Variant report

Variant	esv3444368
Chromosome Location	chr7:6654052-6656600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:118)
CpG islands
(count:427)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:118 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:6655726-6655804	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPD	chr7:6655616-6655901	HepG2	liver:	n/a	n/a
3	CHD2	chr7:6655768-6655863	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr7:6654611-6654649	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr7:6654840-6654990	SK-N-SH_RA	brain:	n/a	chr7:6654884-6654902
6	CTCF	chr7:6655620-6655770	HAc	cerebellar:	n/a	n/a
7	CTCF	chr7:6654840-6654990	NB4	blood:	n/a	chr7:6654884-6654902
8	CTCF	chr7:6654990-6655005	GM12891	blood:	n/a	n/a
9	CTCF	chr7:6654829-6654916	Spleen_OC	spleen:	n/a	chr7:6654884-6654902
10	CTCF	chr7:6654660-6654810	GM12866	blood:	n/a	n/a
11	CTCF	chr7:6654820-6654970	AG04450	lung:	n/a	chr7:6654884-6654902
12	CTCF	chr7:6654800-6654950	GM12866	blood:	n/a	chr7:6654884-6654902
13	CTCF	chr7:6654880-6655030	Caco-2	colon:	n/a	chr7:6654884-6654902
14	CTCF	chr7:6654878-6654920	GM19238	blood:	n/a	chr7:6654884-6654902
15	CTCF	chr7:6654780-6654930	WERI-Rb-1	eye:	n/a	chr7:6654884-6654902
16	CTCF	chr7:6654820-6654970	HEK293	kidney:	n/a	chr7:6654884-6654902
17	CTCF	chr7:6654840-6654990	HUVEC	blood vessel:	n/a	chr7:6654884-6654902
18	CTCF	chr7:6654890-6654950	GM19239	blood:	n/a	n/a
19	CTCF	chr7:6654877-6654887	GM19239	blood:	n/a	n/a
20	CTCF	chr7:6655580-6655730	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr7:6654843-6654940	H1-hESC	embryonic stem cell:	n/a	chr7:6654884-6654902
22	CTCF	chr7:6654852-6654989	GM12891	blood:	n/a	chr7:6654884-6654902
23	CTCF	chr7:6655600-6655750	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr7:6654760-6654910	SK-N-SH_RA	brain:	n/a	chr7:6654884-6654902
25	E2F6	chr7:6654120-6654801	H1-hESC	embryonic stem cell:	n/a	n/a
26	ELF1	chr7:6655532-6656005	GM12878	blood:	n/a	n/a
27	ELF1	chr7:6655597-6655928	HepG2	liver:	n/a	n/a
28	ELF1	chr7:6655528-6655999	HepG2	liver:	n/a	n/a
29	GABPA	chr7:6654917-6655317	HepG2	liver:	n/a	n/a
30	GABPA	chr7:6655034-6655450	SK-N-SH	brain:	n/a	n/a
31	GABPA	chr7:6654833-6655342	HepG2	liver:	n/a	n/a
32	GABPA	chr7:6655629-6655895	HepG2	liver:	n/a	n/a
33	HDAC2	chr7:6654702-6655124	HepG2	liver:	n/a	n/a
34	HDAC2	chr7:6655505-6655941	HepG2	liver:	n/a	n/a
35	HEY1	chr7:6655478-6655967	HepG2	liver:	n/a	n/a
36	HEY1	chr7:6654464-6655044	HepG2	liver:	n/a	chr7:6655007-6655022
37	MAX	chr7:6655482-6656196	ECC-1	luminal epithelium:	n/a	chr7:6656029-6656038
38	MAX	chr7:6655544-6656164	H1-hESC	embryonic stem cell:	n/a	chr7:6656029-6656038
39	MAX	chr7:6654600-6655165	ECC-1	luminal epithelium:	n/a	n/a
40	MAX	chr7:6654760-6655153	ECC-1	luminal epithelium:	n/a	n/a
41	MAX	chr7:6654678-6655267	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr7:6655522-6656263	SK-N-SH	brain:	n/a	chr7:6656029-6656038
43	MAX	chr7:6655502-6656292	ECC-1	luminal epithelium:	n/a	chr7:6656029-6656038
44	MAX	chr7:6655794-6656159	HepG2	liver:	n/a	chr7:6656029-6656038
45	MAX	chr7:6655547-6656120	H1-hESC	embryonic stem cell:	n/a	chr7:6656029-6656038
46	MAX	chr7:6655479-6655984	SK-N-SH	brain:	n/a	n/a
47	MAX	chr7:6654637-6655269	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr7:6654395-6656258	HepG2	liver:	n/a	chr7:6656029-6656038
49	MAX	chr7:6654939-6655028	HepG2	liver:	n/a	n/a
50	MAX	chr7:6655467-6656327	HepG2	liver:	n/a	chr7:6656029-6656038

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6655727-6655777	HepG2	liver:	n/a
2	chr7:6654422-6654472	BE2_C	brain:	n/a
3	chr7:6655711-6655761	Hela-S3	cervix:	n/a
4	chr7:6655834-6655884	MCF10A-Er-Src	breast:	n/a
5	chr7:6654422-6654472	GM12891	blood:	n/a
6	chr7:6655973-6656023	IMR90	lung:	fetal
7	chr7:6654880-6654930	HNPCEpiC	eye:	n/a
8	chr7:6655973-6656023	SK-N-SH_RA	brain:	n/a
9	chr7:6655834-6655884	AG09319	gingival:	n/a
10	chr7:6655711-6655761	BJ	skin:	n/a
11	chr7:6655711-6655761	HNPCEpiC	eye:	n/a
12	chr7:6655120-6655170	Jurkat	blood:	n/a
13	chr7:6655973-6656023	Jurkat	blood:	n/a
14	chr7:6655711-6655761	NH-A	brain:	n/a
15	chr7:6655120-6655170	HRE	kidney:	n/a
16	chr7:6654422-6654472	Hepatocyte	liver:	n/a
17	chr7:6655973-6656023	NHDF-neo	bronchial:	n/a
18	chr7:6655120-6655170	HepG2	liver:	n/a
19	chr7:6655834-6655884	SKMC	muscle:	n/a
20	chr7:6654422-6654472	NB4	blood:	n/a
21	chr7:6655834-6655884	HepG2	liver:	n/a
22	chr7:6654422-6654472	ProgFib	skin:	n/a
23	chr7:6655711-6655761	ovcar-3	ovarian:	n/a
24	chr7:6655727-6655777	T-47D	breast:	n/a
25	chr7:6655120-6655170	H1-hESC	embryonic stem cell:	embryo
26	chr7:6655120-6655170	SK-N-SH_RA	brain:	n/a
27	chr7:6655711-6655761	U87	brain:	n/a
28	chr7:6654880-6654930	T-47D	breast:	n/a
29	chr7:6655727-6655777	Hela-S3	cervix:	n/a
30	chr7:6654880-6654930	NB4	blood:	n/a
31	chr7:6655711-6655761	ProgFib	skin:	n/a
32	chr7:6655834-6655884	PrEC	prostate:	n/a
33	chr7:6655120-6655170	ProgFib	skin:	n/a
34	chr7:6655120-6655170	LNCaP	prostate:	n/a
35	chr7:6655727-6655777	HCPEpiC	choroid plexus:	n/a
36	chr7:6654880-6654930	AG04450	lung:	fetal
37	chr7:6655727-6655777	ovcar-3	ovarian:	n/a
38	chr7:6655727-6655777	H1-hESC	embryonic stem cell:	embryo
39	chr7:6655834-6655884	A549	lung:	n/a
40	chr7:6655120-6655170	MCF-7	breast:	n/a
41	chr7:6654422-6654472	PrEC	prostate:	n/a
42	chr7:6654880-6654930	HEEpiC	esophagus:	n/a
43	chr7:6655727-6655777	SKMC	muscle:	n/a
44	chr7:6655711-6655761	SK-N-MC	brain:	n/a
45	chr7:6655711-6655761	RPTEC	kidney:	n/a
46	chr7:6655973-6656023	HRPEpiC	eye:	n/a
47	chr7:6655834-6655884	AoSMC	blood vessel:	n/a
48	chr7:6654422-6654472	A549	lung:	n/a
49	chr7:6655834-6655884	NB4	blood:	n/a
50	chr7:6655834-6655884	U87	brain:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6628238..6630542-chr7:6653702..6656593,2	MCF-7	breast:
2	chr7:6628726..6630315-chr7:6654459..6656349,2	MCF-7	breast:
3	chr7:6652722..6654943-chr7:6655850..6658545,2	K562	blood:
4	chr7:6644575..6647418-chr7:6652621..6655088,2	K562	blood:
5	chr7:6654514..6658630-chr7:6675114..6678876,5	MCF-7	breast:
6	chr7:6649329..6651399-chr7:6652543..6654507,2	MCF-7	breast:
7	chr7:6652722..6654943-chr7:6655850..6658545,2	K562	blood:
8	chr7:6652934..6655791-chr7:6675915..6678392,2	MCF-7	breast:
9	chr7:6655297..6658106-chr7:6659491..6662615,3	K562	blood:

No data

Variant related genes	Relation type
ZNF853	TF binding region
ZNF853	CpG island
ENSG00000205903	chromatin interactions
ENSG00000232581	chromatin interactions
ENSG00000146576	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569016014	chr7:6654110-6654111	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs536538705	chr7:6654129-6654130	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs554614982	chr7:6654134-6654135	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs572972213	chr7:6654142-6654143	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs533782950	chr7:6654172-6654173	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs374304339	chr7:6654194-6654195	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs558652910	chr7:6654242-6654243	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs183186731	chr7:6654245-6654246	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs544184185	chr7:6654296-6654297	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs79153619	chr7:6654302-6654303	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs574388345	chr7:6654322-6654323	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs542504522	chr7:6654337-6654338	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs560647796	chr7:6654342-6654343	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs187894101	chr7:6654354-6654355	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs62441318	chr7:6654398-6654399	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs370699356	chr7:6654403-6654404	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs564214736	chr7:6654409-6654410	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs531700814	chr7:6654421-6654422	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs574309717	chr7:6654442-6654443	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs113998039	chr7:6654496-6654497	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs115193745	chr7:6654520-6654521	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs200312532	chr7:6654579-6654580	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs113898030	chr7:6654606-6654607	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs367939380	chr7:6654607-6654608	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs533949042	chr7:6654649-6654650	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs558792138	chr7:6654700-6654701	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs371511711	chr7:6654721-6654722	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs374325515	chr7:6654740-6654741	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs537927319	chr7:6654746-6654747	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs556029521	chr7:6654772-6654773	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs541695616	chr7:6654866-6654867	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs201557569	chr7:6654890-6654891	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs144041730	chr7:6654903-6654904	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs572671843	chr7:6655024-6655025	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs35887049	chr7:6655050-6655051	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs111893997	chr7:6655057-6655058	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs545946637	chr7:6655066-6655067	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs535658185	chr7:6655131-6655132	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs111378599	chr7:6655178-6655179	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs571934160	chr7:6655473-6655474	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs13231310	chr7:6655479-6655480	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs531832553	chr7:6655481-6655482	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs543491187	chr7:6655504-6655505	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs562077319	chr7:6655518-6655519	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs529255288	chr7:6655537-6655538	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs547498561	chr7:6655551-6655552	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs11762851	chr7:6655626-6655627	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs146860201	chr7:6655630-6655631	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs13311799	chr7:6655631-6655632	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs552542783	chr7:6655691-6655692	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Autism	20685689	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6636000-6654600	Weak transcription	Psoas Muscle	Psoas
2	chr7:6642000-6654400	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:6642000-6654400	Weak transcription	Fetal Brain Male	brain
4	chr7:6642400-6654600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:6642600-6654400	Weak transcription	Fetal Kidney	kidney
6	chr7:6642600-6654400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:6642600-6654600	Weak transcription	Brain Angular Gyrus	brain
8	chr7:6642800-6654600	Weak transcription	HSMM	muscle
9	chr7:6644400-6654400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:6644400-6654400	Weak transcription	Brain Substantia Nigra	brain
11	chr7:6644600-6654400	Weak transcription	Fetal Lung	lung
12	chr7:6644800-6654400	Weak transcription	Ovary	ovary
13	chr7:6645200-6654200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr7:6645800-6654200	Weak transcription	Primary B cells from cord blood	blood
15	chr7:6646200-6654400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:6646600-6654400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:6647400-6654400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:6648000-6654400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:6648200-6654200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr7:6648200-6654400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:6648200-6654400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:6648200-6654400	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:6648200-6654600	Weak transcription	Left Ventricle	heart
24	chr7:6648400-6654400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:6648400-6654600	Weak transcription	Primary T cells from cord blood	blood
26	chr7:6648400-6654600	Weak transcription	Pancreas	Pancrea
27	chr7:6648400-6654600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:6648600-6654200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:6648600-6654600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:6648600-6654600	Weak transcription	Esophagus	oesophagus
31	chr7:6648800-6654200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:6648800-6654400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:6648800-6654600	Weak transcription	Gastric	stomach
34	chr7:6648800-6654600	Weak transcription	Lung	lung
35	chr7:6648800-6654800	Weak transcription	Aorta	Aorta
36	chr7:6649000-6654400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:6649000-6654400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr7:6649200-6654200	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:6649400-6654200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:6649400-6654400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:6649400-6654400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:6649400-6654400	Weak transcription	Fetal Brain Female	brain
43	chr7:6649400-6654400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr7:6649400-6654400	Weak transcription	Spleen	Spleen
45	chr7:6649400-6654600	Weak transcription	Right Ventricle	heart
46	chr7:6649600-6654400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:6649600-6654400	Weak transcription	Brain Anterior Caudate	brain
48	chr7:6649600-6654400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:6650600-6654400	Weak transcription	Brain Germinal Matrix	brain
50	chr7:6650800-6654400	Weak transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links