Variant report

Variant	esv3351411
Chromosome Location	chr11:48817948-48954739
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2698)
CpG islands
(count:794)
Chromatin interactive
region (count:4)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2698 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:48892892-48893269	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:48895975-48896341	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:48880376-48880748	HepG2	liver:	n/a	n/a
4	ATF1	chr11:48892890-48893270	K562	blood:	n/a	n/a
5	ATF1	chr11:48883351-48883720	K562	blood:	n/a	n/a
6	ATF1	chr11:48880374-48880748	K562	blood:	n/a	n/a
7	ATF1	chr11:48940082-48940286	K562	blood:	n/a	n/a
8	ATF1	chr11:48867583-48867993	K562	blood:	n/a	n/a
9	ATF1	chr11:48896850-48897050	K562	blood:	n/a	n/a
10	ATF1	chr11:48845364-48845733	K562	blood:	n/a	n/a
11	ATF1	chr11:48849264-48849333	K562	blood:	n/a	n/a
12	ATF1	chr11:48859189-48859770	K562	blood:	n/a	n/a
13	ATF1	chr11:48895825-48896343	K562	blood:	n/a	n/a
14	ATF3	chr11:48845439-48845653	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr11:48892858-48893151	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr11:48881669-48882080	K562	blood:	n/a	n/a
17	BATF	chr11:48854717-48855191	GM12878	blood:	n/a	n/a
18	BATF	chr11:48898982-48899252	GM12878	blood:	n/a	n/a
19	BATF	chr11:48883213-48883919	GM12878	blood:	n/a	n/a
20	BATF	chr11:48935181-48935425	GM12878	blood:	n/a	n/a
21	BATF	chr11:48877883-48878085	GM12878	blood:	n/a	n/a
22	BATF	chr11:48885554-48885939	GM12878	blood:	n/a	n/a
23	BATF	chr11:48883215-48883597	GM12878	blood:	n/a	n/a
24	BATF	chr11:48860990-48861237	GM12878	blood:	n/a	n/a
25	BATF	chr11:48877440-48877803	GM12878	blood:	n/a	n/a
26	BATF	chr11:48894524-48895290	GM12878	blood:	n/a	n/a
27	BATF	chr11:48931968-48932274	GM12878	blood:	n/a	n/a
28	BATF	chr11:48934181-48934321	GM12878	blood:	n/a	n/a
29	BATF	chr11:48828245-48828541	GM12878	blood:	n/a	n/a
30	BATF	chr11:48906491-48906775	GM12878	blood:	n/a	chr11:48906618-48906628
31	BATF	chr11:48934428-48934662	GM12878	blood:	n/a	n/a
32	BATF	chr11:48953227-48953611	GM12878	blood:	n/a	n/a
33	BATF	chr11:48946385-48946719	GM12878	blood:	n/a	n/a
34	BATF	chr11:48842846-48843034	GM12878	blood:	n/a	n/a
35	BATF	chr11:48916618-48916954	GM12878	blood:	n/a	chr11:48916904-48916914
36	BATF	chr11:48834403-48834545	GM12878	blood:	n/a	n/a
37	BATF	chr11:48934117-48934343	GM12878	blood:	n/a	n/a
38	BATF	chr11:48834286-48834608	GM12878	blood:	n/a	n/a
39	BATF	chr11:48945095-48945310	GM12878	blood:	n/a	n/a
40	BATF	chr11:48828245-48828584	GM12878	blood:	n/a	n/a
41	BATF	chr11:48940420-48940720	GM12878	blood:	n/a	n/a
42	BATF	chr11:48861796-48862105	GM12878	blood:	n/a	n/a
43	BATF	chr11:48932107-48932317	GM12878	blood:	n/a	n/a
44	BATF	chr11:48844232-48844479	GM12878	blood:	n/a	n/a
45	BATF	chr11:48844664-48844887	GM12878	blood:	n/a	n/a
46	BATF	chr11:48945011-48945390	GM12878	blood:	n/a	n/a
47	BATF	chr11:48906543-48906879	GM12878	blood:	n/a	chr11:48906618-48906628
48	BATF	chr11:48898958-48899437	GM12878	blood:	n/a	n/a
49	BATF	chr11:48856700-48857102	GM12878	blood:	n/a	n/a
50	BATF	chr11:48817733-48818014	GM12878	blood:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48901914-48901964	NHDF-neo	bronchial:	n/a
2	chr11:48901914-48901964	NHDF-neo	bronchial:	n/a
3	chr11:48923392-48923442	HRCEpiC	kidney:	n/a
4	chr11:48922271-48922321	HepG2	liver:	n/a
5	chr11:48923577-48923627	Jurkat	blood:	n/a
6	chr11:48901705-48901755	Hela-S3	cervix:	n/a
7	chr11:48922271-48922321	K562	blood:	n/a
8	chr11:48924804-48924854	HPAEpiC	pulmonary alveolar:	n/a
9	chr11:48922674-48922724	HL-60	blood:	n/a
10	chr11:48922674-48922724	H1-hESC	embryonic stem cell:	embryo
11	chr11:48902014-48902064	Hepatocyte	liver:	n/a
12	chr11:48901914-48901964	HCM	heart:	n/a
13	chr11:48880009-48880059	CMK	blood:	n/a
14	chr11:48922271-48922321	GM06990	blood:	n/a
15	chr11:48922269-48922319	ECC-1	luminal epithelium:	n/a
16	chr11:48923577-48923627	HMEC	breast:	n/a
17	chr11:48923668-48923718	HMEC	breast:	n/a
18	chr11:48922741-48922791	T-47D	breast:	n/a
19	chr11:48922674-48922724	IMR90	lung:	fetal
20	chr11:48901914-48901964	HRCEpiC	kidney:	n/a
21	chr11:48901914-48901964	AG09319	gingival:	n/a
22	chr11:48924804-48924854	GM12878	blood:	n/a
23	chr11:48922741-48922791	AG04449	skin:	fetal
24	chr11:48922741-48922791	HRPEpiC	eye:	n/a
25	chr11:48922035-48922085	HMEC	breast:	n/a
26	chr11:48924804-48924854	AoSMC	blood vessel:	n/a
27	chr11:48922035-48922085	T-47D	breast:	n/a
28	chr11:48924804-48924854	PrEC	prostate:	n/a
29	chr11:48924804-48924854	AG09319	gingival:	n/a
30	chr11:48923668-48923718	Caco-2	colon:	n/a
31	chr11:48901705-48901755	HUVEC	blood vessel:	n/a
32	chr11:48923668-48923718	AG04449	skin:	fetal
33	chr11:48923668-48923718	HNPCEpiC	eye:	n/a
34	chr11:48880009-48880059	A549	lung:	n/a
35	chr11:48901705-48901755	SAEC	small airway:	n/a
36	chr11:48922741-48922791	HNPCEpiC	eye:	n/a
37	chr11:48924804-48924854	HMEC	breast:	n/a
38	chr11:48880009-48880059	K562	blood:	n/a
39	chr11:48922035-48922085	CMK	blood:	n/a
40	chr11:48901914-48901964	HCF	heart:	n/a
41	chr11:48923577-48923627	HRE	kidney:	n/a
42	chr11:48901914-48901964	HRPEpiC	eye:	n/a
43	chr11:48922269-48922319	PFSK-1	brain:	n/a
44	chr11:48901705-48901755	GM12892	blood:	n/a
45	chr11:48922271-48922321	HAEpiC	amniotic membrane:	n/a
46	chr11:48923577-48923627	GM06990	blood:	n/a
47	chr11:48922674-48922724	NH-A	brain:	n/a
48	chr11:48922269-48922319	Hela-S3	cervix:	n/a
49	chr11:48901914-48901964	NHBE	bronchial:	n/a
50	chr11:48880009-48880059	BE2_C	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:121484040..121484766-chr11:48865024..48865526,2	MCF-7	breast:
2	chr1:121484496..121485051-chr11:48865024..48865528,2	K562	blood:
3	chr11:48862246..48863766-chr12:38036979..38038502,2	MCF-7	breast:
4	chr1:121484902..121485419-chr11:48946286..48946806,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC084851.1-5	chr11:48914808-48914900	NONHSAT021301
2	lnc-AC084851.1-5	chr11:48916513-48916636	NONHSAT021301
3	lnc-AC084851.1-4	chr11:48928655-48928750	NONHSAT021302
4	lnc-AC084851.1-4	chr11:48929840-48930498	NONHSAT021302
5	lnc-AC084851.1-5	chr11:48919940-48920255	NONHSAT021301
6	lnc-AC084851.1-5	chr11:48919540-48919822	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: 12438 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:12438 , 50 per page) page: 1 2 3 4 5 6 7 ... 249

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201670504	chr11:48817966-48817967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs374268716	chr11:48817973-48817974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs200211109	chr11:48817982-48817983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs529107458	chr11:48817986-48817987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs201542876	chr11:48817988-48817989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs549150147	chr11:48817994-48817995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs374958829	chr11:48818001-48818002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs370831697	chr11:48818014-48818015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs199698938	chr11:48818015-48818016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs140897295	chr11:48818020-48818021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs149057256	chr11:48818022-48818023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs112028798	chr11:48818025-48818026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs143052830	chr11:48818032-48818033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs528425586	chr11:48818035-48818036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs144715026	chr11:48818045-48818046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs369058759	chr11:48818048-48818049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs372894427	chr11:48818049-48818050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs199606227	chr11:48818050-48818051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200716324	chr11:48818051-48818052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201889223	chr11:48818064-48818065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs371779449	chr11:48818068-48818069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs375205839	chr11:48818069-48818070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs142152695	chr11:48818076-48818077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs148720758	chr11:48818079-48818080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs141399303	chr11:48818081-48818082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs148829794	chr11:48818083-48818084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs146372232	chr11:48818085-48818086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs369725229	chr11:48818087-48818088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs551369833	chr11:48818099-48818100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs373551654	chr11:48818102-48818103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs139816893	chr11:48818107-48818108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs375026179	chr11:48818108-48818109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs145902835	chr11:48818109-48818110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs199808232	chr11:48818112-48818113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs143109256	chr11:48818114-48818115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs369165548	chr11:48818115-48818116	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs570854749	chr11:48818116-48818117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs539423379	chr11:48818120-48818121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs144033443	chr11:48818130-48818131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs375800138	chr11:48818131-48818132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs192362342	chr11:48818139-48818140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs201968241	chr11:48818141-48818142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs369132923	chr11:48818143-48818144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs373331982	chr11:48818150-48818151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs376373339	chr11:48818152-48818153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs200097388	chr11:48818158-48818159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs151118313	chr11:48818159-48818160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs143836553	chr11:48818165-48818166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs139319606	chr11:48818166-48818167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs370664715	chr11:48818168-48818169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
small cell lung cancer	17426248	CNVD

Chromatin state (count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48809400-48820600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr11:48820200-48830000	Weak transcription	HUVEC	blood vessel
3	chr11:48825800-48834000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr11:48825800-48835600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr11:48826200-48826600	ZNF genes & repeats	Osteobl	bone
6	chr11:48826800-48831800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr11:48827600-48836400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:48830000-48830600	ZNF genes & repeats	HUVEC	blood vessel
9	chr11:48830400-48830800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr11:48830400-48830800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:48832600-48847000	Weak transcription	K562	blood
12	chr11:48832800-48833600	ZNF genes & repeats	HepG2	liver
13	chr11:48833600-48835200	Weak transcription	HUVEC	blood vessel
14	chr11:48835200-48835600	ZNF genes & repeats	HUVEC	blood vessel
15	chr11:48835200-48840400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr11:48838800-48840000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:48838800-48840800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
18	chr11:48839600-48840200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr11:48842000-48846600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr11:48843000-48847200	ZNF genes & repeats	HepG2	liver
21	chr11:48844200-48846200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr11:48845200-48845400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr11:48845400-48845600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:48845400-48845600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:48845400-48845600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
26	chr11:48845400-48845600	Bivalent/Poised TSS	Pancreas	Pancrea
27	chr11:48845400-48845600	Bivalent/Poised TSS	Psoas Muscle	Psoas
28	chr11:48845400-48845800	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:48845400-48845800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:48845400-48845800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
31	chr11:48845400-48845800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:48845400-48845800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:48845400-48845800	Active TSS	Primary B cells from peripheral blood	blood
34	chr11:48845400-48845800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
35	chr11:48845400-48845800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:48845400-48845800	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr11:48845400-48845800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
38	chr11:48845400-48845800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr11:48845400-48845800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:48845400-48845800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:48845400-48845800	Active TSS	Aorta	Aorta
42	chr11:48845400-48845800	ZNF genes & repeats	Liver	Liver
43	chr11:48845400-48845800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
44	chr11:48845400-48845800	ZNF genes & repeats	Colonic Mucosa	Colon
45	chr11:48845400-48845800	ZNF genes & repeats	Left Ventricle	heart
46	chr11:48845400-48845800	Active TSS	Right Atrium	heart
47	chr11:48845400-48845800	ZNF genes & repeats	Small Intestine	intestine
48	chr11:48845400-48846200	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr11:48845600-48845800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:48845600-48845800	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood

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