Variant report

Variant	esv3446643
Chromosome Location	chr6:160767862-160771710
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	ARID3A	chr6:160770131-160770411	HepG2	liver:	n/a	n/a
2	BACH1	chr6:160769577-160769970	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr6:160769938-160770459	Hela-S3	cervix:	n/a	n/a
4	BRCA1	chr6:160768706-160769015	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr6:160769978-160770044	HepG2	liver:	n/a	n/a
6	CEBPB	chr6:160770240-160770536	HepG2	liver:	n/a	n/a
7	CEBPD	chr6:160770091-160770435	HepG2	liver:	n/a	n/a
8	CEBPD	chr6:160769058-160769495	HepG2	liver:	n/a	n/a
9	CHD1	chr6:160769874-160770251	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr6:160771080-160771097	HepG2	liver:	n/a	n/a
11	CHD2	chr6:160768773-160770364	Hela-S3	cervix:	n/a	chr6:160769361-160769371
12	CHD2	chr6:160769873-160770482	HepG2	liver:	n/a	n/a
13	CREB1	chr6:160768711-160769598	A549	lung:	n/a	n/a
14	CTBP2	chr6:160768280-160770234	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr6:160769860-160770010	HMF	breast:	n/a	chr6:160769964-160769973
16	CTCF	chr6:160769960-160770110	AG09319	gingival:	n/a	chr6:160769964-160769973
17	CTCF	chr6:160771100-160771250	HepG2	liver:	n/a	n/a
18	CTCF	chr6:160769900-160770050	BJ	skin:	n/a	chr6:160769964-160769973
19	CTCF	chr6:160769920-160770070	NHEK	skin:	n/a	chr6:160769964-160769973
20	CTCF	chr6:160769900-160770050	HepG2	liver:	n/a	chr6:160769964-160769973
21	CTCF	chr6:160769891-160770029	A549	lung:	n/a	chr6:160769964-160769973
22	CTCF	chr6:160769840-160769990	RPTEC	kidney:	n/a	chr6:160769964-160769973
23	CTCF	chr6:160769920-160770070	HVMF	connective:	n/a	chr6:160769964-160769973
24	CTCF	chr6:160769900-160770050	Hela-S3	cervix:	n/a	chr6:160769964-160769973
25	CTCF	chr6:160769840-160769990	A549	lung:	n/a	chr6:160769964-160769973
26	CTCF	chr6:160769960-160770110	HEEpiC	esophagus:	n/a	chr6:160769964-160769973
27	CTCF	chr6:160769747-160769793	A549	lung:	n/a	n/a
28	CTCF	chr6:160769840-160769990	HMF	breast:	n/a	chr6:160769964-160769973
29	CTCF	chr6:160769640-160769790	RPTEC	kidney:	n/a	n/a
30	CTCF	chr6:160769920-160770070	HepG2	liver:	n/a	chr6:160769964-160769973
31	CTCF	chr6:160769840-160769990	HVMF	connective:	n/a	chr6:160769964-160769973
32	CTCF	chr6:160769600-160769750	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr6:160769780-160769930	NHDF-neo	bronchial:	n/a	n/a
34	CTCF	chr6:160769870-160770066	Fibrobl	skin:	n/a	chr6:160769964-160769973
35	CTCF	chr6:160769860-160770010	HA-sp	spinal cord:	n/a	chr6:160769964-160769973
36	CTCF	chr6:160769940-160770090	HAc	cerebellar:	n/a	chr6:160769964-160769973
37	CTCF	chr6:160769828-160769997	Pancreas_OC	pancreas:	n/a	chr6:160769964-160769973
38	CTCF	chr6:160769860-160770010	HRE	kidney:	n/a	chr6:160769964-160769973
39	CTCF	chr6:160769900-160770050	HRPEpiC	eye:	n/a	chr6:160769964-160769973
40	CTCF	chr6:160769900-160770050	HEK293	kidney:	n/a	chr6:160769964-160769973
41	CTCF	chr6:160769920-160770070	HRE	kidney:	n/a	chr6:160769964-160769973
42	CTCF	chr6:160769980-160770130	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr6:160769940-160770090	HEK293	kidney:	n/a	chr6:160769964-160769973
44	CTCF	chr6:160769837-160769852	Fibrobl	skin:	n/a	n/a
45	CTCF	chr6:160769820-160769970	AG04449	skin:	n/a	n/a
46	CTCF	chr6:160769980-160770130	SAEC	small airway:	n/a	n/a
47	CTCF	chr6:160769920-160770070	HPAF	blood vessel:	n/a	chr6:160769964-160769973
48	CTCF	chr6:160769920-160770070	RPTEC	kidney:	n/a	chr6:160769964-160769973
49	CTCF	chr6:160769820-160769970	A549	lung:	n/a	n/a
50	CTCF	chr6:160770000-160770150	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:160771574-160771624	ECC-1	luminal epithelium:	n/a
2	chr6:160771574-160771624	RPTEC	kidney:	n/a
3	chr6:160769114-160769164	PrEC	prostate:	n/a
4	chr6:160771074-160771124	HL-60	blood:	n/a
5	chr6:160770346-160770396	MCF-7	breast:	n/a
6	chr6:160770090-160770140	AG09309	skin:	n/a
7	chr6:160769359-160769409	CMK	blood:	n/a
8	chr6:160769754-160769804	IMR90	lung:	fetal
9	chr6:160768369-160768419	T-47D	breast:	n/a
10	chr6:160769116-160769166	AG09319	gingival:	n/a
11	chr6:160769116-160769166	AG09309	skin:	n/a
12	chr6:160771574-160771624	AG09309	skin:	n/a
13	chr6:160769116-160769166	MCF10A-Er-Src	breast:	n/a
14	chr6:160771074-160771124	Caco-2	colon:	n/a
15	chr6:160771574-160771624	HRPEpiC	eye:	n/a
16	chr6:160769359-160769409	HRPEpiC	eye:	n/a
17	chr6:160770090-160770140	HepG2	liver:	n/a
18	chr6:160768801-160768851	NHDF-neo	bronchial:	n/a
19	chr6:160768369-160768419	MCF-7	breast:	n/a
20	chr6:160769114-160769164	HIPEpiC	eye:	n/a
21	chr6:160769116-160769166	SK-N-SH	brain:	n/a
22	chr6:160770346-160770396	IMR90	lung:	fetal
23	chr6:160770090-160770140	NHDF-neo	bronchial:	n/a
24	chr6:160768801-160768851	HEK293	kidney:	embryo
25	chr6:160771074-160771124	SKMC	muscle:	n/a
26	chr6:160768801-160768851	SK-N-SH	brain:	n/a
27	chr6:160769116-160769166	NHDF-neo	bronchial:	n/a
28	chr6:160769359-160769409	MCF10A-Er-Src	breast:	n/a
29	chr6:160770346-160770396	LNCaP	prostate:	n/a
30	chr6:160771574-160771624	HMEC	breast:	n/a
31	chr6:160769359-160769409	HL-60	blood:	n/a
32	chr6:160768801-160768851	HEEpiC	esophagus:	n/a
33	chr6:160768369-160768419	PrEC	prostate:	n/a
34	chr6:160770090-160770140	HCT-116	colon:	n/a
35	chr6:160769116-160769166	ProgFib	skin:	n/a
36	chr6:160770090-160770140	HUVEC	blood vessel:	n/a
37	chr6:160770346-160770396	NHBE	bronchial:	n/a
38	chr6:160769359-160769409	SK-N-SH	brain:	n/a
39	chr6:160768801-160768851	HPAEpiC	pulmonary alveolar:	n/a
40	chr6:160769754-160769804	ovcar-3	ovarian:	n/a
41	chr6:160769116-160769166	HMEC	breast:	n/a
42	chr6:160769754-160769804	Hepatocyte	liver:	n/a
43	chr6:160768801-160768851	BE2_C	brain:	n/a
44	chr6:160768369-160768419	U87	brain:	n/a
45	chr6:160768801-160768851	HepG2	liver:	n/a
46	chr6:160771074-160771124	NT2-D1	testis:	n/a
47	chr6:160770090-160770140	PFSK-1	brain:	n/a
48	chr6:160769116-160769166	NB4	blood:	n/a
49	chr6:160771574-160771624	HNPCEpiC	eye:	n/a
50	chr6:160771574-160771624	GM12878	blood:	n/a

Variant related genes	Relation type
SLC22A3	TF binding region
SLC22A3	CpG island

Extended variants
information (count: 152 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs520829	chr6:160767905-160767906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373717815	chr6:160767922-160767923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572339489	chr6:160767927-160767928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189561300	chr6:160767933-160767934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3004078	chr6:160767990-160767991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577963391	chr6:160768052-160768053	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs12193736	chr6:160768070-160768071	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs79855956	chr6:160768099-160768100	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs150964224	chr6:160768124-160768125	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs551534004	chr6:160768138-160768139	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs73782557	chr6:160768176-160768177	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs139862070	chr6:160768178-160768179	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs112556560	chr6:160768202-160768203	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10455781	chr6:160768212-160768213	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs61145131	chr6:160768289-160768290	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs527507897	chr6:160768417-160768418	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs73782558	chr6:160768422-160768423	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564263310	chr6:160768444-160768445	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs532895003	chr6:160768448-160768449	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs368901663	chr6:160768520-160768521	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs555695937	chr6:160768557-160768558	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs149007453	chr6:160768603-160768604	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs376705288	chr6:160768635-160768636	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs569062829	chr6:160768669-160768670	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs528940194	chr6:160768673-160768674	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs548697862	chr6:160768710-160768711	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs565931681	chr6:160768761-160768762	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs534948831	chr6:160768767-160768768	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs374863470	chr6:160768821-160768822	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs9457908	chr6:160768824-160768825	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs557136302	chr6:160768850-160768851	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs567011295	chr6:160768858-160768859	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs551032	chr6:160768860-160768861	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs571850112	chr6:160768891-160768892	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs537423748	chr6:160768894-160768895	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs186237068	chr6:160768935-160768936	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs569357784	chr6:160768942-160768943	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs574113643	chr6:160768956-160768957	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs577451346	chr6:160768986-160768987	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs543118983	chr6:160769003-160769004	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs553548935	chr6:160769029-160769030	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs374485143	chr6:160769093-160769094	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs34852024	chr6:160769129-160769130	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs572258239	chr6:160769157-160769158	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs540872722	chr6:160769234-160769235	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs564379628	chr6:160769258-160769259	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs58601841	chr6:160769279-160769280	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs59711975	chr6:160769301-160769302	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs375697263	chr6:160769323-160769324	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs562925352	chr6:160769341-160769342	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160758800-160768800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:160759000-160768600	Weak transcription	Gastric	stomach
3	chr6:160759200-160768200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:160759200-160768400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:160765800-160769000	Weak transcription	HMEC	breast
6	chr6:160768000-160768400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:160768200-160768400	Enhancers	Hela-S3	cervix
8	chr6:160768200-160768400	Bivalent Enhancer	HepG2	liver
9	chr6:160768200-160769000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:160768200-160770200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr6:160768400-160768600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr6:160768400-160768600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr6:160768400-160768600	Enhancers	A549	lung
14	chr6:160768400-160768600	Flanking Bivalent TSS/Enh	HepG2	liver
15	chr6:160768400-160768800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
16	chr6:160768400-160768800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:160768400-160768800	Flanking Active TSS	Hela-S3	cervix
18	chr6:160768400-160769000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:160768400-160770000	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr6:160768400-160770600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr6:160768600-160768800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
22	chr6:160768600-160768800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:160768600-160768800	Enhancers	Esophagus	oesophagus
24	chr6:160768600-160768800	Bivalent Enhancer	Placenta	Placenta
25	chr6:160768600-160768800	Enhancers	Gastric	stomach
26	chr6:160768600-160768800	Bivalent Enhancer	Small Intestine	intestine
27	chr6:160768600-160768800	Bivalent Enhancer	Stomach Mucosa	stomach
28	chr6:160768600-160768800	Flanking Active TSS	A549	lung
29	chr6:160768600-160769000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:160768600-160769200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
31	chr6:160768600-160769200	Enhancers	Pancreas	Pancrea
32	chr6:160768600-160769600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:160768600-160769800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:160768600-160770000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr6:160768600-160770600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
36	chr6:160768600-160770800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr6:160768600-160771000	Bivalent/Poised TSS	HepG2	liver
38	chr6:160768600-160771400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr6:160768600-160771600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr6:160768800-160769000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:160768800-160769000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:160768800-160769000	Flanking Active TSS	Esophagus	oesophagus
43	chr6:160768800-160769000	Enhancers	Ovary	ovary
44	chr6:160768800-160769000	Enhancers	Placenta Amnion	Placenta Amnion
45	chr6:160768800-160769200	Weak transcription	Gastric	stomach
46	chr6:160768800-160769200	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr6:160768800-160769400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
48	chr6:160768800-160769600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:160768800-160769600	Active TSS	Stomach Smooth Muscle	stomach
50	chr6:160768800-160769800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links