Variant report

Variant	nsv1018357
Chromosome Location	chr6:113748468-113781070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:394)
CpG islands
(count:122)
Chromatin interactive
region (count:15)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:113754672-113754879	HepG2	liver:	n/a	n/a
2	ATF1	chr6:113768318-113768514	K562	blood:	n/a	n/a
3	ATF3	chr6:113754522-113754958	A549	lung:	n/a	n/a
4	BACH1	chr6:113750054-113750124	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr6:113753888-113755123	A549	lung:	n/a	n/a
6	BCL3	chr6:113754122-113754485	GM12878	blood:	n/a	n/a
7	BCL3	chr6:113761249-113761562	GM12878	blood:	n/a	n/a
8	BCL3	chr6:113754514-113755014	A549	lung:	n/a	n/a
9	BHLHE40	chr6:113768323-113768567	HepG2	liver:	n/a	n/a
10	BHLHE40	chr6:113768305-113768578	K562	blood:	n/a	n/a
11	BRCA1	chr6:113753980-113755089	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr6:113753887-113755234	Hela-S3	cervix:	n/a	chr6:113754871-113754882 chr6:113754869-113754882
13	CEBPB	chr6:113754718-113755037	HepG2	liver:	n/a	chr6:113754871-113754882 chr6:113754869-113754882
14	CEBPB	chr6:113753928-113755259	IMR90	lung:	n/a	chr6:113754871-113754882 chr6:113754869-113754882
15	CEBPB	chr6:113754717-113754908	HepG2	liver:	n/a	chr6:113754871-113754882 chr6:113754869-113754882
16	CEBPB	chr6:113753916-113755067	A549	lung:	n/a	chr6:113754871-113754882 chr6:113754869-113754882
17	CEBPB	chr6:113768278-113768620	HepG2	liver:	n/a	n/a
18	CEBPB	chr6:113768230-113768652	ECC-1	luminal epithelium:	n/a	n/a
19	CEBPB	chr6:113768254-113768681	IMR90	lung:	n/a	n/a
20	CEBPB	chr6:113768171-113768679	HCT-116	colon:	n/a	n/a
21	CEBPB	chr6:113770070-113770534	IMR90	lung:	n/a	n/a
22	CEBPB	chr6:113753852-113755255	A549	lung:	n/a	chr6:113754871-113754882 chr6:113754869-113754882
23	CEBPB	chr6:113768353-113768690	A549	lung:	n/a	n/a
24	CEBPB	chr6:113753888-113754477	MCF-7	breast:	n/a	n/a
25	CEBPB	chr6:113753879-113754426	A549	lung:	n/a	n/a
26	CEBPB	chr6:113768282-113768630	A549	lung:	n/a	n/a
27	CEBPB	chr6:113768082-113768823	HCT-116	colon:	n/a	n/a
28	CEBPB	chr6:113754657-113755006	HepG2	liver:	n/a	chr6:113754871-113754882 chr6:113754869-113754882
29	CEBPB	chr6:113768265-113768689	MCF-7	breast:	n/a	n/a
30	CEBPB	chr6:113754634-113755024	HepG2	liver:	n/a	chr6:113754871-113754882 chr6:113754869-113754882
31	CEBPB	chr6:113754780-113754993	H1-hESC	embryonic stem cell:	n/a	chr6:113754871-113754882 chr6:113754869-113754882
32	CEBPB	chr6:113778382-113778940	IMR90	lung:	n/a	n/a
33	CEBPB	chr6:113754484-113755313	MCF-7	breast:	n/a	chr6:113754871-113754882 chr6:113754869-113754882
34	CEBPB	chr6:113754482-113755075	A549	lung:	n/a	chr6:113754871-113754882 chr6:113754869-113754882
35	CEBPB	chr6:113771207-113771457	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr6:113754665-113755068	ECC-1	luminal epithelium:	n/a	chr6:113754871-113754882 chr6:113754869-113754882
37	CEBPB	chr6:113770078-113770639	HCT-116	colon:	n/a	n/a
38	CEBPB	chr6:113753789-113755513	MCF-7	breast:	n/a	chr6:113754871-113754882 chr6:113754869-113754882
39	CEBPB	chr6:113768256-113768665	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr6:113754654-113755021	ECC-1	luminal epithelium:	n/a	chr6:113754871-113754882 chr6:113754869-113754882
41	CEBPB	chr6:113768306-113768506	K562	blood:	n/a	n/a
42	CEBPB	chr6:113768273-113768695	MCF-7	breast:	n/a	n/a
43	CEBPB	chr6:113765415-113765592	A549	lung:	n/a	n/a
44	CEBPB	chr6:113768204-113768702	A549	lung:	n/a	n/a
45	CEBPB	chr6:113768192-113768722	ECC-1	luminal epithelium:	n/a	n/a
46	CHD2	chr6:113754031-113755097	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr6:113758740-113758890	GM12873	blood:	n/a	n/a
48	CTCF	chr6:113759200-113759350	GM12865	blood:	n/a	n/a
49	CTCF	chr6:113754837-113754863	Kidney_OC	kidney:	n/a	n/a
50	CTCF	chr6:113748700-113748780	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:113779374-113779424	AG10803	skin:	n/a
2	chr6:113755716-113755766	MCF-7	breast:	n/a
3	chr6:113779374-113779424	U87	brain:	n/a
4	chr6:113779374-113779424	HEK293	kidney:	embryo
5	chr6:113779374-113779424	HCM	heart:	n/a
6	chr6:113755716-113755766	GM06990	blood:	n/a
7	chr6:113779374-113779424	AG09309	skin:	n/a
8	chr6:113779374-113779424	HIPEpiC	eye:	n/a
9	chr6:113779374-113779424	HRPEpiC	eye:	n/a
10	chr6:113755716-113755766	LNCaP	prostate:	n/a
11	chr6:113779374-113779424	GM12892	blood:	n/a
12	chr6:113779374-113779424	NB4	blood:	n/a
13	chr6:113755716-113755766	PrEC	prostate:	n/a
14	chr6:113779374-113779424	H1-hESC	embryonic stem cell:	embryo
15	chr6:113755716-113755766	HCPEpiC	choroid plexus:	n/a
16	chr6:113755716-113755766	RPTEC	kidney:	n/a
17	chr6:113755716-113755766	HNPCEpiC	eye:	n/a
18	chr6:113755716-113755766	HEK293	kidney:	embryo
19	chr6:113755716-113755766	ProgFib	skin:	n/a
20	chr6:113779374-113779424	RPTEC	kidney:	n/a
21	chr6:113779374-113779424	GM12891	blood:	n/a
22	chr6:113755716-113755766	SK-N-SH_RA	brain:	n/a
23	chr6:113779374-113779424	Hepatocyte	liver:	n/a
24	chr6:113779374-113779424	SK-N-MC	brain:	n/a
25	chr6:113779374-113779424	SK-N-SH	brain:	n/a
26	chr6:113779374-113779424	HAEpiC	amniotic membrane:	n/a
27	chr6:113779374-113779424	NHBE	bronchial:	n/a
28	chr6:113779374-113779424	HCT-116	colon:	n/a
29	chr6:113755716-113755766	NHDF-neo	bronchial:	n/a
30	chr6:113755716-113755766	HCM	heart:	n/a
31	chr6:113779374-113779424	Jurkat	blood:	n/a
32	chr6:113779374-113779424	GM19239	blood:	n/a
33	chr6:113755716-113755766	HL-60	blood:	n/a
34	chr6:113755716-113755766	Hela-S3	cervix:	n/a
35	chr6:113779374-113779424	HRE	kidney:	n/a
36	chr6:113779374-113779424	HRCEpiC	kidney:	n/a
37	chr6:113755716-113755766	SK-N-SH	brain:	n/a
38	chr6:113779374-113779424	ovcar-3	ovarian:	n/a
39	chr6:113755716-113755766	AG09319	gingival:	n/a
40	chr6:113755716-113755766	AG04449	skin:	fetal
41	chr6:113779374-113779424	T-47D	breast:	n/a
42	chr6:113779374-113779424	HMEC	breast:	n/a
43	chr6:113779374-113779424	Hela-S3	cervix:	n/a
44	chr6:113755716-113755766	Jurkat	blood:	n/a
45	chr6:113779374-113779424	GM12878	blood:	n/a
46	chr6:113779374-113779424	CMK	blood:	n/a
47	chr6:113779374-113779424	AG04449	skin:	fetal
48	chr6:113755716-113755766	GM12892	blood:	n/a
49	chr6:113779374-113779424	NH-A	brain:	n/a
50	chr6:113755716-113755766	MCF10A-Er-Src	breast:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:113755353..113757884-chr6:113758152..113760628,2	MCF-7	breast:
2	chr6:113755353..113757884-chr6:113758152..113760628,2	MCF-7	breast:
3	chr6:113753938..113755617-chr6:113771103..113773814,2	MCF-7	breast:
4	chr6:113754604..113756824-chr6:113757687..113759351,2	MCF-7	breast:
5	chr6:113753759..113754729-chr6:113767071..113767994,2	MCF-7	breast:
6	chr6:113748860..113752704-chr6:114177965..114181213,3	MCF-7	breast:
7	chr6:113750617..113753339-chr6:113755230..113758094,2	MCF-7	breast:
8	chr6:113752685..113754255-chr6:113760032..113762327,2	MCF-7	breast:
9	chr6:113753088..113757268-chr6:113951584..113954499,3	MCF-7	breast:
10	chr6:113753712..113755714-chr6:114178275..114180113,2	MCF-7	breast:
11	chr6:113763198..113764987-chr6:114177471..114180396,2	MCF-7	breast:
12	chr6:113750617..113753339-chr6:113755230..113758094,2	MCF-7	breast:
13	chr6:113753134..113757391-chr6:113759557..113761652,4	MCF-7	breast:
14	chr6:113748365..113749941-chr6:113754582..113756807,2	MCF-7	breast:
15	chr6:113753858..113756059-chr6:113770303..113773626,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HDAC2-3	chr6:113749753-113750180	XLOC_005809
2	lnc-HDAC2-3	chr6:113753761-113753843	XLOC_005809
3	lnc-HDAC2-3	chr6:113749742-113750180	XLOC_005809
4	lnc-HDAC2-3	chr6:113754539-113754623	XLOC_005809

No data

Variant related genes	Relation type
ENSG00000232316	TF binding region
ENSG00000232316	CpG island
ENSG00000232316	chromatin interactions
ENSG00000230943	chromatin interactions
ENSG00000155130	chromatin interactions
CCDC86	miRNA target sites
TMEFF2	miRNA target sites

Extended variants
information (count: 1298 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:1298 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530509777	chr6:113748474-113748475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373392321	chr6:113748482-113748483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs552293185	chr6:113748530-113748531	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs57996396	chr6:113748536-113748537	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs367991988	chr6:113748544-113748545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535181416	chr6:113748548-113748549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148345023	chr6:113748559-113748560	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566009058	chr6:113748592-113748593	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568741736	chr6:113748628-113748629	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536173361	chr6:113748653-113748654	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557063306	chr6:113748655-113748656	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs369917234	chr6:113748672-113748673	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536539110	chr6:113748684-113748685	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545976191	chr6:113748697-113748698	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs79621195	chr6:113748769-113748770	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs73768440	chr6:113748808-113748809	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554862400	chr6:113748813-113748814	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576508004	chr6:113748826-113748827	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs537412985	chr6:113748842-113748843	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs573009142	chr6:113748843-113748844	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150908956	chr6:113748908-113748909	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs6568790	chr6:113748949-113748950	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs139743636	chr6:113748962-113748963	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs141535104	chr6:113748982-113748983	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs146171089	chr6:113748985-113748986	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs4945496	chr6:113749009-113749010	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs570522469	chr6:113749035-113749036	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs62424191	chr6:113749072-113749073	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs139245035	chr6:113749075-113749076	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs144040939	chr6:113749104-113749105	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs6937630	chr6:113749106-113749107	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs574652212	chr6:113749146-113749147	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs114956443	chr6:113749168-113749169	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs73768443	chr6:113749209-113749210	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs542123012	chr6:113749211-113749212	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs539777341	chr6:113749214-113749215	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs114180135	chr6:113749216-113749217	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs572971568	chr6:113749218-113749219	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs555792114	chr6:113749219-113749220	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs9481351	chr6:113749253-113749254	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs142149885	chr6:113749272-113749273	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs574618573	chr6:113749274-113749275	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs2049925	chr6:113749304-113749305	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs563553075	chr6:113749369-113749370	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs575458658	chr6:113749411-113749412	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs545783186	chr6:113749462-113749463	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs564097129	chr6:113749468-113749469	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs528176936	chr6:113749469-113749470	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs546758110	chr6:113749472-113749473	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs543037258	chr6:113749475-113749476	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Acute lymphoblastic leukemia	17443227	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
Leukemia	18688285	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
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	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
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:113748400-113750400	Weak transcription	Placenta	Placenta
2	chr6:113748600-113749400	Enhancers	Fetal Intestine Small	intestine
3	chr6:113748800-113749200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:113748800-113749400	Enhancers	HepG2	liver
5	chr6:113748800-113750200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:113749000-113749600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr6:113749200-113753600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:113749400-113754200	Weak transcription	Fetal Intestine Small	intestine
9	chr6:113749400-113754200	Weak transcription	HepG2	liver
10	chr6:113749600-113750000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:113749600-113750200	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:113750000-113750200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr6:113750200-113753800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:113750200-113754000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:113750200-113754200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:113752000-113753800	Weak transcription	Placenta	Placenta
17	chr6:113753000-113755800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr6:113753200-113754200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:113753200-113754800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr6:113753400-113753600	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr6:113753400-113755800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:113753600-113753800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:113753600-113754400	Enhancers	Hela-S3	cervix
24	chr6:113753600-113755400	Enhancers	Liver	Liver
25	chr6:113753600-113755400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr6:113753600-113755600	Enhancers	Primary B cells from cord blood	blood
27	chr6:113753600-113755600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:113753600-113755800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:113753600-113755800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:113753600-113755800	Enhancers	NHDF-Ad	bronchial
31	chr6:113753600-113755800	Enhancers	NHLF	lung
32	chr6:113753600-113756200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:113753600-113756600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:113753600-113756800	Enhancers	Osteobl	bone
35	chr6:113753800-113754600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:113753800-113755200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:113753800-113755400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr6:113753800-113756000	Enhancers	Placenta	Placenta
39	chr6:113753800-113756200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:113753800-113756600	Enhancers	Fetal Lung	lung
41	chr6:113754000-113754400	Active TSS	Primary hematopoietic stem cells	blood
42	chr6:113754000-113754400	Enhancers	A549	lung
43	chr6:113754000-113755200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr6:113754000-113755800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr6:113754200-113755000	Enhancers	HepG2	liver
46	chr6:113754200-113755200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:113754200-113755200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:113754200-113755200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr6:113754200-113755200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr6:113754200-113755200	Enhancers	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links