120766890	BE2_C	brain:	n/a	n/a
39	CTCF	chr6:120727180-120727330	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr6:120727200-120727350	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr6:120727240-120727390	GM12874	blood:	n/a	n/a
42	CTCF	chr6:120727143-120727388	HepG2	liver:	n/a	n/a
43	CTCF	chr6:120727192-120727342	Gliobla	brain:	n/a	n/a
44	CTCF	chr6:120727007-120727396	MCF-7	breast:	n/a	n/a
45	CTCF	chr6:120827593-120827716	GM20000	blood:	n/a	n/a
46	CTCF	chr6:120727180-120727330	NHEK	skin:	n/a	n/a
47	CTCF	chr6:120727180-120727330	HMF	breast:	n/a	n/a
48	CTCF	chr6:120727160-120727310	HCM	heart:	n/a	n/a
49	CTCF	chr6:120727228-120727319	GM12878	blood:	n/a	n/a
50	CTCF	chr6:120749400-120749550	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:120727187..120727711-chr6:121085206..121086111,2	MCF-7	breast:
2	chr6:120727203..120727781-chr6:121331449..121332021,2	MCF-7	breast:
3	chr6:120727129..120727677-chr6:121147123..121147638,2	MCF-7	breast:
4	chr6:120822631..120824967-chr6:120825069..120827179,2	MCF-7	breast:
5	chr6:120822631..120824967-chr6:120825069..120827179,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-214P	TF binding region

Extended variants
information (count: 513 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:513 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193104659	chr6:120752622-120752623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148108703	chr6:120752626-120752627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535970800	chr6:120752649-120752650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556323970	chr6:120752652-120752653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576270474	chr6:120752704-120752705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185018951	chr6:120752708-120752709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559159368	chr6:120752814-120752815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62424451	chr6:120752821-120752822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143927495	chr6:120752823-120752824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9489951	chr6:120752826-120752827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs147277401	chr6:120752827-120752828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190652762	chr6:120752849-120752850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192434070	chr6:120752854-120752855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183853887	chr6:120752861-120752862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138076867	chr6:120752885-120752886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6937194	chr6:120752983-120752984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551195420	chr6:120752989-120752990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527611882	chr6:120753043-120753044	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111497768	chr6:120753073-120753074	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547347414	chr6:120753088-120753089	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566957962	chr6:120753106-120753107	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535932864	chr6:120753126-120753127	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117153974	chr6:120753138-120753139	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569416011	chr6:120753159-120753160	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117867449	chr6:120753171-120753172	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533660757	chr6:120753180-120753181	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143634505	chr6:120753209-120753210	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555305771	chr6:120753240-120753241	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150588764	chr6:120753242-120753243	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573563681	chr6:120753248-120753249	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535037557	chr6:120753257-120753258	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139660330	chr6:120753260-120753261	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574930588	chr6:120753262-120753263	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543839261	chr6:120753263-120753264	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188227908	chr6:120753276-120753277	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577429135	chr6:120753283-120753284	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9387761	chr6:120753289-120753290	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs564959593	chr6:120753290-120753291	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181365689	chr6:120753292-120753293	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116464216	chr6:120753301-120753302	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560549350	chr6:120753325-120753326	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538557856	chr6:120753328-120753329	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549376986	chr6:120753333-120753334	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556578114	chr6:120753351-120753352	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9387762	chr6:120753352-120753353	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs371813321	chr6:120753411-120753412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115122575	chr6:120753435-120753436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566180108	chr6:120753450-120753451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9387763	chr6:120753457-120753458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs139116986	chr6:120753492-120753493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120752600-120753000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:120753000-120753400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:120753400-120754000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:120754000-120754200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:120768400-120769000	Enhancers	Fetal Muscle Leg	muscle
6	chr6:120786400-120786600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:120787200-120787800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:120787200-120788400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr6:120787400-120787800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr6:120787600-120788600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr6:120787800-120789200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:120788400-120789200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:120788600-120789200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:120789200-120789400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr6:120789200-120789800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr6:120789200-120790000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr6:120789200-120790200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:120789400-120789600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr6:120789400-120790200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr6:120789800-120790400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr6:120792200-120793200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr6:120799800-120800200	Active TSS	Right Atrium	heart
23	chr6:120805000-120805400	Enhancers	HMEC	breast
24	chr6:120848800-120849000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:120849000-120849600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:120849600-120850600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr6:120850600-120851200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:120851200-120851400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links