Variant report

Variant	esv1843819
Chromosome Location	chr6:35457396-35465749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:806)
CpG islands
(count:671)
Chromatin interactive
region (count:47)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:806 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr6:35457784-35458466	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr6:35465448-35466198	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr6:35457698-35458435	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr6:35457764-35458191	K562	blood:	n/a	chr6:35458070-35458079
5	ATF3	chr6:35457838-35458096	K562	blood:	n/a	chr6:35458070-35458079
6	BACH1	chr6:35465385-35465467	K562	blood:	n/a	n/a
7	BACH1	chr6:35463936-35464216	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr6:35458271-35458396	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr6:35465018-35466097	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr6:35463553-35463623	K562	blood:	n/a	n/a
11	BCL3	chr6:35461134-35461728	GM12878	blood:	n/a	n/a
12	BCL3	chr6:35461202-35461714	GM12878	blood:	n/a	n/a
13	BHLHE40	chr6:35464925-35466949	K562	blood:	n/a	chr6:35465324-35465340 chr6:35466465-35466481
14	BHLHE40	chr6:35458072-35458403	K562	blood:	n/a	n/a
15	BHLHE40	chr6:35465035-35465358	GM12878	blood:	n/a	chr6:35465324-35465340
16	BHLHE40	chr6:35463875-35464243	K562	blood:	n/a	n/a
17	CBX3	chr6:35465319-35466849	K562	blood:	n/a	n/a
18	CBX3	chr6:35465435-35465782	K562	blood:	n/a	n/a
19	CBX3	chr6:35463719-35464260	K562	blood:	n/a	n/a
20	CCNT2	chr6:35464027-35466338	K562	blood:	n/a	chr6:35464480-35464489 chr6:35464739-35464748 chr6:35464464-35464473 chr6:35464364-35464373
21	CCNT2	chr6:35457927-35458280	K562	blood:	n/a	chr6:35458070-35458079 chr6:35458117-35458126 chr6:35458122-35458131
22	CEBPB	chr6:35460775-35460910	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr6:35460724-35461067	IMR90	lung:	n/a	n/a
24	CEBPB	chr6:35460746-35461053	K562	blood:	n/a	n/a
25	CEBPB	chr6:35462803-35462940	K562	blood:	n/a	n/a
26	CEBPB	chr6:35460750-35461058	HepG2	liver:	n/a	n/a
27	CEBPB	chr6:35462809-35463009	HepG2	liver:	n/a	n/a
28	CEBPB	chr6:35460761-35461040	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPD	chr6:35465562-35465982	HepG2	liver:	n/a	n/a
30	CEBPD	chr6:35464886-35465232	HepG2	liver:	n/a	n/a
31	CEBPD	chr6:35464085-35464869	HepG2	liver:	n/a	n/a
32	CHD1	chr6:35465591-35466082	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD1	chr6:35458253-35458386	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr6:35464140-35464171	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr6:35457928-35458288	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr6:35465634-35465895	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr6:35464674-35464717	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr6:35464391-35466037	Hela-S3	cervix:	n/a	chr6:35465063-35465073 chr6:35465017-35465027 chr6:35465585-35465595 chr6:35465520-35465530
39	CHD2	chr6:35465678-35465729	K562	blood:	n/a	n/a
40	CREB1	chr6:35457732-35458527	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr6:35464980-35465367	A549	lung:	n/a	n/a
42	CREB1	chr6:35457816-35458212	ECC-1	luminal epithelium:	n/a	n/a
43	CREB1	chr6:35457738-35458384	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr6:35463565-35466162	HepG2	liver:	n/a	n/a
45	CTBP2	chr6:35465183-35466438	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTBP2	chr6:35459235-35460090	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr6:35465553-35465691	MCF-7	breast:	n/a	n/a
48	CTCF	chr6:35464640-35464790	AG04450	lung:	n/a	n/a
49	CTCF	chr6:35465404-35465660	K562	blood:	n/a	n/a
50	CTCF	chr6:35464600-35464750	AoAF	blood vessel:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:35465342-35465392	K562	blood:	n/a
2	chr6:35464536-35464586	HAEpiC	amniotic membrane:	n/a
3	chr6:35464304-35464354	SK-N-SH	brain:	n/a
4	chr6:35461520-35461570	LNCaP	prostate:	n/a
5	chr6:35461405-35461455	ProgFib	skin:	n/a
6	chr6:35461405-35461455	HNPCEpiC	eye:	n/a
7	chr6:35464939-35464989	SK-N-MC	brain:	n/a
8	chr6:35463625-35463675	IMR90	lung:	fetal
9	chr6:35463625-35463675	SK-N-MC	brain:	n/a
10	chr6:35461520-35461570	HMEC	breast:	n/a
11	chr6:35463625-35463675	ovcar-3	ovarian:	n/a
12	chr6:35464571-35464621	HCF	heart:	n/a
13	chr6:35464571-35464621	PANC-1	pancreas:	n/a
14	chr6:35461818-35461868	AG04449	skin:	fetal
15	chr6:35463625-35463675	PFSK-1	brain:	n/a
16	chr6:35461818-35461868	HPAEpiC	pulmonary alveolar:	n/a
17	chr6:35464304-35464354	SK-N-MC	brain:	n/a
18	chr6:35461818-35461868	GM06990	blood:	n/a
19	chr6:35461236-35461286	HAEpiC	amniotic membrane:	n/a
20	chr6:35458416-35458466	ovcar-3	ovarian:	n/a
21	chr6:35463625-35463675	NHDF-neo	bronchial:	n/a
22	chr6:35461236-35461286	LNCaP	prostate:	n/a
23	chr6:35464939-35464989	HMEC	breast:	n/a
24	chr6:35461520-35461570	GM19239	blood:	n/a
25	chr6:35464536-35464586	GM06990	blood:	n/a
26	chr6:35461236-35461286	SKMC	muscle:	n/a
27	chr6:35461236-35461286	AoSMC	blood vessel:	n/a
28	chr6:35461405-35461455	HMEC	breast:	n/a
29	chr6:35464304-35464354	Caco-2	colon:	n/a
30	chr6:35464939-35464989	HCPEpiC	choroid plexus:	n/a
31	chr6:35461405-35461455	AG04449	skin:	fetal
32	chr6:35465342-35465392	HCT-116	colon:	n/a
33	chr6:35458416-35458466	A549	lung:	n/a
34	chr6:35461405-35461455	HCT-116	colon:	n/a
35	chr6:35461520-35461570	NHDF-neo	bronchial:	n/a
36	chr6:35461405-35461455	HUVEC	blood vessel:	n/a
37	chr6:35463625-35463675	MCF-7	breast:	n/a
38	chr6:35464304-35464354	HepG2	liver:	n/a
39	chr6:35463625-35463675	HCT-116	colon:	n/a
40	chr6:35461405-35461455	HCF	heart:	n/a
41	chr6:35464571-35464621	SK-N-SH_RA	brain:	n/a
42	chr6:35461405-35461455	HIPEpiC	eye:	n/a
43	chr6:35464536-35464586	U87	brain:	n/a
44	chr6:35458416-35458466	SK-N-SH	brain:	n/a
45	chr6:35465342-35465392	Jurkat	blood:	n/a
46	chr6:35464536-35464586	MCF-7	breast:	n/a
47	chr6:35458416-35458466	HRCEpiC	kidney:	n/a
48	chr6:35461405-35461455	NHDF-neo	bronchial:	n/a
49	chr6:35458416-35458466	SK-N-SH_RA	brain:	n/a
50	chr6:35464939-35464989	NH-A	brain:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35270724..35273111-chr6:35465041..35467348,2	K562	blood:
2	chr6:35462682..35465009-chr6:35702407..35705389,2	K562	blood:
3	chr5:43514826..43515720-chr6:35464905..35465668,2	Hela-S3	cervix:
4	chr6:35264944..35267460-chr6:35465302..35468823,3	MCF-7	breast:
5	chr6:35465082..35466862-chr6:35699908..35701462,2	MCF-7	breast:
6	chr6:35463571..35465690-chr6:35654249..35656915,2	K562	blood:
7	chr6:35225785..35227535-chr6:35464894..35467017,2	K562	blood:
8	chr6:35310116..35312027-chr6:35462385..35465150,2	MCF-7	breast:
9	chr6:35310112..35312932-chr6:35464368..35466518,2	K562	blood:
10	chr6:35465223..35467694-chr6:35696445..35698937,2	K562	blood:
11	chr6:35228241..35230981-chr6:35457144..35459454,2	K562	blood:
12	chr6:35263661..35265616-chr6:35463054..35466039,2	MCF-7	breast:
13	chr6:35423795..35426623-chr6:35465037..35468781,3	K562	blood:
14	chr1:153699734..153700587-chr6:35465219..35465916,2	Hela-S3	cervix:
15	chr2:176033099..176033744-chr6:35465562..35466338,2	Hela-S3	cervix:
16	chr6:35435808..35436604-chr6:35464010..35464598,3	Hela-S3	cervix:
17	chr6:35310058..35310620-chr6:35464293..35465068,2	K562	blood:
18	chr6:35260813..35263112-chr6:35464822..35466518,2	K562	blood:
19	chr20:47894747..47895275-chr6:35464852..35465455,2	Hela-S3	cervix:
20	chr6:35465446..35468035-chr6:35607430..35610345,2	K562	blood:
21	chr6:35463384..35465009-chr6:35703029..35705389,2	K562	blood:
22	chr6:35309583..35312440-chr6:35457595..35459373,2	K562	blood:
23	chr1:210547375..210547960-chr6:35465386..35466203,2	Hela-S3	cervix:
24	chr21:46237169..46238057-chr6:35464670..35465479,2	Hela-S3	cervix:
25	chr19:11198114..11200950-chr6:35464173..35466447,2	K562	blood:
26	chr6:35310114..35311915-chr6:35462651..35465491,3	MCF-7	breast:
27	chr6:35464935..35465692-chr7:44835784..44836776,2	Hela-S3	cervix:
28	chr6:35284828..35287502-chr6:35459599..35462310,2	MCF-7	breast:
29	chr11:33757381..33758237-chr6:35465059..35466295,3	Hela-S3	cervix:
30	chr6:35376688..35379327-chr6:35465068..35467470,3	K562	blood:
31	chr6:35465083..35467815-chr6:35613967..35615894,2	MCF-7	breast:
32	chr6:35464601..35467910-chr6:35655207..35659461,3	K562	blood:
33	chr6:35419956..35422517-chr6:35464991..35466898,2	MCF-7	breast:
34	chr6:35462442..35464169-chr6:35698121..35700196,2	MCF-7	breast:
35	chr6:35465054..35467000-chr6:36192851..36194879,2	MCF-7	breast:
36	chr6:35265003..35267090-chr6:35463346..35464932,2	K562	blood:
37	chr6:35464312..35466499-chr6:35694204..35696742,2	MCF-7	breast:
38	chr17:7387197..7388120-chr6:35464620..35465289,2	Hela-S3	cervix:
39	chr17:36905700..36906366-chr6:35464667..35465593,2	Hela-S3	cervix:
40	chr20:15349649..15350459-chr6:35465170..35465747,2	MCF-7	breast:
41	chr6:35289938..35291662-chr6:35465459..35467668,2	K562	blood:
42	chr6:35227208..35228940-chr6:35464081..35465836,2	K562	blood:
43	chr6:35418643..35423313-chr6:35462563..35468017,10	K562	blood:
44	chr5:130531404..130532060-chr6:35465194..35466059,2	Hela-S3	cervix:
45	chr6:35308828..35312440-chr6:35455977..35459373,3	K562	blood:
46	chr6:35427041..35429819-chr6:35457117..35459807,2	K562	blood:
47	chr6:35464241..35466956-chr6:35695881..35700309,4	MCF-7	breast:

No data

Variant related genes	Relation type
TEAD3	TF binding region
TEAD3	CpG island
ENSG00000157343	chromatin interactions
ENSG00000172244	chromatin interactions
ENSG00000065029	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000112039	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000248240	chromatin interactions
ENSG00000115966	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000198755	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000130164	chromatin interactions
ENSG00000056661	chromatin interactions
ENSG00000096060	chromatin interactions
ENSG00000143624	chromatin interactions
ENSG00000085063	chromatin interactions
ENSG00000196262	chromatin interactions
ENSG00000023892	chromatin interactions
ENSG00000232909	chromatin interactions
ENSG00000112033	chromatin interactions

Extended variants
information (count: 324 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7740758	chr6:35457396-35457397	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs189015564	chr6:35457398-35457399	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192500779	chr6:35457405-35457406	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368329622	chr6:35457409-35457410	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554165567	chr6:35457419-35457420	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184249016	chr6:35457458-35457459	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs7740891	chr6:35457473-35457474	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs556071195	chr6:35457475-35457476	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189600462	chr6:35457505-35457506	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs35366518	chr6:35457536-35457537	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545671312	chr6:35457596-35457597	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191532527	chr6:35457641-35457642	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7740827	chr6:35457677-35457678	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs72894778	chr6:35457727-35457728	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs377185613	chr6:35457735-35457736	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs9366886	chr6:35457842-35457843	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
17	rs543011209	chr6:35457875-35457876	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs561277425	chr6:35457966-35457967	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs531794960	chr6:35457969-35457970	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs565833482	chr6:35457971-35457972	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs11756511	chr6:35457979-35457980	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373003294	chr6:35458007-35458008	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs550346360	chr6:35458017-35458018	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565066230	chr6:35458032-35458033	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376561068	chr6:35458052-35458053	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs555546729	chr6:35458067-35458068	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532240923	chr6:35458148-35458149	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547648109	chr6:35458156-35458157	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs565808190	chr6:35458159-35458160	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs536563270	chr6:35458166-35458167	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs556542418	chr6:35458185-35458186	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs150624230	chr6:35458204-35458205	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs77374358	chr6:35458225-35458226	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs558269193	chr6:35458269-35458270	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs578110205	chr6:35458314-35458315	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs538887655	chr6:35458323-35458324	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs554362462	chr6:35458336-35458337	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572614113	chr6:35458341-35458342	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183906485	chr6:35458380-35458381	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs554999853	chr6:35458397-35458398	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs369405014	chr6:35458399-35458400	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543918262	chr6:35458401-35458402	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs565263669	chr6:35458403-35458404	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532660526	chr6:35458405-35458406	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540833718	chr6:35458433-35458434	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs373303844	chr6:35458435-35458436	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs78958108	chr6:35458489-35458490	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529898887	chr6:35458532-35458533	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs548123905	chr6:35458537-35458538	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569299287	chr6:35458564-35458565	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:884 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35438200-35458000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:35441800-35458200	Weak transcription	Brain Substantia Nigra	brain
3	chr6:35443200-35458000	Weak transcription	Brain Anterior Caudate	brain
4	chr6:35443600-35462000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:35444200-35457800	Weak transcription	Brain Germinal Matrix	brain
6	chr6:35452200-35458200	Enhancers	Fetal Heart	heart
7	chr6:35452400-35460000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:35452400-35461400	Enhancers	NH-A	brain
9	chr6:35454200-35458200	Enhancers	HSMMtube	muscle
10	chr6:35454200-35458400	Weak transcription	HepG2	liver
11	chr6:35454200-35459400	Weak transcription	Liver	Liver
12	chr6:35454400-35457800	Enhancers	Fetal Muscle Leg	muscle
13	chr6:35454400-35459000	Enhancers	Placenta	Placenta
14	chr6:35454600-35457400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:35454600-35457400	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr6:35454600-35457800	Weak transcription	Spleen	Spleen
17	chr6:35454600-35458000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:35454600-35458200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:35454600-35458200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:35454600-35458200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:35454600-35458200	Enhancers	Fetal Intestine Large	intestine
22	chr6:35454600-35458200	Genic enhancers	Fetal Intestine Small	intestine
23	chr6:35454600-35458200	Enhancers	Fetal Stomach	stomach
24	chr6:35454600-35459200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr6:35454600-35461200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:35454800-35457400	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr6:35454800-35457600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:35454800-35457600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr6:35454800-35457800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr6:35454800-35458000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr6:35454800-35458200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr6:35454800-35458200	Weak transcription	Adipose Nuclei	Adipose
33	chr6:35454800-35458200	Enhancers	Rectal Smooth Muscle	rectum
34	chr6:35454800-35460200	Enhancers	HMEC	breast
35	chr6:35455000-35458200	Weak transcription	Aorta	Aorta
36	chr6:35455200-35457800	Enhancers	NHLF	lung
37	chr6:35455200-35460000	Weak transcription	Fetal Kidney	kidney
38	chr6:35455200-35461400	Enhancers	Fetal Lung	lung
39	chr6:35455400-35457800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:35455400-35457800	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr6:35455400-35457800	Enhancers	Osteobl	bone
42	chr6:35455400-35460800	Enhancers	K562	blood
43	chr6:35455400-35463400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:35455800-35458600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:35456000-35458200	Weak transcription	Brain Angular Gyrus	brain
46	chr6:35456000-35461600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr6:35456200-35458000	Weak transcription	Fetal Brain Female	brain
48	chr6:35456200-35458000	Weak transcription	Right Atrium	heart
49	chr6:35456200-35458200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:35456200-35461600	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links