Variant report

Variant	esv1810897
Chromosome Location	chr6:132018366-132045096
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:167)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:167 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:132018211-132018451	GM12878	blood:	n/a	chr6:132018367-132018378
2	CBX3	chr6:132034147-132034452	K562	blood:	n/a	n/a
3	CCNT2	chr6:132038948-132039148	K562	blood:	n/a	n/a
4	CTCF	chr6:132022143-132022237	GM19239	blood:	n/a	n/a
5	CTCF	chr6:132022076-132022305	K562	blood:	n/a	n/a
6	CTCF	chr6:132027601-132027612	ProgFib	skin:	n/a	n/a
7	CTCF	chr6:132022155-132022236	GM13977	blood:	n/a	n/a
8	CTCF	chr6:132036923-132037095	GM12878	blood:	n/a	n/a
9	CTCF	chr6:132022074-132022341	MCF-7	breast:	n/a	n/a
10	CTCF	chr6:132022083-132022339	A549	lung:	n/a	n/a
11	CTCF	chr6:132036891-132037204	K562	blood:	n/a	n/a
12	CTCF	chr6:132037010-132037067	GM19239	blood:	n/a	n/a
13	CTCF	chr6:132022106-132022288	HepG2	liver:	n/a	n/a
14	CTCF	chr6:132022158-132022225	GM13976	blood:	n/a	n/a
15	CTCF	chr6:132036725-132036791	GM13977	blood:	n/a	n/a
16	CTCF	chr6:132036780-132036930	GM12864	blood:	n/a	n/a
17	CTCF	chr6:132036927-132037085	GM12891	blood:	n/a	n/a
18	CTCF	chr6:132036720-132036870	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr6:132022135-132022248	GM12878	blood:	n/a	n/a
20	CTCF	chr6:132036784-132037239	K562	blood:	n/a	n/a
21	CTCF	chr6:132022109-132022292	K562	blood:	n/a	n/a
22	CTCF	chr6:132036849-132037059	Gliobla	brain:	n/a	n/a
23	CTCF	chr6:132022137-132022241	NHEK	skin:	n/a	n/a
24	CTCF	chr6:132022089-132022257	GM19238	blood:	n/a	n/a
25	CTCF	chr6:132022117-132022244	Fibrobl	skin:	n/a	n/a
26	CTCF	chr6:132022068-132022338	A549	lung:	n/a	n/a
27	CTCF	chr6:132036720-132036870	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr6:132022136-132022248	LNCaP	prostate:	n/a	n/a
29	CTCF	chr6:132036915-132037120	K562	blood:	n/a	n/a
30	CTCF	chr6:132022070-132022336	MCF-7	breast:	n/a	n/a
31	CTCF	chr6:132036728-132036846	Gliobla	brain:	n/a	n/a
32	CTCF	chr6:132036904-132037084	GM19238	blood:	n/a	n/a
33	CTCF	chr6:132036936-132036994	GM19239	blood:	n/a	n/a
34	CTCF	chr6:132022012-132022342	K562	blood:	n/a	n/a
35	CTCF	chr6:132036909-132036995	ProgFib	skin:	n/a	n/a
36	CTCF	chr6:132022117-132022267	ProgFib	skin:	n/a	n/a
37	CTCF	chr6:132022073-132022336	MCF-7	breast:	n/a	n/a
38	CTCF	chr6:132022093-132022270	GM12891	blood:	n/a	n/a
39	CTCF	chr6:132021979-132022346	K562	blood:	n/a	n/a
40	CTCF	chr6:132036984-132037123	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr6:132022091-132022323	Gliobla	brain:	n/a	n/a
42	CTCF	chr6:132022126-132022204	GM19240	blood:	n/a	n/a
43	CTCF	chr6:132036966-132037117	GM19240	blood:	n/a	n/a
44	CTCF	chr6:132036904-132037058	A549	lung:	n/a	n/a
45	CTCF	chr6:132036932-132037090	MCF-7	breast:	n/a	n/a
46	CTCF	chr6:132036987-132037116	K562	blood:	n/a	n/a
47	CTCF	chr6:132036911-132037133	A549	lung:	n/a	n/a
48	CTCF	chr6:132036757-132036815	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr6:132036916-132037051	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr6:132036800-132036950	HEEpiC	esophagus:	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	SAEC	small airway:	n/a
2	chr6:132031294-132031344	HUVEC	blood vessel:	n/a
3	chr6:132032407-132032457	GM06990	blood:	n/a
4	chr6:132032407-132032457	AoSMC	blood vessel:	n/a
5	chr6:132022490-132022540	HMEC	breast:	n/a
6	chr6:132022490-132022540	HIPEpiC	eye:	n/a
7	chr6:132032407-132032457	BJ	skin:	n/a
8	chr6:132022490-132022540	U87	brain:	n/a
9	chr6:132031294-132031344	HMEC	breast:	n/a
10	chr6:132022490-132022540	PrEC	prostate:	n/a
11	chr6:132022490-132022540	H1-hESC	embryonic stem cell:	embryo
12	chr6:132022490-132022540	GM19239	blood:	n/a
13	chr6:132032407-132032457	HAEpiC	amniotic membrane:	n/a
14	chr6:132022490-132022540	HepG2	liver:	n/a
15	chr6:132022490-132022540	NB4	blood:	n/a
16	chr6:132022490-132022540	Hela-S3	cervix:	n/a
17	chr6:132022490-132022540	HRE	kidney:	n/a
18	chr6:132032407-132032457	HCM	heart:	n/a
19	chr6:132022490-132022540	AG09319	gingival:	n/a
20	chr6:132022490-132022540	SK-N-SH_RA	brain:	n/a
21	chr6:132032407-132032457	ECC-1	luminal epithelium:	n/a
22	chr6:132022490-132022540	Jurkat	blood:	n/a
23	chr6:132031294-132031344	PrEC	prostate:	n/a
24	chr6:132031294-132031344	LNCaP	prostate:	n/a
25	chr6:132031294-132031344	IMR90	lung:	fetal
26	chr6:132031294-132031344	T-47D	breast:	n/a
27	chr6:132032407-132032457	Caco-2	colon:	n/a
28	chr6:132022490-132022540	A549	lung:	n/a
29	chr6:132022490-132022540	HRPEpiC	eye:	n/a
30	chr6:132031294-132031344	ECC-1	luminal epithelium:	n/a
31	chr6:132032407-132032457	MCF-7	breast:	n/a
32	chr6:132032407-132032457	HNPCEpiC	eye:	n/a
33	chr6:132032407-132032457	NB4	blood:	n/a
34	chr6:132022490-132022540	SK-N-SH	brain:	n/a
35	chr6:132032407-132032457	K562	blood:	n/a
36	chr6:132032407-132032457	NH-A	brain:	n/a
37	chr6:132022490-132022540	PANC-1	pancreas:	n/a
38	chr6:132031294-132031344	NB4	blood:	n/a
39	chr6:132032407-132032457	H1-hESC	embryonic stem cell:	embryo
40	chr6:132032407-132032457	HCF	heart:	n/a
41	chr6:132022490-132022540	Caco-2	colon:	n/a
42	chr6:132032407-132032457	HCT-116	colon:	n/a
43	chr6:132022490-132022540	CMK	blood:	n/a
44	chr6:132031294-132031344	HCPEpiC	choroid plexus:	n/a
45	chr6:132032407-132032457	SKMC	muscle:	n/a
46	chr6:132022490-132022540	HRCEpiC	kidney:	n/a
47	chr6:132031294-132031344	PFSK-1	brain:	n/a
48	chr6:132022490-132022540	AG04449	skin:	fetal
49	chr6:132022490-132022540	SK-N-MC	brain:	n/a
50	chr6:132031294-132031344	HEK293	kidney:	embryo

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: 741 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:741 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575107381	chr6:132018383-132018384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369279582	chr6:132018400-132018401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375567682	chr6:132018449-132018450	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150476117	chr6:132018465-132018466	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562008583	chr6:132018482-132018483	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529457605	chr6:132018496-132018497	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373386970	chr6:132018506-132018507	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541183515	chr6:132018535-132018536	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538771572	chr6:132018536-132018537	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533511688	chr6:132018542-132018543	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558372125	chr6:132018583-132018584	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570062135	chr6:132018604-132018605	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146637657	chr6:132018623-132018624	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55816221	chr6:132018634-132018635	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140788186	chr6:132018674-132018675	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549305676	chr6:132018676-132018677	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567519119	chr6:132018677-132018678	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74582701	chr6:132018743-132018744	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190669159	chr6:132018773-132018774	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546813779	chr6:132018798-132018799	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116500849	chr6:132018805-132018806	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538752643	chr6:132018829-132018830	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144628855	chr6:132018845-132018846	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574269163	chr6:132018846-132018847	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372585765	chr6:132018847-132018848	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9493057	chr6:132018886-132018887	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs565347723	chr6:132018892-132018893	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35916337	chr6:132018978-132018979	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535807347	chr6:132018986-132018987	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555645575	chr6:132018987-132018988	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574044878	chr6:132019032-132019033	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541319181	chr6:132019061-132019062	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373718433	chr6:132019067-132019068	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559930845	chr6:132019099-132019100	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578094540	chr6:132019101-132019102	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545507624	chr6:132019102-132019103	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376257787	chr6:132019113-132019114	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374598067	chr6:132019242-132019243	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563598725	chr6:132019245-132019246	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530929820	chr6:132019251-132019252	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182328979	chr6:132019289-132019290	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62423417	chr6:132019320-132019321	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs77305115	chr6:132019347-132019348	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528426256	chr6:132019348-132019349	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546556724	chr6:132019357-132019358	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62423418	chr6:132019422-132019423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367563935	chr6:132019464-132019465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551204131	chr6:132019476-132019477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538419772	chr6:132019519-132019520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199582426	chr6:132019724-132019725	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:34 , 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	chr6:132014600-132019400	Strong transcription	HepG2	liver
7	chr6:132015200-132018400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:132017400-132019400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:132017600-132019000	Strong transcription	Fetal Intestine Large	intestine
10	chr6:132019000-132020800	Weak transcription	Fetal Intestine Large	intestine
11	chr6:132019400-132040200	Weak transcription	HepG2	liver
12	chr6:132019400-132041400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:132040200-132047400	Strong transcription	HepG2	liver
14	chr6:132040600-132043600	Weak transcription	Fetal Intestine Large	intestine
15	chr6:132040600-132063200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:132041400-132048600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:132041600-132043200	Weak transcription	Liver	Liver
18	chr6:132042400-132043000	Enhancers	Fetal Kidney	kidney
19	chr6:132043000-132044000	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr6:132043000-132049800	Weak transcription	Fetal Kidney	kidney
21	chr6:132043200-132043400	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr6:132043200-132043800	Strong transcription	Liver	Liver
23	chr6:132043400-132044200	Enhancers	Gastric	stomach
24	chr6:132043400-132047200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:132043600-132044200	Enhancers	Stomach Mucosa	stomach
26	chr6:132043600-132044800	Strong transcription	Fetal Intestine Large	intestine
27	chr6:132043800-132044000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:132043800-132047200	Weak transcription	Liver	Liver
29	chr6:132044000-132047600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr6:132044200-132055400	Weak transcription	Colonic Mucosa	Colon
31	chr6:132044600-132044800	Enhancers	Pancreas	Pancrea
32	chr6:132044800-132054400	Weak transcription	Fetal Intestine Large	intestine
33	chr6:132045000-132045400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr6:132045000-132045400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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