Variant report

Variant	esv3404776
Chromosome Location	chr6:33387074-33389997
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:143)
CpG islands
(count:610)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:143 , 50 per page) page: 1 2 3

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	BCL11A	chr6:33386772-33387143	GM12878	blood:	n/a	chr6:33386968-33386977
5	BCLAF1	chr6:33388691-33389320	K562	blood:	n/a	n/a
6	BCLAF1	chr6:33388732-33389176	K562	blood:	n/a	n/a
7	BCLAF1	chr6:33388894-33389180	GM12878	blood:	n/a	n/a
8	BHLHE40	chr6:33385465-33387077	K562	blood:	n/a	chr6:33386119-33386128 chr6:33386118-33386131 chr6:33386120-33386129 chr6:33386120-33386129
9	BHLHE40	chr6:33385482-33387118	GM12878	blood:	n/a	chr6:33386119-33386128 chr6:33386118-33386131 chr6:33386120-33386129 chr6:33386120-33386129
10	CBX3	chr6:33388814-33389216	K562	blood:	n/a	n/a
11	CBX3	chr6:33388654-33389271	K562	blood:	n/a	n/a
12	CEBPB	chr6:33386673-33387251	GM12878	blood:	n/a	n/a
13	CEBPD	chr6:33388740-33389287	K562	blood:	n/a	n/a
14	CHD2	chr6:33387678-33387848	K562	blood:	n/a	n/a
15	CHD2	chr6:33387703-33387900	GM12878	blood:	n/a	n/a
16	CREB1	chr6:33386673-33387217	GM12878	blood:	n/a	chr6:33386979-33386992
17	CREB1	chr6:33386599-33387075	H1-hESC	embryonic stem cell:	n/a	chr6:33386979-33386992
18	CUX1	chr6:33387544-33387551	K562	blood:	n/a	n/a
19	CUX1	chr6:33385819-33387101	K562	blood:	n/a	n/a
20	EGR1	chr6:33387785-33388075	K562	blood:	n/a	n/a
21	EGR1	chr6:33387717-33387987	K562	blood:	n/a	chr6:33387766-33387779 chr6:33387769-33387779
22	ELF1	chr6:33386644-33387140	K562	blood:	n/a	n/a
23	EP300	chr6:33388841-33389179	K562	blood:	n/a	n/a
24	EP300	chr6:33387677-33387748	GM12878	blood:	n/a	n/a
25	EP300	chr6:33385525-33387132	K562	blood:	n/a	chr6:33386145-33386154
26	FOXM1	chr6:33386698-33387109	GM12878	blood:	n/a	n/a
27	GABPA	chr6:33388880-33389232	MCF-7	breast:	n/a	n/a
28	GABPA	chr6:33388810-33389195	A549	lung:	n/a	n/a
29	GABPA	chr6:33388900-33389027	GM12878	blood:	n/a	n/a
30	GABPA	chr6:33388886-33389116	H1-hESC	embryonic stem cell:	n/a	n/a
31	GABPA	chr6:33388829-33389169	Hela-S3	cervix:	n/a	n/a
32	GABPA	chr6:33388792-33389225	A549	lung:	n/a	n/a
33	GABPA	chr6:33388934-33389012	GM12878	blood:	n/a	n/a
34	GABPA	chr6:33388760-33389172	K562	blood:	n/a	n/a
35	GATA1	chr6:33388925-33389451	PBDE	blood:	n/a	chr6:33389050-33389057 chr6:33389043-33389064 chr6:33389050-33389057 chr6:33389046-33389062 chr6:33389050-33389057 chr6:33389075-33389086 chr6:33389049-33389059 chr6:33389046-33389057
36	GATA2	chr6:33387081-33387361	SH-SY5Y	brain:	n/a	n/a
37	GTF2F1	chr6:33387737-33387851	H1-hESC	embryonic stem cell:	n/a	n/a
38	HCFC1	chr6:33388810-33389161	K562	blood:	n/a	n/a
39	HEY1	chr6:33385690-33387124	K562	blood:	n/a	chr6:33386980-33386989 chr6:33386982-33386991
40	HMGN3	chr6:33388762-33388902	K562	blood:	n/a	n/a
41	IRF1	chr6:33388848-33389105	K562	blood:	n/a	n/a
42	IRF1	chr6:33388902-33389116	K562	blood:	n/a	n/a
43	JUN	chr6:33386734-33387151	K562	blood:	n/a	chr6:33386981-33386990 chr6:33386847-33386856
44	JUN	chr6:33384157-33388027	K562	blood:	n/a	chr6:33387272-33387283 chr6:33386177-33386186 chr6:33386981-33386990 chr6:33386847-33386856
45	JUN	chr6:33385663-33387191	K562	blood:	n/a	chr6:33386177-33386186 chr6:33386981-33386990 chr6:33386847-33386856
46	JUND	chr6:33385818-33387195	H1-hESC	embryonic stem cell:	n/a	chr6:33386177-33386186 chr6:33386981-33386990 chr6:33386847-33386856
47	JUND	chr6:33385498-33387369	K562	blood:	n/a	chr6:33387272-33387283 chr6:33386177-33386186 chr6:33386981-33386990 chr6:33386847-33386856
48	JUND	chr6:33388805-33389154	K562	blood:	n/a	n/a
49	JUND	chr6:33386575-33387339	GM12878	blood:	n/a	chr6:33387272-33387283 chr6:33386981-33386990 chr6:33386847-33386856
50	MAFK	chr6:33386944-33387128	K562	blood:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33389172-33389222	NH-A	brain:	n/a
2	chr6:33387188-33387238	HIPEpiC	eye:	n/a
3	chr6:33387089-33387139	GM12891	blood:	n/a
4	chr6:33389107-33389157	AoSMC	blood vessel:	n/a
5	chr6:33389072-33389122	AG04449	skin:	fetal
6	chr6:33389107-33389157	GM12878	blood:	n/a
7	chr6:33387188-33387238	NH-A	brain:	n/a
8	chr6:33387188-33387238	HMEC	breast:	n/a
9	chr6:33387188-33387238	LNCaP	prostate:	n/a
10	chr6:33389846-33389896	SK-N-MC	brain:	n/a
11	chr6:33387089-33387139	HepG2	liver:	n/a
12	chr6:33388083-33388133	HRE	kidney:	n/a
13	chr6:33389107-33389157	Hepatocyte	liver:	n/a
14	chr6:33389107-33389157	AG10803	skin:	n/a
15	chr6:33387205-33387255	HCF	heart:	n/a
16	chr6:33387089-33387139	BJ	skin:	n/a
17	chr6:33389846-33389896	MCF10A-Er-Src	breast:	n/a
18	chr6:33388083-33388133	BJ	skin:	n/a
19	chr6:33389846-33389896	NH-A	brain:	n/a
20	chr6:33389072-33389122	A549	lung:	n/a
21	chr6:33389696-33389746	U87	brain:	n/a
22	chr6:33389696-33389746	HCT-116	colon:	n/a
23	chr6:33389696-33389746	HEK293	kidney:	embryo
24	chr6:33389072-33389122	GM12892	blood:	n/a
25	chr6:33389846-33389896	BE2_C	brain:	n/a
26	chr6:33389132-33389182	HUVEC	blood vessel:	n/a
27	chr6:33388083-33388133	T-47D	breast:	n/a
28	chr6:33389107-33389157	NT2-D1	testis:	n/a
29	chr6:33389132-33389182	HRPEpiC	eye:	n/a
30	chr6:33389072-33389122	Hela-S3	cervix:	n/a
31	chr6:33389107-33389157	HRE	kidney:	n/a
32	chr6:33389107-33389157	HUVEC	blood vessel:	n/a
33	chr6:33387188-33387238	CMK	blood:	n/a
34	chr6:33387188-33387238	AG10803	skin:	n/a
35	chr6:33387188-33387238	HRCEpiC	kidney:	n/a
36	chr6:33389696-33389746	H1-hESC	embryonic stem cell:	embryo
37	chr6:33387089-33387139	HCF	heart:	n/a
38	chr6:33389846-33389896	HEEpiC	esophagus:	n/a
39	chr6:33389107-33389157	AG09319	gingival:	n/a
40	chr6:33387089-33387139	H1-hESC	embryonic stem cell:	embryo
41	chr6:33389172-33389222	Hela-S3	cervix:	n/a
42	chr6:33389072-33389122	HPAEpiC	pulmonary alveolar:	n/a
43	chr6:33389072-33389122	Jurkat	blood:	n/a
44	chr6:33389846-33389896	IMR90	lung:	fetal
45	chr6:33387205-33387255	CMK	blood:	n/a
46	chr6:33389107-33389157	HEK293	kidney:	embryo
47	chr6:33387089-33387139	AoSMC	blood vessel:	n/a
48	chr6:33389846-33389896	GM12891	blood:	n/a
49	chr6:33387188-33387238	NB4	blood:	n/a
50	chr6:33389132-33389182	GM06990	blood:	n/a

(count:26 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 79 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	rs191299593	chr6:33388622-33388623	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs567599083	chr6:33388629-33388630	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs537701525	chr6:33388633-33388634	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs368674381	chr6:33388746-33388747	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs577383962	chr6:33388747-33388748	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs144468571	chr6:33388782-33388783	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs114993678	chr6:33388894-33388895	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs532777220	chr6:33389003-33389004	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs148058576	chr6:33389004-33389005	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs184730101	chr6:33389054-33389055	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs189766435	chr6:33389072-33389073	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs374728645	chr6:33389119-33389120	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs560715754	chr6:33389132-33389133	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 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:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33386000-33387800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:33386000-33392600	Weak transcription	Gastric	stomach
3	chr6:33386200-33387200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr6:33386200-33387800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:33386200-33387800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:33386200-33387800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:33386200-33387800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:33386200-33387800	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr6:33386200-33387800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:33386200-33387800	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr6:33386200-33387800	Flanking Active TSS	K562	blood
12	chr6:33386200-33388000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:33386200-33388000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:33386200-33389400	Flanking Active TSS	Dnd41	blood
15	chr6:33386400-33387200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:33386400-33387200	Flanking Active TSS	Fetal Brain Female	brain
17	chr6:33386400-33387200	Enhancers	Small Intestine	intestine
18	chr6:33386400-33387400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr6:33386400-33387400	Enhancers	Spleen	Spleen
20	chr6:33386400-33387600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr6:33386400-33387600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr6:33386400-33387600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr6:33386400-33387800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr6:33386400-33387800	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr6:33386600-33387200	Enhancers	Fetal Intestine Small	intestine
26	chr6:33386600-33387400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:33386600-33387400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:33386600-33387400	Enhancers	Primary B cells from peripheral blood	blood
29	chr6:33386600-33387400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:33386600-33387400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:33386600-33387400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:33386600-33387400	Enhancers	Brain Anterior Caudate	brain
33	chr6:33386600-33387400	Enhancers	Placenta	Placenta
34	chr6:33386600-33387400	Enhancers	Fetal Stomach	stomach
35	chr6:33386600-33387400	Enhancers	Fetal Thymus	thymus
36	chr6:33386600-33387400	Enhancers	NH-A	brain
37	chr6:33386600-33387600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:33386600-33387600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:33386600-33387600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr6:33386600-33387600	Weak transcription	Aorta	Aorta
41	chr6:33386600-33387600	Enhancers	Fetal Intestine Large	intestine
42	chr6:33386600-33387600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr6:33386600-33387600	Enhancers	Fetal Lung	lung
44	chr6:33386600-33387600	Enhancers	Fetal Muscle Trunk	muscle
45	chr6:33386600-33387600	Weak transcription	Ovary	ovary
46	chr6:33386600-33387600	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr6:33386600-33387800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr6:33386600-33387800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr6:33386600-33387800	Enhancers	Stomach Mucosa	stomach
50	chr6:33386600-33388000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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