Variant report

Variant	esv3321581
Chromosome Location	chr11:65552901-65555749
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	BACH1	chr11:65555221-65556084	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr11:65554750-65554957	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr11:65553697-65554118	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTBP2	chr11:65555347-65556113	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr11:65553815-65554426	H1-hESC	embryonic stem cell:	n/a	chr11:65554397-65554406 chr11:65553982-65553991 chr11:65554032-65554044 chr11:65553984-65553994
6	E2F6	chr11:65555126-65555926	H1-hESC	embryonic stem cell:	n/a	chr11:65555196-65555205 chr11:65555899-65555908 chr11:65555197-65555212 chr11:65555353-65555362 chr11:65555353-65555365
7	E2F6	chr11:65553549-65554277	H1-hESC	embryonic stem cell:	n/a	chr11:65553982-65553991 chr11:65554032-65554044 chr11:65553984-65553994
8	E2F6	chr11:65554479-65555892	H1-hESC	embryonic stem cell:	n/a	chr11:65554555-65554564 chr11:65555196-65555205 chr11:65555197-65555212 chr11:65554553-65554563 chr11:65555353-65555362 chr11:65555353-65555365 chr11:65554603-65554612
9	EGR1	chr11:65555689-65556106	H1-hESC	embryonic stem cell:	n/a	chr11:65555877-65555892 chr11:65555899-65555909 chr11:65555824-65555837 chr11:65555894-65555907
10	ELF1	chr11:65554606-65554971	GM12878	blood:	n/a	n/a
11	ELF1	chr11:65554103-65555120	MCF-7	breast:	n/a	chr11:65554979-65554988 chr11:65554230-65554242 chr11:65554468-65554480 chr11:65554165-65554177
12	ELK1	chr11:65553534-65553562	GM12878	blood:	n/a	n/a
13	EP300	chr11:65553908-65554430	T-47D	breast:	n/a	chr11:65554230-65554239
14	FOXA1	chr11:65554283-65554527	T-47D	breast:	n/a	n/a
15	GABPA	chr11:65555252-65555979	H1-hESC	embryonic stem cell:	n/a	chr11:65555353-65555362 chr11:65555899-65555908
16	GATA3	chr11:65554177-65554696	T-47D	breast:	n/a	n/a
17	GATA3	chr11:65553847-65554829	MCF-7	breast:	n/a	chr11:65553964-65553972
18	GATA3	chr11:65553720-65554930	MCF-7	breast:	n/a	chr11:65553964-65553972
19	HA-E2F1	chr11:65553705-65554275	MCF-7	breast:	n/a	chr11:65553982-65553991 chr11:65554032-65554044 chr11:65553984-65553994
20	HDAC2	chr11:65553909-65554954	MCF-7	breast:	n/a	n/a
21	HDAC2	chr11:65554205-65554433	H1-hESC	embryonic stem cell:	n/a	n/a
22	HDAC2	chr11:65553811-65555066	MCF-7	breast:	n/a	n/a
23	HNF4A	chr11:65555747-65556072	HepG2	liver:	n/a	chr11:65555976-65555994 chr11:65555970-65555985 chr11:65555979-65555992 chr11:65555979-65555991 chr11:65555970-65555985 chr11:65555970-65555985 chr11:65555978-65555992 chr11:65555977-65555992 chr11:65555979-65555991 chr11:65555978-65555991 chr11:65555979-65555992 chr11:65555979-65555991 chr11:65555979-65555992 chr11:65555971-65555985
24	JUN	chr11:65554756-65554759	H1-hESC	embryonic stem cell:	n/a	n/a
25	JUN	chr11:65553989-65554033	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr11:65553717-65556062	H1-hESC	embryonic stem cell:	n/a	chr11:65554464-65554474 chr11:65555943-65555953 chr11:65555243-65555253 chr11:65554157-65554167 chr11:65555486-65555495
27	MAX	chr11:65554692-65555445	A549	lung:	n/a	chr11:65555243-65555253
28	MAX	chr11:65553720-65554983	MCF-7	breast:	n/a	chr11:65554464-65554474 chr11:65554157-65554167
29	MAX	chr11:65553701-65555122	MCF-7	breast:	n/a	chr11:65554464-65554474 chr11:65554157-65554167
30	MAX	chr11:65554758-65555547	H1-hESC	embryonic stem cell:	n/a	chr11:65555243-65555253 chr11:65555486-65555495
31	MAX	chr11:65553761-65555125	ECC-1	luminal epithelium:	n/a	chr11:65554464-65554474 chr11:65554157-65554167
32	MAX	chr11:65553767-65555136	ECC-1	luminal epithelium:	n/a	chr11:65554464-65554474 chr11:65554157-65554167
33	MYC	chr11:65554313-65554434	MCF-7	breast:	n/a	n/a
34	MYC	chr11:65554714-65554812	H1-hESC	embryonic stem cell:	n/a	n/a
35	MYC	chr11:65554098-65554183	MCF-7	breast:	n/a	chr11:65554157-65554167
36	MYC	chr11:65554242-65554743	MCF-7	breast:	n/a	chr11:65554464-65554474
37	MYC	chr11:65554854-65554856	MCF-7	breast:	n/a	n/a
38	MYC	chr11:65554862-65554980	MCF-7	breast:	n/a	n/a
39	MYC	chr11:65555300-65555389	H1-hESC	embryonic stem cell:	n/a	n/a
40	NFIC	chr11:65553857-65554853	ECC-1	luminal epithelium:	n/a	n/a
41	NR2F2	chr11:65555413-65556639	MCF-7	breast:	n/a	chr11:65555975-65555990
42	NR2F2	chr11:65553808-65554765	MCF-7	breast:	n/a	n/a
43	NR2F2	chr11:65553895-65554609	MCF-7	breast:	n/a	n/a
44	NR2F2	chr11:65555633-65556197	MCF-7	breast:	n/a	chr11:65555975-65555990
45	NRF1	chr11:65554231-65554535	H1-hESC	embryonic stem cell:	n/a	chr11:65554396-65554407 chr11:65554398-65554407 chr11:65554393-65554407
46	PAX5	chr11:65555168-65555432	GM12892	blood:	n/a	chr11:65555242-65555260
47	PML	chr11:65554331-65554836	MCF-7	breast:	n/a	n/a
48	POLR2A	chr11:65554447-65554766	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr11:65555418-65556203	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr11:65554469-65554699	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65553119-65553169	HL-60	blood:	n/a
2	chr11:65553119-65553169	AoSMC	blood vessel:	n/a
3	chr11:65554356-65554406	RPTEC	kidney:	n/a
4	chr11:65553761-65553811	HEK293	kidney:	embryo
5	chr11:65554407-65554457	SAEC	small airway:	n/a
6	chr11:65554404-65554454	ECC-1	luminal epithelium:	n/a
7	chr11:65554404-65554454	NHBE	bronchial:	n/a
8	chr11:65554404-65554454	SAEC	small airway:	n/a
9	chr11:65554398-65554448	RPTEC	kidney:	n/a
10	chr11:65554928-65554978	HEEpiC	esophagus:	n/a
11	chr11:65555418-65555468	GM12892	blood:	n/a
12	chr11:65554407-65554457	NB4	blood:	n/a
13	chr11:65554042-65554092	T-47D	breast:	n/a
14	chr11:65554398-65554448	AG09309	skin:	n/a
15	chr11:65554398-65554448	NB4	blood:	n/a
16	chr11:65554407-65554457	AG09319	gingival:	n/a
17	chr11:65554175-65554225	HUVEC	blood vessel:	n/a
18	chr11:65554356-65554406	Hepatocyte	liver:	n/a
19	chr11:65554678-65554728	SK-N-MC	brain:	n/a
20	chr11:65554410-65554460	Hela-S3	cervix:	n/a
21	chr11:65554398-65554448	CMK	blood:	n/a
22	chr11:65554385-65554435	HMEC	breast:	n/a
23	chr11:65555418-65555468	SK-N-MC	brain:	n/a
24	chr11:65554678-65554728	AG09309	skin:	n/a
25	chr11:65554042-65554092	NHDF-neo	bronchial:	n/a
26	chr11:65554356-65554406	HAEpiC	amniotic membrane:	n/a
27	chr11:65553761-65553811	HEEpiC	esophagus:	n/a
28	chr11:65554928-65554978	HEK293	kidney:	embryo
29	chr11:65554928-65554978	SK-N-MC	brain:	n/a
30	chr11:65554407-65554457	ProgFib	skin:	n/a
31	chr11:65554404-65554454	GM12892	blood:	n/a
32	chr11:65553660-65553710	AG09319	gingival:	n/a
33	chr11:65553660-65553710	Hela-S3	cervix:	n/a
34	chr11:65554356-65554406	PANC-1	pancreas:	n/a
35	chr11:65554398-65554448	GM12891	blood:	n/a
36	chr11:65554410-65554460	PrEC	prostate:	n/a
37	chr11:65553119-65553169	HCM	heart:	n/a
38	chr11:65554398-65554448	MCF-7	breast:	n/a
39	chr11:65554678-65554728	AG09319	gingival:	n/a
40	chr11:65555418-65555468	HEK293	kidney:	embryo
41	chr11:65554928-65554978	GM19239	blood:	n/a
42	chr11:65554356-65554406	HCPEpiC	choroid plexus:	n/a
43	chr11:65554356-65554406	IMR90	lung:	fetal
44	chr11:65554042-65554092	GM19239	blood:	n/a
45	chr11:65553660-65553710	ovcar-3	ovarian:	n/a
46	chr11:65555418-65555468	NHDF-neo	bronchial:	n/a
47	chr11:65555418-65555468	HPAEpiC	pulmonary alveolar:	n/a
48	chr11:65554410-65554460	BJ	skin:	n/a
49	chr11:65554398-65554448	HEEpiC	esophagus:	n/a
50	chr11:65555418-65555468	PANC-1	pancreas:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65546169..65552016-chr11:65555022..65558350,9	K562	blood:
2	chr11:65544951..65562337-chr11:65623093..65630859,34	MCF-7	breast:
3	chr11:65381719..65383349-chr11:65554196..65557028,2	MCF-7	breast:
4	chr11:65551696..65553777-chr11:65562013..65564216,2	K562	blood:
5	chr11:65552272..65555849-chr11:65684886..65688039,3	MCF-7	breast:
6	chr11:65381741..65384368-chr11:65551453..65554074,4	MCF-7	breast:
7	chr11:65551999..65553570-chr11:65651722..65654050,2	K562	blood:
8	chr11:65552279..65555050-chr11:65558664..65561977,4	K562	blood:
9	chr11:65551697..65554555-chr11:65655334..65658299,2	K562	blood:
10	chr11:65549963..65553451-chr11:65657304..65660070,4	K562	blood:
11	chr11:65479523..65484500-chr11:65551483..65556601,5	MCF-7	breast:
12	chr11:65553472..65554428-chr11:65585631..65586383,2	MCF-7	breast:
13	chr11:65545830..65548787-chr11:65550897..65553141,2	K562	blood:
14	chr11:65552282..65556398-chr11:65623209..65626538,5	MCF-7	breast:
15	chr11:65549748..65553562-chr11:65663861..65667886,4	K562	blood:
16	chr11:65545987..65548666-chr11:65554230..65557097,2	K562	blood:
17	chr11:65428991..65430722-chr11:65553054..65555889,2	MCF-7	breast:
18	chr11:65553824..65556845-chr11:65623477..65626342,3	K562	blood:
19	chr11:65338114..65341460-chr11:65551554..65554469,3	MCF-7	breast:

Variant related genes	Relation type
OVOL1	TF binding region
AP5B1	TF binding region
OVOL1	CpG island
AP5B1	CpG island
ENSG00000175550	chromatin interactions
ENSG00000254470	chromatin interactions
ENSG00000173465	chromatin interactions
ENSG00000172500	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000172732	chromatin interactions
ENSG00000173327	chromatin interactions
ENSG00000172818	chromatin interactions
ENSG00000172977	chromatin interactions
ENSG00000197136	chromatin interactions
ENSG00000175602	chromatin interactions
ENSG00000175827	chromatin interactions
ENSG00000176973	chromatin interactions
ENSG00000173039	chromatin interactions
ENSG00000175573	chromatin interactions

Extended variants
information (count: 85 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146009378	chr11:65552906-65552907	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs186902066	chr11:65552939-65552940	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs499955	chr11:65553013-65553014	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs372912595	chr11:65553054-65553055	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs191194544	chr11:65553130-65553131	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
6	rs563009031	chr11:65553233-65553234	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs543523095	chr11:65553238-65553239	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs377273236	chr11:65553303-65553304	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs36008241	chr11:65553306-65553307	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs545148655	chr11:65553338-65553339	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs138711529	chr11:65553374-65553375	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs116626837	chr11:65553423-65553424	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs12287832	chr11:65553492-65553493	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs373160593	chr11:65553545-65553546	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs547767785	chr11:65553582-65553583	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs561365071	chr11:65553601-65553602	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs530029579	chr11:65553702-65553703	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs550315741	chr11:65553710-65553711	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs570139052	chr11:65553724-65553725	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs538841539	chr11:65553751-65553752	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs182800185	chr11:65553766-65553767	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs565872507	chr11:65553810-65553811	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs534964561	chr11:65553851-65553852	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs530190416	chr11:65553854-65553855	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs116284154	chr11:65553864-65553865	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs574388775	chr11:65553874-65553875	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs536614769	chr11:65553951-65553952	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs76840700	chr11:65553954-65553955	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs576487441	chr11:65554024-65554025	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs573766130	chr11:65554033-65554034	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs565182955	chr11:65554075-65554076	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs11227301	chr11:65554080-65554081	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs559684317	chr11:65554142-65554143	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs541745515	chr11:65554174-65554175	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs561390938	chr11:65554259-65554260	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs530132264	chr11:65554313-65554314	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs550152840	chr11:65554370-65554371	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs71462353	chr11:65554463-65554464	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs563782967	chr11:65554499-65554500	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs11227302	chr11:65554502-65554503	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs118057726	chr11:65554597-65554598	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs61895681	chr11:65554611-65554612	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs534483277	chr11:65554620-65554621	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs374781811	chr11:65554672-65554673	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs10896044	chr11:65554680-65554681	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs568217914	chr11:65554689-65554690	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs76185565	chr11:65554710-65554711	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs556576940	chr11:65554731-65554732	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs570109146	chr11:65554741-65554742	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs370761293	chr11:65554749-65554750	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	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
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65548600-65553400	Weak transcription	Gastric	stomach
2	chr11:65549000-65553000	Enhancers	Placenta	Placenta
3	chr11:65549200-65554200	Weak transcription	Right Atrium	heart
4	chr11:65549400-65553000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:65549600-65553000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:65549600-65553400	Weak transcription	Colonic Mucosa	Colon
7	chr11:65549600-65553400	Weak transcription	Pancreas	Pancrea
8	chr11:65550800-65553200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:65551200-65553400	Bivalent Enhancer	Thymus	Thymus
10	chr11:65551200-65555600	Bivalent Enhancer	Fetal Thymus	thymus
11	chr11:65551400-65553400	Enhancers	Esophagus	oesophagus
12	chr11:65552000-65553800	Weak transcription	NHEK	skin
13	chr11:65552200-65553000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:65552200-65553800	Weak transcription	HMEC	breast
15	chr11:65552400-65553000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:65552400-65553400	Enhancers	Duodenum Mucosa	Duodenum
17	chr11:65552600-65553200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr11:65552600-65553400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:65552600-65553800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:65552600-65553800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
21	chr11:65552600-65554000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr11:65552800-65553000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr11:65552800-65553000	Bivalent Enhancer	Fetal Intestine Small	intestine
24	chr11:65552800-65553400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr11:65552800-65553400	Bivalent Enhancer	HepG2	liver
26	chr11:65552800-65553600	Bivalent Enhancer	Primary T cells from cord blood	blood
27	chr11:65552800-65553600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr11:65552800-65553600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
29	chr11:65552800-65553800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:65552800-65553800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
31	chr11:65552800-65554000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
32	chr11:65552800-65554000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr11:65552800-65554600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
34	chr11:65553000-65553200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
35	chr11:65553000-65553200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
36	chr11:65553000-65553200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
37	chr11:65553000-65553200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:65553000-65553200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
39	chr11:65553000-65553600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chr11:65553000-65553600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr11:65553000-65553600	Bivalent Enhancer	Placenta	Placenta
42	chr11:65553000-65553600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
43	chr11:65553000-65553600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr11:65553000-65553800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr11:65553000-65554200	Bivalent Enhancer	GM12878-XiMat	blood
46	chr11:65553200-65553400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:65553200-65553400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
48	chr11:65553200-65553400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:65553200-65553600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
50	chr11:65553200-65553600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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