Variant report

Variant	esv3491404
Chromosome Location	chr6:33386574-33390272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:317)
CpG islands
(count:976)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr6:33386774-33387117	K562	blood:	n/a	n/a
2	ATF2	chr6:33386639-33387227	GM12878	blood:	n/a	chr6:33386980-33386991
3	ATF2	chr6:33386706-33387155	GM12878	blood:	n/a	chr6:33386980-33386991
4	ATF3	chr6:33385716-33386583	H1-hESC	embryonic stem cell:	n/a	chr6:33386120-33386140 chr6:33386109-33386129 chr6:33386120-33386129
5	ATF3	chr6:33385571-33386610	HepG2	liver:	n/a	chr6:33386120-33386140 chr6:33386109-33386129 chr6:33386120-33386129
6	BACH1	chr6:33385712-33386608	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr6:33385750-33386761	K562	blood:	n/a	n/a
8	BCL11A	chr6:33386772-33387143	GM12878	blood:	n/a	chr6:33386968-33386977
9	BCLAF1	chr6:33388691-33389320	K562	blood:	n/a	n/a
10	BCLAF1	chr6:33388732-33389176	K562	blood:	n/a	n/a
11	BCLAF1	chr6:33388894-33389180	GM12878	blood:	n/a	n/a
12	BHLHE40	chr6:33385465-33387077	K562	blood:	n/a	chr6:33386119-33386128 chr6:33386118-33386131 chr6:33386120-33386129 chr6:33386120-33386129
13	BHLHE40	chr6:33385563-33386875	HepG2	liver:	n/a	chr6:33386119-33386128 chr6:33386118-33386131 chr6:33386120-33386129 chr6:33386120-33386129
14	BHLHE40	chr6:33385482-33387118	GM12878	blood:	n/a	chr6:33386119-33386128 chr6:33386118-33386131 chr6:33386120-33386129 chr6:33386120-33386129
15	BRCA1	chr6:33386663-33386843	GM12878	blood:	n/a	n/a
16	CBX3	chr6:33385609-33386680	K562	blood:	n/a	n/a
17	CBX3	chr6:33388654-33389271	K562	blood:	n/a	n/a
18	CBX3	chr6:33384568-33387065	K562	blood:	n/a	n/a
19	CBX3	chr6:33388814-33389216	K562	blood:	n/a	n/a
20	CEBPB	chr6:33386673-33387251	GM12878	blood:	n/a	n/a
21	CEBPB	chr6:33386880-33387034	K562	blood:	n/a	n/a
22	CEBPD	chr6:33385527-33386581	K562	blood:	n/a	n/a
23	CEBPD	chr6:33388740-33389287	K562	blood:	n/a	n/a
24	CHD1	chr6:33385318-33386843	GM12878	blood:	n/a	n/a
25	CHD2	chr6:33385567-33387012	GM12878	blood:	n/a	n/a
26	CHD2	chr6:33387703-33387900	GM12878	blood:	n/a	n/a
27	CHD2	chr6:33387678-33387848	K562	blood:	n/a	n/a
28	CREB1	chr6:33384958-33387039	HepG2	liver:	n/a	chr6:33386979-33386992
29	CREB1	chr6:33386599-33387075	H1-hESC	embryonic stem cell:	n/a	chr6:33386979-33386992
30	CREB1	chr6:33385535-33386613	K562	blood:	n/a	n/a
31	CREB1	chr6:33385465-33386588	GM12878	blood:	n/a	n/a
32	CREB1	chr6:33386673-33387217	GM12878	blood:	n/a	chr6:33386979-33386992
33	CTCF	chr6:33385679-33386592	GM12878	blood:	n/a	n/a
34	CTCF	chr6:33385783-33386598	K562	blood:	n/a	n/a
35	CTCF	chr6:33385814-33386602	K562	blood:	n/a	n/a
36	CTCF	chr6:33386667-33386706	GM12891	blood:	n/a	n/a
37	CTCF	chr6:33386640-33386790	GM12867	blood:	n/a	n/a
38	CTCF	chr6:33386182-33386602	H1-hESC	embryonic stem cell:	n/a	n/a
39	CUX1	chr6:33387544-33387551	K562	blood:	n/a	n/a
40	CUX1	chr6:33385819-33387101	K562	blood:	n/a	n/a
41	EGR1	chr6:33387717-33387987	K562	blood:	n/a	chr6:33387766-33387779 chr6:33387769-33387779
42	EGR1	chr6:33387785-33388075	K562	blood:	n/a	n/a
43	ELF1	chr6:33385446-33386619	MCF-7	breast:	n/a	n/a
44	ELF1	chr6:33385371-33386668	MCF-7	breast:	n/a	n/a
45	ELF1	chr6:33386644-33387140	K562	blood:	n/a	n/a
46	ELK1	chr6:33385526-33386612	GM12878	blood:	n/a	n/a
47	ELK1	chr6:33386953-33387016	K562	blood:	n/a	n/a
48	ELK1	chr6:33386863-33387058	GM12878	blood:	n/a	n/a
49	EP300	chr6:33388841-33389179	K562	blood:	n/a	n/a
50	EP300	chr6:33385525-33387132	K562	blood:	n/a	chr6:33386145-33386154

(count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33386967-33387017	T-47D	breast:	n/a
2	chr6:33389132-33389182	HCPEpiC	choroid plexus:	n/a
3	chr6:33386985-33387035	ovcar-3	ovarian:	n/a
4	chr6:33390069-33390119	HMEC	breast:	n/a
5	chr6:33386985-33387035	NB4	blood:	n/a
6	chr6:33387205-33387255	U87	brain:	n/a
7	chr6:33386556-33386606	CMK	blood:	n/a
8	chr6:33386985-33387035	U87	brain:	n/a
9	chr6:33390148-33390198	Caco-2	colon:	n/a
10	chr6:33389846-33389896	ProgFib	skin:	n/a
11	chr6:33386967-33387017	H1-hESC	embryonic stem cell:	embryo
12	chr6:33389132-33389182	Caco-2	colon:	n/a
13	chr6:33389846-33389896	BE2_C	brain:	n/a
14	chr6:33389132-33389182	HepG2	liver:	n/a
15	chr6:33388083-33388133	HMEC	breast:	n/a
16	chr6:33387003-33387053	AG10803	skin:	n/a
17	chr6:33386985-33387035	T-47D	breast:	n/a
18	chr6:33389172-33389222	A549	lung:	n/a
19	chr6:33386985-33387035	CMK	blood:	n/a
20	chr6:33389846-33389896	HCF	heart:	n/a
21	chr6:33387188-33387238	GM12892	blood:	n/a
22	chr6:33386985-33387035	GM19239	blood:	n/a
23	chr6:33389132-33389182	HNPCEpiC	eye:	n/a
24	chr6:33386967-33387017	GM12892	blood:	n/a
25	chr6:33389132-33389182	K562	blood:	n/a
26	chr6:33389072-33389122	PFSK-1	brain:	n/a
27	chr6:33389172-33389222	K562	blood:	n/a
28	chr6:33389132-33389182	ovcar-3	ovarian:	n/a
29	chr6:33387089-33387139	HNPCEpiC	eye:	n/a
30	chr6:33387188-33387238	HEEpiC	esophagus:	n/a
31	chr6:33386985-33387035	MCF-7	breast:	n/a
32	chr6:33387003-33387053	SK-N-SH	brain:	n/a
33	chr6:33389072-33389122	HPAEpiC	pulmonary alveolar:	n/a
34	chr6:33386556-33386606	MCF10A-Er-Src	breast:	n/a
35	chr6:33390148-33390198	PANC-1	pancreas:	n/a
36	chr6:33386967-33387017	SK-N-SH_RA	brain:	n/a
37	chr6:33387205-33387255	NH-A	brain:	n/a
38	chr6:33390148-33390198	HUVEC	blood vessel:	n/a
39	chr6:33389846-33389896	HCPEpiC	choroid plexus:	n/a
40	chr6:33389107-33389157	K562	blood:	n/a
41	chr6:33387205-33387255	Hepatocyte	liver:	n/a
42	chr6:33386985-33387035	SK-N-SH_RA	brain:	n/a
43	chr6:33387188-33387238	MCF10A-Er-Src	breast:	n/a
44	chr6:33386985-33387035	LNCaP	prostate:	n/a
45	chr6:33390148-33390198	AG04449	skin:	fetal
46	chr6:33390148-33390198	A549	lung:	n/a
47	chr6:33388083-33388133	BE2_C	brain:	n/a
48	chr6:33386985-33387035	GM12891	blood:	n/a
49	chr6:33386985-33387035	Hela-S3	cervix:	n/a
50	chr6:33389072-33389122	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:33358245..33360999-chr6:33390067..33393313,4	MCF-7	breast:
2	chr6:33356382..33361019-chr6:33384058..33388661,8	K562	blood:
3	chr6:33357638..33360083-chr6:33386720..33388943,3	MCF-7	breast:
4	chr6:33264410..33268847-chr6:33383674..33387403,5	MCF-7	breast:
5	chr6:33385453..33389637-chr6:33419628..33424957,5	MCF-7	breast:
6	chr6:33242365..33247657-chr6:33386109..33388284,6	K562	blood:
7	chr6:33242542..33249529-chr6:33381747..33388277,18	K562	blood:
8	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
9	chr6:33371627..33375942-chr6:33381284..33387543,6	K562	blood:
10	chr6:33279097..33283546-chr6:33386045..33390564,5	MCF-7	breast:
11	chr6:33168527..33171468-chr6:33384494..33387586,3	K562	blood:
12	chr6:33285422..33287849-chr6:33385883..33388858,2	MCF-7	breast:
13	chr6:33237802..33241730-chr6:33382199..33389112,10	K562	blood:
14	chr6:33264858..33266557-chr6:33385922..33387524,2	K562	blood:
15	chr6:33264378..33268881-chr6:33383627..33388443,14	K562	blood:
16	chr6:33237639..33241732-chr6:33383253..33390116,11	K562	blood:
17	chr6:33357335..33362175-chr6:33383352..33389421,14	K562	blood:
18	chr6:33358171..33361215-chr6:33389565..33394982,4	MCF-7	breast:
19	chr6:33358575..33362850-chr6:33383674..33386989,4	MCF-7	breast:
20	chr6:33389729..33391782-chr6:33598906..33600779,2	K562	blood:
21	chr6:33280795..33292485-chr6:33374786..33387605,31	K562	blood:
22	chr6:33372672..33375320-chr6:33388854..33391700,2	MCF-7	breast:
23	chr6:33365854..33369434-chr6:33385468..33388336,3	K562	blood:
24	chr6:32938527..32941573-chr6:33384163..33387216,4	K562	blood:
25	chr6:33384548..33387250-chr6:33422114..33424496,2	K562	blood:
26	chr6:33254516..33257651-chr6:33384634..33387572,3	K562	blood:
27	chr6:33242929..33245218-chr6:33388533..33390277,2	K562	blood:
28	chr6:33169269..33171468-chr6:33384494..33387192,2	K562	blood:

No data

Variant related genes	Relation type
SYNGAP1	TF binding region
CUTA	TF binding region
SYNGAP1	CpG island
CUTA	CpG island
ENSG00000231925	chromatin interactions
ENSG00000237441	chromatin interactions
ENSG00000204194	chromatin interactions
ENSG00000225644	chromatin interactions
ENSG00000204209	chromatin interactions
ENSG00000213588	chromatin interactions
ENSG00000204231	chromatin interactions
ENSG00000112473	chromatin interactions
ENSG00000235863	chromatin interactions
ENSG00000223501	chromatin interactions
ENSG00000231500	chromatin interactions
ENSG00000204220	chromatin interactions
ENSG00000227057	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000263756	chromatin interactions
ENSG00000237649	chromatin interactions
ENSG00000236104	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559759378	chr6:33386586-33386587	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
2	rs573746098	chr6:33386658-33386659	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
3	rs77965538	chr6:33386728-33386729	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
4	rs367634744	chr6:33386797-33386798	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
5	rs562269822	chr6:33386866-33386867	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
6	rs561377548	chr6:33386955-33386956	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
7	rs182567568	chr6:33386970-33386971	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
8	rs560047841	chr6:33386985-33386986	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
9	rs527987063	chr6:33386991-33386992	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
10	rs548524823	chr6:33387014-33387015	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
11	rs549621643	chr6:33387025-33387026	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
12	rs567787952	chr6:33387032-33387033	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
13	rs538462251	chr6:33387042-33387043	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
14	rs187992013	chr6:33387163-33387164	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
15	rs191666341	chr6:33387194-33387195	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
16	rs371603821	chr6:33387223-33387224	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs537188207	chr6:33387228-33387229	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs183589970	chr6:33387246-33387247	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs74848808	chr6:33387254-33387255	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
20	rs35447351	chr6:33387345-33387346	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
21	rs531589480	chr6:33387380-33387381	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs554209486	chr6:33387411-33387412	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs552212511	chr6:33387431-33387432	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs572364020	chr6:33387466-33387467	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs533859395	chr6:33387477-33387478	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
26	rs555605854	chr6:33387493-33387494	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs573830158	chr6:33387573-33387574	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
28	rs9688415	chr6:33387599-33387600	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs115074978	chr6:33387613-33387614	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs577322090	chr6:33387622-33387623	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs544663820	chr6:33387644-33387645	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs150486410	chr6:33387730-33387731	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs559911304	chr6:33387739-33387740	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs527254055	chr6:33387769-33387770	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs139995053	chr6:33387790-33387791	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs548682404	chr6:33387843-33387844	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs189031463	chr6:33387958-33387959	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs399463	chr6:33387969-33387970	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs192610445	chr6:33387971-33387972	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs35165086	chr6:33387974-33387975	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs561663315	chr6:33387988-33387989	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs432615	chr6:33388014-33388015	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs532031526	chr6:33388031-33388032	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs550440664	chr6:33388265-33388266	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs78525454	chr6:33388294-33388295	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs183571370	chr6:33388450-33388451	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs186568722	chr6:33388544-33388545	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs13197505	chr6:33388579-33388580	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs565960609	chr6:33388580-33388581	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs536677843	chr6:33388612-33388613	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20964600	CNVD

Chromatin state (count:608 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33384000-33386600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:33384400-33386600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:33384600-33386800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr6:33384800-33386600	Active TSS	Ovary	ovary
5	chr6:33384800-33386600	Active TSS	Psoas Muscle	Psoas
6	chr6:33384800-33386800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr6:33385000-33386600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:33385000-33386600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:33385000-33387000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr6:33385400-33386600	Active TSS	Brain Angular Gyrus	brain
11	chr6:33386000-33387800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:33386000-33392600	Weak transcription	Gastric	stomach
13	chr6:33386200-33386600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:33386200-33386600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:33386200-33386600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr6:33386200-33386600	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr6:33386200-33386600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr6:33386200-33386600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:33386200-33386600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr6:33386200-33386600	Flanking Active TSS	Liver	Liver
21	chr6:33386200-33386600	Flanking Active TSS	Fetal Intestine Large	intestine
22	chr6:33386200-33386600	Flanking Active TSS	Fetal Intestine Small	intestine
23	chr6:33386200-33386600	Flanking Active TSS	Fetal Lung	lung
24	chr6:33386200-33386600	Flanking Active TSS	Fetal Muscle Trunk	muscle
25	chr6:33386200-33386600	Flanking Active TSS	Placenta	Placenta
26	chr6:33386200-33386600	Flanking Active TSS	Fetal Thymus	thymus
27	chr6:33386200-33386600	Flanking Active TSS	Pancreas	Pancrea
28	chr6:33386200-33386600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
29	chr6:33386200-33386600	Flanking Active TSS	Stomach Mucosa	stomach
30	chr6:33386200-33386600	Flanking Active TSS	HMEC	breast
31	chr6:33386200-33386600	Flanking Active TSS	HSMM	muscle
32	chr6:33386200-33386600	Flanking Active TSS	HUVEC	blood vessel
33	chr6:33386200-33386600	Flanking Active TSS	NH-A	brain
34	chr6:33386200-33386800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
35	chr6:33386200-33386800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:33386200-33386800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:33386200-33386800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:33386200-33386800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr6:33386200-33386800	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr6:33386200-33386800	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr6:33386200-33386800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr6:33386200-33386800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:33386200-33386800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr6:33386200-33386800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:33386200-33386800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr6:33386200-33386800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:33386200-33386800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr6:33386200-33386800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:33386200-33386800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr6:33386200-33386800	Flanking Active TSS	Colonic Mucosa	Colon

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