Variant report

Variant	nsv1038032
Chromosome Location	chr11:72925347-72966442
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1556)
CpG islands
(count:1529)
Chromatin interactive
region (count:85)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1556 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:72948011-72948277	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:72948846-72949143	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:72944921-72945053	HepG2	liver:	n/a	n/a
4	ARID3A	chr11:72953520-72954071	HepG2	liver:	n/a	n/a
5	ATF2	chr11:72925524-72925997	GM12878	blood:	n/a	n/a
6	BACH1	chr11:72959863-72960158	H1-hESC	embryonic stem cell:	n/a	chr11:72960028-72960042
7	BACH1	chr11:72929448-72929844	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr11:72959903-72960189	K562	blood:	n/a	chr11:72960028-72960042
9	BACH1	chr11:72953603-72954075	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr11:72951595-72951942	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr11:72953350-72954128	A549	lung:	n/a	chr11:72953585-72953594 chr11:72953579-72953588 chr11:72953576-72953585
12	BCL3	chr11:72928891-72929855	A549	lung:	n/a	chr11:72929210-72929223 chr11:72929576-72929584
13	BHLHE40	chr11:72953337-72953866	K562	blood:	n/a	n/a
14	BHLHE40	chr11:72948933-72949184	K562	blood:	n/a	chr11:72949056-72949065 chr11:72949055-72949064 chr11:72949050-72949071 chr11:72949056-72949065
15	BHLHE40	chr11:72951444-72951605	K562	blood:	n/a	chr11:72951539-72951552
16	BHLHE40	chr11:72948728-72949349	HepG2	liver:	n/a	chr11:72949056-72949065 chr11:72949055-72949064 chr11:72949050-72949071 chr11:72949056-72949065
17	BHLHE40	chr11:72948914-72949186	GM12878	blood:	n/a	chr11:72949056-72949065 chr11:72949055-72949064 chr11:72949050-72949071 chr11:72949056-72949065
18	BHLHE40	chr11:72925596-72925923	GM12878	blood:	n/a	n/a
19	BHLHE40	chr11:72948022-72948171	K562	blood:	n/a	n/a
20	BRCA1	chr11:72953500-72953931	HepG2	liver:	n/a	n/a
21	BRCA1	chr11:72929326-72929353	HepG2	liver:	n/a	n/a
22	BRCA1	chr11:72953450-72953907	H1-hESC	embryonic stem cell:	n/a	n/a
23	CBX3	chr11:72953558-72953994	K562	blood:	n/a	n/a
24	CCNT2	chr11:72929105-72929375	K562	blood:	n/a	chr11:72929335-72929344 chr11:72929309-72929318
25	CEBPB	chr11:72932514-72932622	HepG2	liver:	n/a	n/a
26	CEBPB	chr11:72961070-72961441	ECC-1	luminal epithelium:	n/a	chr11:72961240-72961251
27	CEBPB	chr11:72947944-72948273	A549	lung:	n/a	n/a
28	CEBPB	chr11:72953456-72953995	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr11:72948021-72948280	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr11:72947962-72948137	HepG2	liver:	n/a	n/a
31	CEBPB	chr11:72951359-72951713	ECC-1	luminal epithelium:	n/a	n/a
32	CEBPB	chr11:72957396-72957645	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr11:72961120-72961296	H1-hESC	embryonic stem cell:	n/a	chr11:72961240-72961251
34	CEBPB	chr11:72953655-72953992	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr11:72929143-72929353	HepG2	liver:	n/a	n/a
36	CEBPB	chr11:72961118-72961319	IMR90	lung:	n/a	chr11:72961240-72961251
37	CEBPB	chr11:72961097-72961361	Hela-S3	cervix:	n/a	chr11:72961240-72961251
38	CEBPB	chr11:72929630-72929801	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr11:72948927-72949239	HepG2	liver:	n/a	n/a
40	CEBPB	chr11:72961086-72961398	A549	lung:	n/a	chr11:72961240-72961251
41	CEBPB	chr11:72947956-72948215	IMR90	lung:	n/a	n/a
42	CEBPB	chr11:72951383-72951682	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr11:72951359-72951711	IMR90	lung:	n/a	n/a
44	CEBPB	chr11:72961084-72961401	HepG2	liver:	n/a	chr11:72961240-72961251
45	CHD1	chr11:72953782-72953784	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD1	chr11:72925645-72925798	GM12878	blood:	n/a	n/a
47	CHD2	chr11:72929244-72929255	HepG2	liver:	n/a	n/a
48	CHD2	chr11:72948122-72948137	HepG2	liver:	n/a	n/a
49	CHD2	chr11:72953509-72953791	HepG2	liver:	n/a	n/a
50	CHD2	chr11:72928474-72928581	HepG2	liver:	n/a	n/a

(count:1529 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:72946227-72946277	Hela-S3	cervix:	n/a
2	chr11:72929307-72929357	PrEC	prostate:	n/a
3	chr11:72933282-72933332	HL-60	blood:	n/a
4	chr11:72941203-72941253	HRCEpiC	kidney:	n/a
5	chr11:72946227-72946277	Hela-S3	cervix:	n/a
6	chr11:72929307-72929357	PrEC	prostate:	n/a
7	chr11:72933282-72933332	HL-60	blood:	n/a
8	chr11:72941203-72941253	HRCEpiC	kidney:	n/a
9	chr11:72925852-72925902	BE2_C	brain:	n/a
10	chr11:72929312-72929362	HMEC	breast:	n/a
11	chr11:72929312-72929362	SKMC	muscle:	n/a
12	chr11:72929382-72929432	HCF	heart:	n/a
13	chr11:72929394-72929444	RPTEC	kidney:	n/a
14	chr11:72929844-72929894	Hela-S3	cervix:	n/a
15	chr11:72929170-72929220	K562	blood:	n/a
16	chr11:72929135-72929185	H1-hESC	embryonic stem cell:	embryo
17	chr11:72928926-72928976	HMEC	breast:	n/a
18	chr11:72929368-72929418	HUVEC	blood vessel:	n/a
19	chr11:72943745-72943795	PrEC	prostate:	n/a
20	chr11:72946534-72946584	HCM	heart:	n/a
21	chr11:72939150-72939200	NT2-D1	testis:	n/a
22	chr11:72953953-72954003	AG09319	gingival:	n/a
23	chr11:72929394-72929444	HRCEpiC	kidney:	n/a
24	chr11:72928926-72928976	GM12878	blood:	n/a
25	chr11:72929394-72929444	T-47D	breast:	n/a
26	chr11:72929124-72929174	HRE	kidney:	n/a
27	chr11:72943745-72943795	K562	blood:	n/a
28	chr11:72925852-72925902	Caco-2	colon:	n/a
29	chr11:72953953-72954003	U87	brain:	n/a
30	chr11:72941691-72941741	NHBE	bronchial:	n/a
31	chr11:72929167-72929217	Hela-S3	cervix:	n/a
32	chr11:72946227-72946277	HAEpiC	amniotic membrane:	n/a
33	chr11:72929135-72929185	HCM	heart:	n/a
34	chr11:72929167-72929217	K562	blood:	n/a
35	chr11:72929307-72929357	A549	lung:	n/a
36	chr11:72929054-72929104	T-47D	breast:	n/a
37	chr11:72929368-72929418	HRPEpiC	eye:	n/a
38	chr11:72929054-72929104	HL-60	blood:	n/a
39	chr11:72928926-72928976	ProgFib	skin:	n/a
40	chr11:72929307-72929357	HEEpiC	esophagus:	n/a
41	chr11:72929124-72929174	Hela-S3	cervix:	n/a
42	chr11:72929167-72929217	NT2-D1	testis:	n/a
43	chr11:72946227-72946277	BE2_C	brain:	n/a
44	chr11:72929553-72929603	HRPEpiC	eye:	n/a
45	chr11:72946534-72946584	GM12891	blood:	n/a
46	chr11:72929170-72929220	MCF-7	breast:	n/a
47	chr11:72929983-72930033	IMR90	lung:	fetal
48	chr11:72929167-72929217	GM19239	blood:	n/a
49	chr11:72941203-72941253	SKMC	muscle:	n/a
50	chr11:72929167-72929217	AoSMC	blood vessel:	n/a

(count:85 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:72938389..72940654-chr11:72953845..72956300,2	MCF-7	breast:
2	chr11:72952515..72955647-chr11:72999946..73001920,3	MCF-7	breast:
3	chr11:72939098..72939947-chr11:72947304..72948116,2	MCF-7	breast:
4	chr11:72943180..72944892-chr11:72951598..72954377,2	K562	blood:
5	chr11:72496738..72498123-chr11:72938613..72939675,6	MCF-7	breast:
6	chr11:72931397..72935797-chr11:72938459..72941401,4	K562	blood:
7	chr11:72948658..72950846-chr11:72951631..72953864,2	K562	blood:
8	chr11:72909923..72912508-chr11:72937140..72938650,2	MCF-7	breast:
9	chr11:72935934..72938365-chr11:72952035..72953904,2	K562	blood:
10	chr11:72955205..72958712-chr11:72959687..72962653,3	MCF-7	breast:
11	chr11:72889232..72889777-chr11:72953408..72954073,2	K562	blood:
12	chr11:72943180..72944892-chr11:72951598..72954377,2	K562	blood:
13	chr11:72893830..72894757-chr11:72953798..72954309,2	MCF-7	breast:
14	chr11:72938389..72940654-chr11:72953845..72956300,2	MCF-7	breast:
15	chr11:72929173..72930027-chr11:73000290..73000931,3	MCF-7	breast:
16	chr11:72929084..72930131-chr11:72938648..72939423,5	MCF-7	breast:
17	chr11:72948068..72951441-chr11:72952296..72954651,3	K562	blood:
18	chr11:72394933..72395858-chr11:72953383..72954110,3	K562	blood:
19	chr11:72951072..72954969-chr11:72955033..72959684,5	MCF-7	breast:
20	chr11:72491387..72492889-chr11:72936381..72939114,2	MCF-7	breast:
21	chr11:72936171..72938814-chr11:72941507..72943078,2	K562	blood:
22	chr11:72938578..72939503-chr11:72947565..72948485,4	MCF-7	breast:
23	chr11:72525940..72528822-chr11:72928585..72931110,3	MCF-7	breast:
24	chr11:72941338..72942987-chr11:72945088..72947125,2	K562	blood:
25	chr11:72542052..72543182-chr11:72952910..72954295,8	K562	blood:
26	chr11:72926533..72928562-chr11:72951234..72953963,2	MCF-7	breast:
27	chr11:72904435..72906277-chr11:72938412..72939756,22	MCF-7	breast:
28	chr11:72944490..72946453-chr11:72952891..72955306,2	MCF-7	breast:
29	chr11:72542200..72542976-chr11:72951623..72952347,2	K562	blood:
30	chr11:72935321..72937353-chr11:73087469..73089491,2	K562	blood:
31	chr11:72904985..72905918-chr11:72938897..72939566,2	MCF-7	breast:
32	chr11:72953671..72955860-chr11:72968822..72970580,2	K562	blood:
33	chr11:72939098..72939947-chr11:72947304..72948116,2	MCF-7	breast:
34	chr11:72895927..72897022-chr11:72953325..72954606,11	MCF-7	breast:
35	chr11:72925831..72928740-chr11:73018599..73020225,2	MCF-7	breast:
36	chr11:72956033..72957650-chr11:72958875..72961424,2	K562	blood:
37	chr11:72953739..72954341-chr11:73000494..73001410,2	MCF-7	breast:
38	chr11:72931397..72935797-chr11:72938459..72941401,4	K562	blood:
39	chr11:72492441..72494706-chr11:72945606..72948103,2	MCF-7	breast:
40	chr11:72931797..72934101-chr11:73016797..73019533,2	MCF-7	breast:
41	chr11:72531230..72533948-chr11:72951190..72953012,2	MCF-7	breast:
42	chr11:72896002..72897253-chr11:72947609..72949145,18	MCF-7	breast:
43	chr11:72493156..72495189-chr11:72928478..72930668,3	MCF-7	breast:
44	chr11:72903126..72904098-chr11:72938581..72939787,8	MCF-7	breast:
45	chr11:72929217..72930011-chr11:72953438..72954287,3	MCF-7	breast:
46	chr11:72551043..72553984-chr11:72939996..72942753,2	MCF-7	breast:
47	chr11:72497171..72498123-chr11:72938613..72939618,3	MCF-7	breast:
48	chr11:72635726..72636238-chr11:72953409..72954338,2	K562	blood:
49	chr11:72936171..72938814-chr11:72941507..72943078,2	K562	blood:
50	chr11:72928784..72929703-chr11:72938662..72939521,3	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-P2RY2-1	chr11:72950020-72953380	ENSG00000260401.1
2	lnc-FCHSD2-3	chr11:72929072-72929202	XLOC_009500
3	lnc-P2RY2-1	chr11:72951137-72953380	NONHSAT022817
4	lnc-P2RY6-1	chr11:72964638-72964852	XLOC_009208
5	lnc-P2RY2-4	chr11:72959824-72960043	NONHSAT022818
6	lnc-P2RY2-4	chr11:72960369-72960912	NONHSAT022818

No data

Variant related genes	Relation type
ENSG00000215841	TF binding region
ENSG00000260401	TF binding region
OR8R1P	TF binding region
P2RY2	TF binding region
ENSG00000215841	CpG island
ENSG00000260401	CpG island
OR8R1P	CpG island
P2RY2	CpG island
ENSG00000140443	chromatin interactions
ENSG00000171631	chromatin interactions
ENSG00000168010	chromatin interactions
ENSG00000186635	chromatin interactions
ENSG00000054967	chromatin interactions
ENSG00000265064	chromatin interactions
ENSG00000175591	chromatin interactions
ENSG00000110237	chromatin interactions
ENSG00000256347	chromatin interactions
ENSG00000215841	chromatin interactions
ENSG00000214530	chromatin interactions
ENSG00000137478	chromatin interactions
ENSG00000260401	chromatin interactions

Extended variants
information (count: 1624 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1624 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562175857	chr11:72925347-72925348	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs563493928	chr11:72925376-72925377	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs186906772	chr11:72925395-72925396	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs542951806	chr11:72925424-72925425	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs371065858	chr11:72925432-72925433	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs146193477	chr11:72925433-72925434	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs148400845	chr11:72925452-72925453	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs142034515	chr11:72925468-72925469	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs551780683	chr11:72925485-72925486	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs576222556	chr11:72925489-72925490	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs543724587	chr11:72925512-72925513	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs531050137	chr11:72925568-72925569	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs550734977	chr11:72925620-72925621	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs567524575	chr11:72925625-72925626	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs367774963	chr11:72925680-72925681	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs536510402	chr11:72925709-72925710	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs553243866	chr11:72925744-72925745	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs567202956	chr11:72925748-72925749	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs115236152	chr11:72925749-72925750	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs557747780	chr11:72925763-72925764	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs73536965	chr11:72925768-72925769	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543544035	chr11:72925791-72925792	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs376026754	chr11:72925838-72925839	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs190691800	chr11:72925888-72925889	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs573869849	chr11:72925929-72925930	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs542888480	chr11:72925961-72925962	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs372223610	chr11:72925964-72925965	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs368570328	chr11:72925965-72925966	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs372842149	chr11:72926008-72926009	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs373558761	chr11:72926017-72926018	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs528419637	chr11:72926053-72926054	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs568064615	chr11:72926056-72926057	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs375639670	chr11:72926063-72926064	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs530867743	chr11:72926107-72926108	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs181517302	chr11:72926169-72926170	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs368405240	chr11:72926194-72926195	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs1628464	chr11:72926201-72926202	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530231199	chr11:72926245-72926246	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs1613420	chr11:72926307-72926308	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs567016734	chr11:72926367-72926368	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs539338749	chr11:72926381-72926382	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs368808520	chr11:72926406-72926407	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs535499537	chr11:72926498-72926499	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs557420995	chr11:72926515-72926516	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs571229796	chr11:72926528-72926529	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs541038866	chr11:72926609-72926610	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs527273794	chr11:72926629-72926630	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs537083778	chr11:72926630-72926631	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs186453428	chr11:72926631-72926632	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs573808524	chr11:72926661-72926662	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1312 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72913000-72928200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:72916800-72928400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:72918200-72925600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:72918800-72928200	Weak transcription	A549	lung
5	chr11:72921600-72926600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr11:72922000-72928000	Weak transcription	Fetal Intestine Large	intestine
7	chr11:72922400-72925400	Weak transcription	Esophagus	oesophagus
8	chr11:72923600-72925400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr11:72923600-72925800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr11:72923800-72925800	Enhancers	Psoas Muscle	Psoas
11	chr11:72923800-72926000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:72923800-72926400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr11:72923800-72927800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr11:72924000-72925400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:72924000-72925600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:72924000-72925600	Enhancers	Brain Substantia Nigra	brain
17	chr11:72924000-72926000	Enhancers	Fetal Muscle Leg	muscle
18	chr11:72924000-72928200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr11:72924000-72928400	Weak transcription	K562	blood
20	chr11:72924200-72925800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:72924200-72925800	Enhancers	Right Atrium	heart
22	chr11:72924200-72928000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:72924400-72925800	Enhancers	Brain Hippocampus Middle	brain
24	chr11:72924400-72925800	Enhancers	Fetal Muscle Trunk	muscle
25	chr11:72924400-72927800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:72924600-72925600	Enhancers	Fetal Thymus	thymus
27	chr11:72924600-72926000	Enhancers	Primary hematopoietic stem cells	blood
28	chr11:72924600-72927000	Enhancers	GM12878-XiMat	blood
29	chr11:72924600-72928800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:72924800-72925800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr11:72925000-72925400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:72925000-72925800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:72925000-72925800	Enhancers	NHEK	skin
34	chr11:72925000-72926800	Enhancers	Spleen	Spleen
35	chr11:72925000-72928200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:72925000-72928400	Weak transcription	Fetal Lung	lung
37	chr11:72925200-72925600	Weak transcription	Left Ventricle	heart
38	chr11:72925200-72925600	Weak transcription	Right Ventricle	heart
39	chr11:72925200-72925800	Enhancers	HMEC	breast
40	chr11:72925200-72926600	Enhancers	Primary B cells from peripheral blood	blood
41	chr11:72925200-72927000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:72925200-72927800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:72925200-72927800	Enhancers	Primary B cells from cord blood	blood
44	chr11:72925200-72928200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:72925400-72925600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:72925400-72925600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:72925400-72925600	Weak transcription	Fetal Intestine Small	intestine
48	chr11:72925400-72925800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:72925400-72928400	Enhancers	Esophagus	oesophagus
50	chr11:72925400-72929200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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