Variant report

Variant	esv1820619
Chromosome Location	chr6:132019748-132035688
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr6:132034147-132034452	K562	blood:	n/a	n/a
2	CTCF	chr6:132022117-132022267	ProgFib	skin:	n/a	n/a
3	CTCF	chr6:132027601-132027612	ProgFib	skin:	n/a	n/a
4	CTCF	chr6:132022076-132022305	K562	blood:	n/a	n/a
5	CTCF	chr6:132022096-132022268	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr6:132021979-132022346	K562	blood:	n/a	n/a
7	CTCF	chr6:132022089-132022257	GM19238	blood:	n/a	n/a
8	CTCF	chr6:132022107-132022277	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr6:132022137-132022241	NHEK	skin:	n/a	n/a
10	CTCF	chr6:132022109-132022292	K562	blood:	n/a	n/a
11	CTCF	chr6:132022074-132022324	MCF-7	breast:	n/a	n/a
12	CTCF	chr6:132022126-132022204	GM19240	blood:	n/a	n/a
13	CTCF	chr6:132022143-132022237	GM19239	blood:	n/a	n/a
14	CTCF	chr6:132022012-132022342	K562	blood:	n/a	n/a
15	CTCF	chr6:132022093-132022270	GM12891	blood:	n/a	n/a
16	CTCF	chr6:132022135-132022248	GM12878	blood:	n/a	n/a
17	CTCF	chr6:132022073-132022336	MCF-7	breast:	n/a	n/a
18	CTCF	chr6:132022069-132022320	MCF-7	breast:	n/a	n/a
19	CTCF	chr6:132022070-132022336	MCF-7	breast:	n/a	n/a
20	CTCF	chr6:132022117-132022244	Fibrobl	skin:	n/a	n/a
21	CTCF	chr6:132022158-132022225	GM13976	blood:	n/a	n/a
22	CTCF	chr6:132022091-132022323	Gliobla	brain:	n/a	n/a
23	CTCF	chr6:132022155-132022236	GM13977	blood:	n/a	n/a
24	CTCF	chr6:132022068-132022338	A549	lung:	n/a	n/a
25	CTCF	chr6:132022083-132022339	A549	lung:	n/a	n/a
26	CTCF	chr6:132022106-132022288	HepG2	liver:	n/a	n/a
27	CTCF	chr6:132022136-132022248	LNCaP	prostate:	n/a	n/a
28	CTCF	chr6:132022074-132022341	MCF-7	breast:	n/a	n/a
29	EP300	chr6:132031961-132032234	GM12878	blood:	n/a	n/a
30	EP300	chr6:132029788-132030162	GM12878	blood:	n/a	n/a
31	EP300	chr6:132031369-132031959	GM12878	blood:	n/a	n/a
32	EP300	chr6:132030218-132030648	GM12878	blood:	n/a	n/a
33	GATA2	chr6:132034190-132034429	K562	blood:	n/a	n/a
34	GATA2	chr6:132031889-132032150	K562	blood:	n/a	n/a
35	HEY1	chr6:132031079-132031391	K562	blood:	n/a	n/a
36	JUND	chr6:132032117-132032337	HepG2	liver:	n/a	n/a
37	MYC	chr6:132022258-132022272	MCF-7	breast:	n/a	n/a
38	MYC	chr6:132022208-132022222	MCF-7	breast:	n/a	n/a
39	MYC	chr6:132022198-132022203	MCF-7	breast:	n/a	n/a
40	MYC	chr6:132022286-132022288	MCF-7	breast:	n/a	n/a
41	MYC	chr6:132022317-132022337	MCF-7	breast:	n/a	n/a
42	MYC	chr6:132022246-132022248	MCF-7	breast:	n/a	n/a
43	MYC	chr6:132022274-132022332	H1-hESC	embryonic stem cell:	n/a	n/a
44	MYC	chr6:132022182-132022188	MCF-7	breast:	n/a	n/a
45	MYC	chr6:132022170-132022177	MCF-7	breast:	n/a	n/a
46	MYC	chr6:132022282-132022386	MCF-7	breast:	n/a	n/a
47	MYC	chr6:132022225-132022310	MCF-7	breast:	n/a	n/a
48	MYC	chr6:132022250-132022251	MCF-7	breast:	n/a	n/a
49	PAX5	chr6:132030617-132030941	GM12878	blood:	n/a	n/a
50	PAX5	chr6:132034215-132034400	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:132031294-132031344	HUVEC	blood vessel:	n/a
2	chr6:132031294-132031344	NB4	blood:	n/a
3	chr6:132022490-132022540	HRCEpiC	kidney:	n/a
4	chr6:132032407-132032457	SK-N-SH	brain:	n/a
5	chr6:132031294-132031344	GM06990	blood:	n/a
6	chr6:132022490-132022540	SK-N-SH_RA	brain:	n/a
7	chr6:132022490-132022540	PFSK-1	brain:	n/a
8	chr6:132022490-132022540	BE2_C	brain:	n/a
9	chr6:132022490-132022540	HCF	heart:	n/a
10	chr6:132032407-132032457	HEEpiC	esophagus:	n/a
11	chr6:132031294-132031344	HEEpiC	esophagus:	n/a
12	chr6:132022490-132022540	HUVEC	blood vessel:	n/a
13	chr6:132031294-132031344	HCF	heart:	n/a
14	chr6:132031294-132031344	HPAEpiC	pulmonary alveolar:	n/a
15	chr6:132031294-132031344	AG04450	lung:	fetal
16	chr6:132031294-132031344	Caco-2	colon:	n/a
17	chr6:132022490-132022540	AG04449	skin:	fetal
18	chr6:132022490-132022540	K562	blood:	n/a
19	chr6:132022490-132022540	LNCaP	prostate:	n/a
20	chr6:132032407-132032457	BJ	skin:	n/a
21	chr6:132022490-132022540	SAEC	small airway:	n/a
22	chr6:132031294-132031344	HAEpiC	amniotic membrane:	n/a
23	chr6:132031294-132031344	PANC-1	pancreas:	n/a
24	chr6:132031294-132031344	AG04449	skin:	fetal
25	chr6:132031294-132031344	AG10803	skin:	n/a
26	chr6:132032407-132032457	LNCaP	prostate:	n/a
27	chr6:132031294-132031344	HIPEpiC	eye:	n/a
28	chr6:132022490-132022540	AG10803	skin:	n/a
29	chr6:132022490-132022540	IMR90	lung:	fetal
30	chr6:132031294-132031344	MCF-7	breast:	n/a
31	chr6:132032407-132032457	AG04449	skin:	fetal
32	chr6:132032407-132032457	Hepatocyte	liver:	n/a
33	chr6:132032407-132032457	AG09319	gingival:	n/a
34	chr6:132022490-132022540	AG04450	lung:	fetal
35	chr6:132031294-132031344	ProgFib	skin:	n/a
36	chr6:132032407-132032457	HCM	heart:	n/a
37	chr6:132031294-132031344	H1-hESC	embryonic stem cell:	embryo
38	chr6:132032407-132032457	HNPCEpiC	eye:	n/a
39	chr6:132032407-132032457	MCF-7	breast:	n/a
40	chr6:132031294-132031344	A549	lung:	n/a
41	chr6:132031294-132031344	NHBE	bronchial:	n/a
42	chr6:132031294-132031344	SK-N-SH	brain:	n/a
43	chr6:132022490-132022540	AG09309	skin:	n/a
44	chr6:132031294-132031344	LNCaP	prostate:	n/a
45	chr6:132022490-132022540	HEK293	kidney:	embryo
46	chr6:132032407-132032457	AoSMC	blood vessel:	n/a
47	chr6:132022490-132022540	GM12878	blood:	n/a
48	chr6:132032407-132032457	HAEpiC	amniotic membrane:	n/a
49	chr6:132032407-132032457	HCF	heart:	n/a
50	chr6:132022490-132022540	NB4	blood:	n/a

No data

Variant related genes	Relation type
CTAGE9	TF binding region
OR2A4	TF binding region
CTAGE9	CpG island
OR2A4	CpG island

Extended variants
information (count: 309 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371313472	chr6:132019748-132019749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62423420	chr6:132020035-132020036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369673688	chr6:132020089-132020090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377303508	chr6:132020152-132020153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200744994	chr6:132020216-132020217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568567488	chr6:132020300-132020301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62423421	chr6:132020319-132020320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186934746	chr6:132020327-132020328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62423422	chr6:132020340-132020341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535940716	chr6:132020361-132020362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77300673	chr6:132020385-132020386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4053087	chr6:132020396-132020397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201882942	chr6:132020531-132020532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199875993	chr6:132020615-132020616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375371601	chr6:132020643-132020644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572490409	chr6:132020696-132020697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372554364	chr6:132020702-132020703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535358941	chr6:132020710-132020711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553365345	chr6:132020716-132020717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375992448	chr6:132020729-132020730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374621478	chr6:132020733-132020734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200890886	chr6:132020845-132020846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563867866	chr6:132020950-132020951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62423423	chr6:132021023-132021024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575846351	chr6:132021043-132021044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62423424	chr6:132021076-132021077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62423425	chr6:132021120-132021121	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
28	rs113536491	chr6:132021161-132021162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543125111	chr6:132021456-132021457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561295414	chr6:132021594-132021595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528466849	chr6:132021643-132021644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376378770	chr6:132021669-132021670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148349297	chr6:132021707-132021708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145289654	chr6:132021722-132021723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148863975	chr6:132021739-132021740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551502099	chr6:132021843-132021844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369990193	chr6:132021865-132021866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564990781	chr6:132021916-132021917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532339492	chr6:132021944-132021945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550549459	chr6:132021952-132021953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568702637	chr6:132022005-132022006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529773627	chr6:132022176-132022177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547862851	chr6:132022182-132022183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566155236	chr6:132022192-132022193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533521506	chr6:132022251-132022252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553639548	chr6:132022256-132022257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199675686	chr6:132022285-132022286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62423426	chr6:132022286-132022287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200491849	chr6:132022306-132022307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374326295	chr6:132022331-132022332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Autism	22495311	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
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131993600-132020600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:131998600-132054000	Weak transcription	Fetal Intestine Small	intestine
3	chr6:131998800-132043000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:131999400-132020600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:132002600-132054400	Weak transcription	K562	blood
6	chr6:132019000-132020800	Weak transcription	Fetal Intestine Large	intestine
7	chr6:132019400-132040200	Weak transcription	HepG2	liver
8	chr6:132019400-132041400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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