Variant report

Variant	esv3339019
Chromosome Location	chr11:48810266-48939864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2519)
CpG islands
(count:793)
Chromatin interactive
region (count:4)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2519 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:48880376-48880748	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:48895975-48896341	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:48892892-48893269	HepG2	liver:	n/a	n/a
4	ATF1	chr11:48892890-48893270	K562	blood:	n/a	n/a
5	ATF1	chr11:48859189-48859770	K562	blood:	n/a	n/a
6	ATF1	chr11:48867583-48867993	K562	blood:	n/a	n/a
7	ATF1	chr11:48883351-48883720	K562	blood:	n/a	n/a
8	ATF1	chr11:48880374-48880748	K562	blood:	n/a	n/a
9	ATF1	chr11:48845364-48845733	K562	blood:	n/a	n/a
10	ATF1	chr11:48849264-48849333	K562	blood:	n/a	n/a
11	ATF1	chr11:48895825-48896343	K562	blood:	n/a	n/a
12	ATF1	chr11:48896850-48897050	K562	blood:	n/a	n/a
13	ATF3	chr11:48845439-48845653	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF3	chr11:48892858-48893151	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr11:48881669-48882080	K562	blood:	n/a	n/a
16	BACH1	chr11:48814467-48814498	K562	blood:	n/a	n/a
17	BATF	chr11:48844167-48844436	GM12878	blood:	n/a	n/a
18	BATF	chr11:48892880-48893156	GM12878	blood:	n/a	n/a
19	BATF	chr11:48842846-48843034	GM12878	blood:	n/a	n/a
20	BATF	chr11:48867677-48867900	GM12878	blood:	n/a	n/a
21	BATF	chr11:48895950-48896265	GM12878	blood:	n/a	n/a
22	BATF	chr11:48934428-48934662	GM12878	blood:	n/a	n/a
23	BATF	chr11:48931968-48932274	GM12878	blood:	n/a	n/a
24	BATF	chr11:48887996-48888565	GM12878	blood:	n/a	n/a
25	BATF	chr11:48885664-48885889	GM12878	blood:	n/a	n/a
26	BATF	chr11:48877440-48877803	GM12878	blood:	n/a	n/a
27	BATF	chr11:48861740-48862096	GM12878	blood:	n/a	n/a
28	BATF	chr11:48856700-48857102	GM12878	blood:	n/a	n/a
29	BATF	chr11:48932107-48932317	GM12878	blood:	n/a	n/a
30	BATF	chr11:48898982-48899252	GM12878	blood:	n/a	n/a
31	BATF	chr11:48895948-48896327	GM12878	blood:	n/a	n/a
32	BATF	chr11:48883215-48883597	GM12878	blood:	n/a	n/a
33	BATF	chr11:48906491-48906775	GM12878	blood:	n/a	chr11:48906618-48906628
34	BATF	chr11:48859171-48859730	GM12878	blood:	n/a	n/a
35	BATF	chr11:48888085-48888631	GM12878	blood:	n/a	n/a
36	BATF	chr11:48935181-48935425	GM12878	blood:	n/a	n/a
37	BATF	chr11:48883213-48883919	GM12878	blood:	n/a	n/a
38	BATF	chr11:48877878-48878291	GM12878	blood:	n/a	n/a
39	BATF	chr11:48810174-48810367	GM12878	blood:	n/a	n/a
40	BATF	chr11:48894524-48895290	GM12878	blood:	n/a	n/a
41	BATF	chr11:48866749-48866988	GM12878	blood:	n/a	n/a
42	BATF	chr11:48854717-48855191	GM12878	blood:	n/a	n/a
43	BATF	chr11:48854637-48855193	GM12878	blood:	n/a	n/a
44	BATF	chr11:48834286-48834608	GM12878	blood:	n/a	n/a
45	BATF	chr11:48831050-48831447	GM12878	blood:	n/a	n/a
46	BATF	chr11:48817733-48818014	GM12878	blood:	n/a	n/a
47	BATF	chr11:48898958-48899437	GM12878	blood:	n/a	n/a
48	BATF	chr11:48906543-48906879	GM12878	blood:	n/a	chr11:48906618-48906628
49	BATF	chr11:48828245-48828541	GM12878	blood:	n/a	n/a
50	BATF	chr11:48934117-48934343	GM12878	blood:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48923577-48923627	SAEC	small airway:	n/a
2	chr11:48901914-48901964	PrEC	prostate:	n/a
3	chr11:48924804-48924854	HepG2	liver:	n/a
4	chr11:48922741-48922791	SK-N-MC	brain:	n/a
5	chr11:48923392-48923442	NT2-D1	testis:	n/a
6	chr11:48922674-48922724	NT2-D1	testis:	n/a
7	chr11:48924804-48924854	SK-N-SH	brain:	n/a
8	chr11:48923577-48923627	HEEpiC	esophagus:	n/a
9	chr11:48901705-48901755	HUVEC	blood vessel:	n/a
10	chr11:48924804-48924854	Caco-2	colon:	n/a
11	chr11:48880009-48880059	SK-N-MC	brain:	n/a
12	chr11:48923577-48923627	T-47D	breast:	n/a
13	chr11:48922271-48922321	MCF-7	breast:	n/a
14	chr11:48922674-48922724	GM06990	blood:	n/a
15	chr11:48901705-48901755	AG04449	skin:	fetal
16	chr11:48922269-48922319	RPTEC	kidney:	n/a
17	chr11:48923668-48923718	ovcar-3	ovarian:	n/a
18	chr11:48924804-48924854	LNCaP	prostate:	n/a
19	chr11:48922269-48922319	GM12878	blood:	n/a
20	chr11:48880009-48880059	HepG2	liver:	n/a
21	chr11:48923577-48923627	A549	lung:	n/a
22	chr11:48922035-48922085	T-47D	breast:	n/a
23	chr11:48901705-48901755	CMK	blood:	n/a
24	chr11:48924804-48924854	GM06990	blood:	n/a
25	chr11:48924804-48924854	Hela-S3	cervix:	n/a
26	chr11:48922269-48922319	IMR90	lung:	fetal
27	chr11:48922035-48922085	SKMC	muscle:	n/a
28	chr11:48923577-48923627	SK-N-MC	brain:	n/a
29	chr11:48901914-48901964	SAEC	small airway:	n/a
30	chr11:48901914-48901964	Caco-2	colon:	n/a
31	chr11:48922741-48922791	PANC-1	pancreas:	n/a
32	chr11:48922674-48922724	ovcar-3	ovarian:	n/a
33	chr11:48901914-48901964	AG04450	lung:	fetal
34	chr11:48902014-48902064	GM12892	blood:	n/a
35	chr11:48922035-48922085	HCM	heart:	n/a
36	chr11:48922674-48922724	Hela-S3	cervix:	n/a
37	chr11:48901914-48901964	RPTEC	kidney:	n/a
38	chr11:48922271-48922321	BJ	skin:	n/a
39	chr11:48922741-48922791	LNCaP	prostate:	n/a
40	chr11:48923577-48923627	AoSMC	blood vessel:	n/a
41	chr11:48923577-48923627	AG04449	skin:	fetal
42	chr11:48922741-48922791	AG09309	skin:	n/a
43	chr11:48922271-48922321	A549	lung:	n/a
44	chr11:48923577-48923627	NHBE	bronchial:	n/a
45	chr11:48922269-48922319	AG04449	skin:	fetal
46	chr11:48923668-48923718	U87	brain:	n/a
47	chr11:48922271-48922321	PFSK-1	brain:	n/a
48	chr11:48924804-48924854	HCPEpiC	choroid plexus:	n/a
49	chr11:48880009-48880059	SKMC	muscle:	n/a
50	chr11:48922674-48922724	HEK293	kidney:	embryo

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:121484496..121485051-chr11:48865024..48865528,2	K562	blood:
2	chr1:121484040..121484766-chr11:48865024..48865526,2	MCF-7	breast:
3	chr11:48811378..48811898-chr8:46850618..46851141,2	MCF-7	breast:
4	chr11:48862246..48863766-chr12:38036979..38038502,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC084851.1-5	chr11:48919540-48919822	NONHSAT021301
2	lnc-AC084851.1-5	chr11:48914808-48914900	NONHSAT021301
3	lnc-AC084851.1-5	chr11:48916513-48916636	NONHSAT021301
4	lnc-AC084851.1-4	chr11:48929840-48930498	NONHSAT021302
5	lnc-AC084851.1-4	chr11:48928655-48928750	NONHSAT021302
6	lnc-AC084851.1-5	chr11:48919940-48920255	NONHSAT021301

No data

Variant related genes	Relation type
ENSG00000255527	TF binding region
ENSG00000255551	TF binding region
ENSG00000254920	TF binding region
ENSG00000254728	TF binding region
ENSG00000255527	CpG island
ENSG00000255551	CpG island
ENSG00000254920	CpG island
ENSG00000254728	CpG island

Extended variants
information (count: 11726 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:11726 , 50 per page) page: 1 2 3 4 5 6 7 ... 235

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61896708	chr11:48810275-48810276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs201946470	chr11:48810282-48810283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs534792778	chr11:48810288-48810289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs558104709	chr11:48810298-48810299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs61896709	chr11:48810299-48810300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs201416303	chr11:48810301-48810302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs577972397	chr11:48810309-48810310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs113453873	chr11:48810316-48810317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs61896710	chr11:48810320-48810321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs539848453	chr11:48810322-48810323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs556553167	chr11:48810323-48810324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs61896711	chr11:48810329-48810330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs199596078	chr11:48810353-48810354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs113957485	chr11:48810388-48810389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs576383955	chr11:48810390-48810391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs374177488	chr11:48810392-48810393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs541999946	chr11:48810402-48810403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs201885943	chr11:48810407-48810408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs184662295	chr11:48810414-48810415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs11530324	chr11:48810444-48810445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs149303613	chr11:48810447-48810448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs140274615	chr11:48810448-48810449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs145791467	chr11:48810455-48810456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs11530325	chr11:48810468-48810469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs144958305	chr11:48810470-48810471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs61896712	chr11:48810473-48810474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs533400977	chr11:48810481-48810482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs376082974	chr11:48810482-48810483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs376330467	chr11:48810483-48810484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs11530326	chr11:48810511-48810512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs555210091	chr11:48810512-48810513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs2202614	chr11:48810528-48810529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs534825717	chr11:48810547-48810548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs201022795	chr11:48810565-48810566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs551558628	chr11:48810574-48810575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs11499916	chr11:48810580-48810581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs189182267	chr11:48810594-48810595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs111315979	chr11:48810613-48810614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs534322436	chr11:48810629-48810630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs557285897	chr11:48810630-48810631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs113531515	chr11:48810637-48810638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs182223234	chr11:48810648-48810649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs201319776	chr11:48810653-48810654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112908863	chr11:48810660-48810661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs148799280	chr11:48810662-48810663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs200431554	chr11:48810663-48810664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs199979970	chr11:48810664-48810665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs200916274	chr11:48810665-48810666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs2202615	chr11:48810667-48810668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs541235777	chr11:48810674-48810675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Medulloblastoma	21163964	CNVD
early-passage human iPS cells	21368824	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:604 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48801800-48812400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr11:48809200-48817000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr11:48809400-48820600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr11:48810200-48810400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr11:48810200-48810400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:48810200-48810400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
7	chr11:48810200-48810400	ZNF genes & repeats	NH-A	brain
8	chr11:48811000-48811200	ZNF genes & repeats	NH-A	brain
9	chr11:48811200-48816200	Weak transcription	NH-A	brain
10	chr11:48811400-48812000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:48811400-48815000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:48814400-48814600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr11:48814800-48815000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:48815000-48816200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:48815200-48817600	Weak transcription	NHEK	skin
16	chr11:48816200-48816600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:48816200-48816600	ZNF genes & repeats	HUVEC	blood vessel
18	chr11:48816200-48816600	Active TSS	NH-A	brain
19	chr11:48816200-48816800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr11:48816200-48816800	ZNF genes & repeats	Primary T cells from cord blood	blood
21	chr11:48820200-48830000	Weak transcription	HUVEC	blood vessel
22	chr11:48825800-48834000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr11:48825800-48835600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr11:48826200-48826600	ZNF genes & repeats	Osteobl	bone
25	chr11:48826800-48831800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
26	chr11:48827600-48836400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:48830000-48830600	ZNF genes & repeats	HUVEC	blood vessel
28	chr11:48830400-48830800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr11:48830400-48830800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:48832600-48847000	Weak transcription	K562	blood
31	chr11:48832800-48833600	ZNF genes & repeats	HepG2	liver
32	chr11:48833600-48835200	Weak transcription	HUVEC	blood vessel
33	chr11:48835200-48835600	ZNF genes & repeats	HUVEC	blood vessel
34	chr11:48835200-48840400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr11:48838800-48840000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:48838800-48840800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
37	chr11:48839600-48840200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
38	chr11:48842000-48846600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr11:48843000-48847200	ZNF genes & repeats	HepG2	liver
40	chr11:48844200-48846200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr11:48845200-48845400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr11:48845400-48845600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:48845400-48845600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:48845400-48845600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
45	chr11:48845400-48845600	Bivalent/Poised TSS	Pancreas	Pancrea
46	chr11:48845400-48845600	Bivalent/Poised TSS	Psoas Muscle	Psoas
47	chr11:48845400-48845800	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:48845400-48845800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:48845400-48845800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
50	chr11:48845400-48845800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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