Variant report

Variant	esv3405382
Chromosome Location	chr8:67686223-67688771
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:67687015-67687779	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:67688533-67688870	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:67686923-67687383	K562	blood:	n/a	n/a
4	ATF1	chr8:67686237-67687518	K562	blood:	n/a	n/a
5	ATF2	chr8:67686950-67687392	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr8:67686828-67687282	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr8:67687441-67687888	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr8:67686961-67687652	A549	lung:	n/a	chr8:67687400-67687413
9	BCLAF1	chr8:67687330-67687871	GM12878	blood:	n/a	chr8:67687400-67687413
10	BHLHE40	chr8:67686664-67688190	K562	blood:	n/a	chr8:67687394-67687410 chr8:67687405-67687421 chr8:67687448-67687464
11	BHLHE40	chr8:67686475-67687944	HepG2	liver:	n/a	chr8:67687394-67687410 chr8:67687405-67687421 chr8:67687448-67687464
12	BHLHE40	chr8:67687191-67688038	GM12878	blood:	n/a	chr8:67687394-67687410 chr8:67687405-67687421 chr8:67687448-67687464
13	BRCA1	chr8:67687433-67688086	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr8:67687555-67687560	HepG2	liver:	n/a	n/a
15	CBX3	chr8:67686619-67687218	K562	blood:	n/a	n/a
16	CBX3	chr8:67687296-67687969	K562	blood:	n/a	n/a
17	CCNT2	chr8:67687156-67687856	K562	blood:	n/a	chr8:67687410-67687419
18	CEBPB	chr8:67687327-67688271	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr8:67688498-67688860	Hela-S3	cervix:	n/a	chr8:67688661-67688674 chr8:67688663-67688674 chr8:67688663-67688674 chr8:67688661-67688674
20	CEBPB	chr8:67688502-67688837	IMR90	lung:	n/a	chr8:67688661-67688674 chr8:67688663-67688674 chr8:67688663-67688674 chr8:67688661-67688674
21	CEBPD	chr8:67687004-67687696	HepG2	liver:	n/a	n/a
22	CEBPD	chr8:67687356-67687826	HepG2	liver:	n/a	n/a
23	CHD1	chr8:67687564-67687700	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD1	chr8:67686899-67687910	GM12878	blood:	n/a	n/a
25	CHD2	chr8:67687104-67687623	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr8:67686800-67687671	K562	blood:	n/a	n/a
27	CHD2	chr8:67687289-67687755	GM12878	blood:	n/a	n/a
28	CHD2	chr8:67686873-67687925	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr8:67687047-67687177	HepG2	liver:	n/a	n/a
30	CHD2	chr8:67687398-67687783	HepG2	liver:	n/a	n/a
31	CREB1	chr8:67686811-67688019	HepG2	liver:	n/a	chr8:67687029-67687042
32	CREB1	chr8:67686624-67687835	H1-hESC	embryonic stem cell:	n/a	chr8:67687029-67687042
33	CREB1	chr8:67687272-67687628	A549	lung:	n/a	n/a
34	CREB1	chr8:67687246-67687812	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTBP2	chr8:67686726-67687927	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr8:67687420-67687570	NHEK	skin:	n/a	chr8:67687420-67687428
37	CTCF	chr8:67687420-67687570	GM12865	blood:	n/a	chr8:67687420-67687428
38	CTCF	chr8:67687420-67687570	HEK293	kidney:	n/a	chr8:67687420-67687428
39	CTCF	chr8:67687560-67687710	GM12872	blood:	n/a	n/a
40	CTCF	chr8:67687400-67687550	GM12869	blood:	n/a	chr8:67687420-67687428 chr8:67687404-67687417
41	CTCF	chr8:67687413-67687596	Fibrobl	skin:	n/a	chr8:67687420-67687428
42	CTCF	chr8:67687420-67687570	HL-60	blood:	n/a	chr8:67687420-67687428
43	CTCF	chr8:67687431-67687549	K562	blood:	n/a	n/a
44	CTCF	chr8:67687238-67687688	GM12878	blood:	n/a	chr8:67687420-67687428 chr8:67687404-67687417
45	CTCF	chr8:67687440-67687590	AG04449	skin:	n/a	n/a
46	CTCF	chr8:67687400-67687550	SK-N-SH_RA	brain:	n/a	chr8:67687420-67687428 chr8:67687404-67687417
47	CTCF	chr8:67687340-67687490	HEEpiC	esophagus:	n/a	chr8:67687420-67687428 chr8:67687404-67687417
48	CTCF	chr8:67687481-67687564	Gliobla	brain:	n/a	n/a
49	CTCF	chr8:67687316-67687659	K562	blood:	n/a	chr8:67687420-67687428 chr8:67687404-67687417
50	CTCF	chr8:67687468-67687516	Pancreas_OC	pancreas:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:67687318-67687368	HCF	heart:	n/a
2	chr8:67687318-67687368	HCF	heart:	n/a
3	chr8:67687675-67687725	IMR90	lung:	fetal
4	chr8:67686767-67686817	NH-A	brain:	n/a
5	chr8:67686871-67686921	HRPEpiC	eye:	n/a
6	chr8:67688534-67688584	HEK293	kidney:	embryo
7	chr8:67687356-67687406	AG09309	skin:	n/a
8	chr8:67688534-67688584	LNCaP	prostate:	n/a
9	chr8:67687474-67687524	HPAEpiC	pulmonary alveolar:	n/a
10	chr8:67687318-67687368	HMEC	breast:	n/a
11	chr8:67687406-67687456	NB4	blood:	n/a
12	chr8:67687060-67687110	HepG2	liver:	n/a
13	chr8:67687060-67687110	Hela-S3	cervix:	n/a
14	chr8:67687437-67687487	GM12878	blood:	n/a
15	chr8:67687455-67687505	MCF-7	breast:	n/a
16	chr8:67687318-67687368	HRPEpiC	eye:	n/a
17	chr8:67686871-67686921	RPTEC	kidney:	n/a
18	chr8:67686767-67686817	HCF	heart:	n/a
19	chr8:67686767-67686817	GM12891	blood:	n/a
20	chr8:67686767-67686817	HRPEpiC	eye:	n/a
21	chr8:67687060-67687110	BE2_C	brain:	n/a
22	chr8:67687675-67687725	HL-60	blood:	n/a
23	chr8:67687371-67687421	GM19239	blood:	n/a
24	chr8:67687356-67687406	GM12892	blood:	n/a
25	chr8:67686852-67686902	GM12892	blood:	n/a
26	chr8:67687455-67687505	PANC-1	pancreas:	n/a
27	chr8:67687318-67687368	MCF10A-Er-Src	breast:	n/a
28	chr8:67687474-67687524	HRPEpiC	eye:	n/a
29	chr8:67687060-67687110	GM12892	blood:	n/a
30	chr8:67686942-67686992	SKMC	muscle:	n/a
31	chr8:67686852-67686902	Caco-2	colon:	n/a
32	chr8:67687356-67687406	AG09319	gingival:	n/a
33	chr8:67686767-67686817	AG10803	skin:	n/a
34	chr8:67688534-67688584	H1-hESC	embryonic stem cell:	embryo
35	chr8:67687318-67687368	IMR90	lung:	fetal
36	chr8:67686852-67686902	PANC-1	pancreas:	n/a
37	chr8:67688534-67688584	SKMC	muscle:	n/a
38	chr8:67687060-67687110	AG09319	gingival:	n/a
39	chr8:67687675-67687725	NT2-D1	testis:	n/a
40	chr8:67687437-67687487	GM06990	blood:	n/a
41	chr8:67686871-67686921	HEEpiC	esophagus:	n/a
42	chr8:67688534-67688584	K562	blood:	n/a
43	chr8:67687371-67687421	GM06990	blood:	n/a
44	chr8:67687060-67687110	Jurkat	blood:	n/a
45	chr8:67686767-67686817	AG09319	gingival:	n/a
46	chr8:67686871-67686921	SKMC	muscle:	n/a
47	chr8:67686767-67686817	LNCaP	prostate:	n/a
48	chr8:67686852-67686902	Jurkat	blood:	n/a
49	chr8:67686942-67686992	HL-60	blood:	n/a
50	chr8:67686871-67686921	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:67679605..67685169-chr8:67685347..67688416,6	MCF-7	breast:
2	chr8:67688763..67692905-chr8:67695253..67699277,4	K562	blood:
3	chr14:20922332..20925092-chr8:67686115..67688747,2	MCF-7	breast:
4	chr8:67679426..67682850-chr8:67685212..67688509,3	MCF-7	breast:
5	chr19:10764662..10765449-chr8:67687390..67687995,2	Hela-S3	cervix:
6	chr20:26190004..26190733-chr8:67687205..67687727,4	MCF-7	breast:
7	chr8:67687366..67688870-chr8:67714479..67716823,2	MCF-7	breast:
8	chr8:67624145..67628067-chr8:67684003..67690579,11	MCF-7	breast:
9	chr8:67623840..67628206-chr8:67684536..67689963,10	MCF-7	breast:
10	chr8:67686161..67689126-chr8:67837035..67839189,3	MCF-7	breast:
11	chr17:56756420..56757356-chr8:67687029..67687539,2	Hela-S3	cervix:
12	chr8:67688763..67691724-chr8:67695253..67698238,2	K562	blood:
13	chr8:67524115..67526215-chr8:67685855..67687886,2	K562	blood:

Variant related genes	Relation type
SGK3	TF binding region
SGK3	CpG island
ENSG00000185697	chromatin interactions
ENSG00000092094	chromatin interactions
ENSG00000227195	chromatin interactions
ENSG00000104205	chromatin interactions
ENSG00000245910	chromatin interactions
ENSG00000200997	chromatin interactions
ENSG00000213005	chromatin interactions
ENSG00000129351	chromatin interactions
ENSG00000100823	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373081844	chr8:67686229-67686230	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs139408836	chr8:67686247-67686248	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs11995256	chr8:67686255-67686256	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs563441947	chr8:67686371-67686372	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs532261676	chr8:67686460-67686461	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs552184028	chr8:67686463-67686464	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs116553813	chr8:67686484-67686485	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs528435798	chr8:67686503-67686504	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs549571353	chr8:67686552-67686553	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs192819054	chr8:67686586-67686587	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs568496519	chr8:67686600-67686601	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs77384252	chr8:67686601-67686602	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs551144805	chr8:67686655-67686656	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs571208236	chr8:67686664-67686665	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs13257882	chr8:67686667-67686668	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs540116091	chr8:67686713-67686714	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs75118558	chr8:67686805-67686806	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs572086198	chr8:67686851-67686852	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs534582359	chr8:67686951-67686952	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs183318862	chr8:67687049-67687050	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs554369395	chr8:67687071-67687072	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs188100809	chr8:67687094-67687095	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs191732033	chr8:67687155-67687156	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs557100683	chr8:67687176-67687177	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs576763764	chr8:67687193-67687194	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs545710910	chr8:67687298-67687299	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs73691586	chr8:67687324-67687325	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528472016	chr8:67687342-67687343	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs542168159	chr8:67687435-67687436	Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs562081722	chr8:67687449-67687450	Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs550922162	chr8:67687478-67687479	Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs571040951	chr8:67687484-67687485	Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs533530298	chr8:67687487-67687488	Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs142632105	chr8:67687500-67687501	Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs567121482	chr8:67687547-67687548	Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs534329989	chr8:67687583-67687584	Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs35461374	chr8:67687609-67687610	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs554538090	chr8:67687696-67687697	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs544870500	chr8:67687742-67687743	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs568105992	chr8:67687746-67687747	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs183953841	chr8:67687840-67687841	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs150980067	chr8:67687843-67687844	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs188284740	chr8:67687903-67687904	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs548779882	chr8:67687907-67687908	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs545549446	chr8:67687912-67687913	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs552859129	chr8:67687928-67687929	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs573083561	chr8:67687951-67687952	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs541905697	chr8:67687966-67687967	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs372088878	chr8:67687968-67687969	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs75685434	chr8:67687987-67687988	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67664600-67686400	Weak transcription	Right Atrium	heart
2	chr8:67683000-67686600	Enhancers	HepG2	liver
3	chr8:67684000-67686400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:67684000-67686400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:67684200-67686400	Weak transcription	Brain Anterior Caudate	brain
6	chr8:67684400-67686400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:67685200-67686600	Enhancers	Brain Substantia Nigra	brain
8	chr8:67685400-67686600	Weak transcription	Pancreas	Pancrea
9	chr8:67685800-67686400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:67685800-67686600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:67686000-67686400	Enhancers	Brain Angular Gyrus	brain
12	chr8:67686000-67686400	Enhancers	Fetal Heart	heart
13	chr8:67686000-67686600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:67686000-67686600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:67686000-67686800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:67686200-67686400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
17	chr8:67686200-67686400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:67686200-67686400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:67686200-67686400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr8:67686200-67686400	Enhancers	Brain Cingulate Gyrus	brain
21	chr8:67686200-67686400	Enhancers	Rectal Smooth Muscle	rectum
22	chr8:67686200-67686400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr8:67686200-67686400	Enhancers	A549	lung
24	chr8:67686200-67686400	Enhancers	Hela-S3	cervix
25	chr8:67686200-67686400	Enhancers	HUVEC	blood vessel
26	chr8:67686200-67686600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
27	chr8:67686200-67686600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr8:67686200-67686600	Enhancers	Primary hematopoietic stem cells	blood
29	chr8:67686200-67686600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:67686200-67686600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:67686200-67686600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:67686200-67686600	Enhancers	Adipose Nuclei	Adipose
33	chr8:67686200-67686600	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr8:67686200-67686600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:67686200-67686600	Enhancers	Fetal Intestine Small	intestine
36	chr8:67686200-67686600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr8:67686200-67686600	Enhancers	K562	blood
38	chr8:67686200-67686600	Enhancers	NHDF-Ad	bronchial
39	chr8:67686200-67687000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:67686400-67686600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:67686400-67686600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
42	chr8:67686400-67686600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:67686400-67686600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:67686400-67686600	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr8:67686400-67686600	Enhancers	Primary T cells from cord blood	blood
46	chr8:67686400-67686600	Enhancers	Primary T cells fromperipheralblood	blood
47	chr8:67686400-67686600	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr8:67686400-67686600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:67686400-67686600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr8:67686400-67686600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links