Variant report

Variant	esv3345003
Chromosome Location	chr11:46353526-46356074
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	CEBPB	chr11:46355053-46355107	H1-hESC	embryonic stem cell:	n/a	n/a
2	CREB1	chr11:46354608-46355342	H1-hESC	embryonic stem cell:	n/a	n/a
3	CREB1	chr11:46354889-46355395	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTBP2	chr11:46353813-46354480	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr11:46353940-46354436	H1-hESC	embryonic stem cell:	n/a	chr11:46354244-46354253 chr11:46354418-46354427
6	EBF1	chr11:46354076-46354319	GM12878	blood:	n/a	n/a
7	EGR1	chr11:46354056-46354247	GM12878	blood:	n/a	chr11:46354135-46354145 chr11:46354134-46354147 chr11:46354133-46354147 chr11:46354135-46354145 chr11:46354135-46354144 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354131-46354145 chr11:46354133-46354148
8	EGR1	chr11:46353962-46354360	K562	blood:	n/a	chr11:46354135-46354145 chr11:46354134-46354147 chr11:46354133-46354147 chr11:46354135-46354145 chr11:46354135-46354144 chr11:46354134-46354147 chr11:46354292-46354305 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354131-46354145 chr11:46354133-46354148
9	EGR1	chr11:46353926-46354396	H1-hESC	embryonic stem cell:	n/a	chr11:46354135-46354145 chr11:46354134-46354147 chr11:46354133-46354147 chr11:46354135-46354145 chr11:46354135-46354144 chr11:46354134-46354147 chr11:46354292-46354305 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354131-46354145 chr11:46354133-46354148
10	EGR1	chr11:46353872-46354380	ECC-1	luminal epithelium:	n/a	chr11:46354135-46354145 chr11:46354134-46354147 chr11:46354133-46354147 chr11:46354135-46354145 chr11:46354135-46354144 chr11:46354134-46354147 chr11:46354292-46354305 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354131-46354145 chr11:46354133-46354148
11	EGR1	chr11:46353960-46354340	K562	blood:	n/a	chr11:46354135-46354145 chr11:46354134-46354147 chr11:46354133-46354147 chr11:46354135-46354145 chr11:46354135-46354144 chr11:46354134-46354147 chr11:46354292-46354305 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354131-46354145 chr11:46354133-46354148
12	EGR1	chr11:46353970-46354331	ECC-1	luminal epithelium:	n/a	chr11:46354135-46354145 chr11:46354134-46354147 chr11:46354133-46354147 chr11:46354135-46354145 chr11:46354135-46354144 chr11:46354134-46354147 chr11:46354292-46354305 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354131-46354145 chr11:46354133-46354148
13	EGR1	chr11:46354052-46354253	GM12878	blood:	n/a	chr11:46354135-46354145 chr11:46354134-46354147 chr11:46354133-46354147 chr11:46354135-46354145 chr11:46354135-46354144 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354131-46354145 chr11:46354133-46354148
14	ELF1	chr11:46355402-46355776	GM12878	blood:	n/a	n/a
15	GABPA	chr11:46354551-46355176	H1-hESC	embryonic stem cell:	n/a	chr11:46354601-46354610 chr11:46354628-46354637
16	HMGN3	chr11:46354610-46354687	K562	blood:	n/a	n/a
17	JUND	chr11:46355020-46355348	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr11:46354028-46354209	K562	blood:	n/a	n/a
19	MAX	chr11:46353944-46355326	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAZ	chr11:46354148-46354330	K562	blood:	n/a	n/a
21	MAZ	chr11:46354415-46354484	HepG2	liver:	n/a	n/a
22	MXI1	chr11:46353985-46354285	H1-hESC	embryonic stem cell:	n/a	n/a
23	MXI1	chr11:46354798-46354912	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr11:46354069-46354183	H1-hESC	embryonic stem cell:	n/a	n/a
25	PBX3	chr11:46354093-46354363	GM12878	blood:	n/a	chr11:46354235-46354244 chr11:46354257-46354266 chr11:46354112-46354132
26	PBX3	chr11:46353945-46354569	SK-N-SH	brain:	n/a	chr11:46354235-46354244 chr11:46354257-46354266 chr11:46354112-46354132
27	POLR2A	chr11:46354640-46354716	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:46353944-46355483	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr11:46354923-46355083	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:46355016-46355032	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:46353935-46355419	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr11:46355046-46355080	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr11:46355673-46355694	K562	blood:	n/a	n/a
34	POLR2A	chr11:46355153-46355201	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr11:46354660-46355079	H1-hESC	embryonic stem cell:	n/a	chr11:46355053-46355065
36	REST	chr11:46353902-46355520	H1-neurons	neurons:	n/a	chr11:46354643-46354656 chr11:46354637-46354650
37	SIN3A	chr11:46353932-46355222	H1-hESC	embryonic stem cell:	n/a	chr11:46354411-46354422 chr11:46355132-46355141 chr11:46354643-46354656
38	SIN3AK20	chr11:46353922-46354377	H1-hESC	embryonic stem cell:	n/a	n/a
39	SPI1	chr11:46355172-46355579	HL-60	blood:	n/a	n/a
40	TAF1	chr11:46354907-46355408	H1-neurons	neurons:	n/a	n/a
41	TAF1	chr11:46354843-46355246	H1-hESC	embryonic stem cell:	n/a	n/a
42	TBP	chr11:46354728-46355192	H1-hESC	embryonic stem cell:	n/a	n/a
43	TCF12	chr11:46354099-46354350	GM12878	blood:	n/a	chr11:46354154-46354161
44	TCF3	chr11:46354112-46354490	GM12878	blood:	n/a	n/a
45	TEAD4	chr11:46353988-46354366	H1-hESC	embryonic stem cell:	n/a	n/a
46	TEAD4	chr11:46353888-46354367	H1-hESC	embryonic stem cell:	n/a	n/a
47	YY1	chr11:46354622-46355030	H1-hESC	embryonic stem cell:	n/a	chr11:46354795-46354809
48	ZBTB7A	chr11:46354378-46354484	HepG2	liver:	n/a	n/a
49	ZBTB7A	chr11:46353986-46354442	K562	blood:	n/a	chr11:46354306-46354317
50	ZBTB7A	chr11:46354489-46354626	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:46354567-46354617	Jurkat	blood:	n/a
2	chr11:46354635-46354685	PFSK-1	brain:	n/a
3	chr11:46354567-46354617	Jurkat	blood:	n/a
4	chr11:46354635-46354685	PFSK-1	brain:	n/a
5	chr11:46354565-46354615	SK-N-SH_RA	brain:	n/a
6	chr11:46354997-46355047	AG10803	skin:	n/a
7	chr11:46354567-46354617	AoSMC	blood vessel:	n/a
8	chr11:46354574-46354624	PrEC	prostate:	n/a
9	chr11:46354296-46354346	GM12878	blood:	n/a
10	chr11:46354005-46354055	HMEC	breast:	n/a
11	chr11:46354997-46355047	HCF	heart:	n/a
12	chr11:46354292-46354342	Caco-2	colon:	n/a
13	chr11:46354630-46354680	AG09319	gingival:	n/a
14	chr11:46354567-46354617	NHDF-neo	bronchial:	n/a
15	chr11:46354562-46354612	SK-N-SH	brain:	n/a
16	chr11:46354574-46354624	Hepatocyte	liver:	n/a
17	chr11:46354635-46354685	HNPCEpiC	eye:	n/a
18	chr11:46354101-46354151	K562	blood:	n/a
19	chr11:46354565-46354615	LNCaP	prostate:	n/a
20	chr11:46354997-46355047	ProgFib	skin:	n/a
21	chr11:46354574-46354624	NB4	blood:	n/a
22	chr11:46354635-46354685	IMR90	lung:	fetal
23	chr11:46354574-46354624	HIPEpiC	eye:	n/a
24	chr11:46354567-46354617	K562	blood:	n/a
25	chr11:46355137-46355187	RPTEC	kidney:	n/a
26	chr11:46354567-46354617	PANC-1	pancreas:	n/a
27	chr11:46354997-46355047	Hepatocyte	liver:	n/a
28	chr11:46355137-46355187	SK-N-MC	brain:	n/a
29	chr11:46354635-46354685	GM12891	blood:	n/a
30	chr11:46354562-46354612	Hepatocyte	liver:	n/a
31	chr11:46354005-46354055	GM06990	blood:	n/a
32	chr11:46354101-46354151	HepG2	liver:	n/a
33	chr11:46354565-46354615	GM19239	blood:	n/a
34	chr11:46354005-46354055	BJ	skin:	n/a
35	chr11:46354296-46354346	SK-N-MC	brain:	n/a
36	chr11:46354296-46354346	AG10803	skin:	n/a
37	chr11:46354101-46354151	SK-N-MC	brain:	n/a
38	chr11:46354101-46354151	RPTEC	kidney:	n/a
39	chr11:46354567-46354617	HCF	heart:	n/a
40	chr11:46355283-46355333	GM12892	blood:	n/a
41	chr11:46353622-46353672	AG09309	skin:	n/a
42	chr11:46354630-46354680	ovcar-3	ovarian:	n/a
43	chr11:46354630-46354680	NHDF-neo	bronchial:	n/a
44	chr11:46354565-46354615	HCF	heart:	n/a
45	chr11:46354567-46354617	HL-60	blood:	n/a
46	chr11:46355283-46355333	K562	blood:	n/a
47	chr11:46354630-46354680	NH-A	brain:	n/a
48	chr11:46354562-46354612	Jurkat	blood:	n/a
49	chr11:46355283-46355333	GM12878	blood:	n/a
50	chr11:46354567-46354617	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:46328323..46330556-chr11:46354487..46356134,2	K562	blood:
2	chr11:46334610..46337424-chr11:46352781..46354879,2	K562	blood:
3	chr11:46333947..46338346-chr11:46350812..46353787,3	MCF-7	breast:
4	chr11:46352485..46355160-chr11:46382549..46384847,2	MCF-7	breast:

Variant related genes	Relation type
DGKZ	TF binding region
DGKZ	CpG island
ENSG00000149091	chromatin interactions
ENSG00000157613	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534417354	chr11:46353528-46353529	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs73464069	chr11:46353623-46353624	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs375322268	chr11:46353678-46353679	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs72910071	chr11:46353679-46353680	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538235730	chr11:46353683-46353684	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs558559193	chr11:46353684-46353685	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs72910073	chr11:46353751-46353752	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs116260374	chr11:46353766-46353767	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs375210909	chr11:46353780-46353781	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs145961383	chr11:46353781-46353782	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs537111881	chr11:46353806-46353807	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs192510528	chr11:46353829-46353830	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs184435352	chr11:46353926-46353927	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs577299281	chr11:46353933-46353934	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs545866136	chr11:46354006-46354007	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs189467762	chr11:46354015-46354016	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs181821901	chr11:46354019-46354020	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs186152661	chr11:46354029-46354030	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs139856284	chr11:46354052-46354053	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs536444788	chr11:46354088-46354089	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs553668076	chr11:46354133-46354134	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs527853349	chr11:46354137-46354138	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs547998767	chr11:46354216-46354217	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs75540014	chr11:46354227-46354228	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs142983687	chr11:46354260-46354261	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs552303108	chr11:46354288-46354289	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs71451647	chr11:46354370-46354371	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs111781947	chr11:46354397-46354398	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs568829767	chr11:46354593-46354594	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs537855631	chr11:46354599-46354600	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs554876380	chr11:46354609-46354610	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs371183249	chr11:46354633-46354634	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs574702498	chr11:46354705-46354706	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs533730571	chr11:46354832-46354833	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs545413283	chr11:46354974-46354975	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs56044090	chr11:46355015-46355016	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369730059	chr11:46355030-46355031	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs111324926	chr11:46355072-46355073	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs117762930	chr11:46355108-46355109	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376682693	chr11:46355170-46355171	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs368592676	chr11:46355208-46355209	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs114388424	chr11:46355228-46355229	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs371378063	chr11:46355242-46355243	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs78168172	chr11:46355257-46355258	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs575996216	chr11:46355328-46355329	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs558499695	chr11:46355332-46355333	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs575346846	chr11:46355333-46355334	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs368198007	chr11:46355349-46355350	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs373118973	chr11:46355403-46355404	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs74406600	chr11:46355478-46355479	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46343200-46353800	Weak transcription	Pancreas	Pancrea
2	chr11:46344000-46354000	Weak transcription	Gastric	stomach
3	chr11:46349800-46357400	Weak transcription	Hela-S3	cervix
4	chr11:46350800-46353600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr11:46350800-46353800	Enhancers	Fetal Thymus	thymus
6	chr11:46351200-46353600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:46351200-46354000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:46351200-46354000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:46351200-46354000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:46351200-46354000	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr11:46351200-46354200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr11:46351400-46353800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr11:46351400-46354000	Enhancers	Primary hematopoietic stem cells	blood
14	chr11:46351400-46354000	Enhancers	Thymus	Thymus
15	chr11:46351600-46353600	Enhancers	Placenta	Placenta
16	chr11:46351600-46353800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr11:46351600-46353800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
18	chr11:46351600-46354000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
19	chr11:46351600-46354200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr11:46351600-46354400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:46351800-46353600	Bivalent Enhancer	Fetal Kidney	kidney
22	chr11:46351800-46354000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr11:46351800-46354000	Bivalent Enhancer	K562	blood
24	chr11:46351800-46354400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr11:46352000-46354000	Enhancers	Right Ventricle	heart
26	chr11:46352000-46354200	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr11:46352200-46354000	Enhancers	Right Atrium	heart
28	chr11:46352200-46354200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr11:46352200-46354400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr11:46352200-46354400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr11:46352400-46354200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr11:46352400-46354200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
33	chr11:46352400-46354400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:46352400-46354400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:46352600-46353600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:46352600-46353600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr11:46352600-46353800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr11:46352600-46353800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:46352600-46354000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:46352600-46354000	Weak transcription	Ovary	ovary
41	chr11:46352600-46354200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:46352800-46353600	Enhancers	Dnd41	blood
43	chr11:46352800-46354000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:46353000-46353800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:46353000-46354000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:46353000-46354000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:46353000-46354200	Enhancers	Lung	lung
48	chr11:46353200-46353600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:46353200-46353800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:46353200-46354000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain

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