Variant report

Variant	esv3425325
Chromosome Location	chr11:48821261-48931884
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2070)
CpG islands
(count:794)
Chromatin interactive
region (count:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2070 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:48895975-48896341	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:48892892-48893269	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:48880376-48880748	HepG2	liver:	n/a	n/a
4	ATF1	chr11:48859189-48859770	K562	blood:	n/a	n/a
5	ATF1	chr11:48896850-48897050	K562	blood:	n/a	n/a
6	ATF1	chr11:48845364-48845733	K562	blood:	n/a	n/a
7	ATF1	chr11:48867583-48867993	K562	blood:	n/a	n/a
8	ATF1	chr11:48895825-48896343	K562	blood:	n/a	n/a
9	ATF1	chr11:48892890-48893270	K562	blood:	n/a	n/a
10	ATF1	chr11:48849264-48849333	K562	blood:	n/a	n/a
11	ATF1	chr11:48883351-48883720	K562	blood:	n/a	n/a
12	ATF1	chr11:48880374-48880748	K562	blood:	n/a	n/a
13	ATF3	chr11:48892858-48893151	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF3	chr11:48845439-48845653	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr11:48881669-48882080	K562	blood:	n/a	n/a
16	BATF	chr11:48854637-48855193	GM12878	blood:	n/a	n/a
17	BATF	chr11:48844232-48844479	GM12878	blood:	n/a	n/a
18	BATF	chr11:48895948-48896327	GM12878	blood:	n/a	n/a
19	BATF	chr11:48866749-48866988	GM12878	blood:	n/a	n/a
20	BATF	chr11:48883213-48883919	GM12878	blood:	n/a	n/a
21	BATF	chr11:48828245-48828541	GM12878	blood:	n/a	n/a
22	BATF	chr11:48895950-48896265	GM12878	blood:	n/a	n/a
23	BATF	chr11:48916722-48917006	GM12878	blood:	n/a	chr11:48916904-48916914
24	BATF	chr11:48856704-48856991	GM12878	blood:	n/a	n/a
25	BATF	chr11:48894524-48895290	GM12878	blood:	n/a	n/a
26	BATF	chr11:48916618-48916954	GM12878	blood:	n/a	chr11:48916904-48916914
27	BATF	chr11:48834403-48834545	GM12878	blood:	n/a	n/a
28	BATF	chr11:48828245-48828584	GM12878	blood:	n/a	n/a
29	BATF	chr11:48883215-48883597	GM12878	blood:	n/a	n/a
30	BATF	chr11:48842846-48843034	GM12878	blood:	n/a	n/a
31	BATF	chr11:48856700-48857102	GM12878	blood:	n/a	n/a
32	BATF	chr11:48834286-48834608	GM12878	blood:	n/a	n/a
33	BATF	chr11:48898982-48899252	GM12878	blood:	n/a	n/a
34	BATF	chr11:48906491-48906775	GM12878	blood:	n/a	chr11:48906618-48906628
35	BATF	chr11:48859171-48859730	GM12878	blood:	n/a	n/a
36	BATF	chr11:48877440-48877803	GM12878	blood:	n/a	n/a
37	BATF	chr11:48877883-48878085	GM12878	blood:	n/a	n/a
38	BATF	chr11:48844664-48844887	GM12878	blood:	n/a	n/a
39	BATF	chr11:48839569-48839852	GM12878	blood:	n/a	n/a
40	BATF	chr11:48906543-48906879	GM12878	blood:	n/a	chr11:48906618-48906628
41	BATF	chr11:48877878-48878291	GM12878	blood:	n/a	n/a
42	BATF	chr11:48898958-48899437	GM12878	blood:	n/a	n/a
43	BATF	chr11:48860990-48861237	GM12878	blood:	n/a	n/a
44	BATF	chr11:48887996-48888565	GM12878	blood:	n/a	n/a
45	BATF	chr11:48844167-48844436	GM12878	blood:	n/a	n/a
46	BATF	chr11:48886811-48887099	GM12878	blood:	n/a	n/a
47	BATF	chr11:48885554-48885939	GM12878	blood:	n/a	n/a
48	BATF	chr11:48867677-48867900	GM12878	blood:	n/a	n/a
49	BATF	chr11:48831050-48831447	GM12878	blood:	n/a	n/a
50	BATF	chr11:48894608-48895288	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	chr11:48922674-48922724	HEK293	kidney:	embryo
2	chr11:48922674-48922724	HEK293	kidney:	embryo
3	chr11:48922674-48922724	HMEC	breast:	n/a
4	chr11:48901914-48901964	MCF10A-Er-Src	breast:	n/a
5	chr11:48923668-48923718	H1-hESC	embryonic stem cell:	embryo
6	chr11:48901914-48901964	SK-N-SH_RA	brain:	n/a
7	chr11:48902014-48902064	AG10803	skin:	n/a
8	chr11:48880009-48880059	AG04449	skin:	fetal
9	chr11:48922269-48922319	NH-A	brain:	n/a
10	chr11:48923577-48923627	GM12892	blood:	n/a
11	chr11:48880009-48880059	T-47D	breast:	n/a
12	chr11:48922741-48922791	U87	brain:	n/a
13	chr11:48922674-48922724	ProgFib	skin:	n/a
14	chr11:48922674-48922724	K562	blood:	n/a
15	chr11:48922271-48922321	GM12878	blood:	n/a
16	chr11:48922674-48922724	AG09319	gingival:	n/a
17	chr11:48923577-48923627	HUVEC	blood vessel:	n/a
18	chr11:48923392-48923442	K562	blood:	n/a
19	chr11:48902014-48902064	PANC-1	pancreas:	n/a
20	chr11:48922271-48922321	NHBE	bronchial:	n/a
21	chr11:48922674-48922724	BJ	skin:	n/a
22	chr11:48922035-48922085	AG10803	skin:	n/a
23	chr11:48922674-48922724	AG09309	skin:	n/a
24	chr11:48880009-48880059	Hepatocyte	liver:	n/a
25	chr11:48902014-48902064	HCT-116	colon:	n/a
26	chr11:48922674-48922724	HNPCEpiC	eye:	n/a
27	chr11:48901914-48901964	K562	blood:	n/a
28	chr11:48922674-48922724	HCM	heart:	n/a
29	chr11:48922674-48922724	HCPEpiC	choroid plexus:	n/a
30	chr11:48901705-48901755	Caco-2	colon:	n/a
31	chr11:48901705-48901755	CMK	blood:	n/a
32	chr11:48922674-48922724	HPAEpiC	pulmonary alveolar:	n/a
33	chr11:48922035-48922085	HCM	heart:	n/a
34	chr11:48901914-48901964	A549	lung:	n/a
35	chr11:48923392-48923442	HMEC	breast:	n/a
36	chr11:48880009-48880059	PANC-1	pancreas:	n/a
37	chr11:48923577-48923627	HPAEpiC	pulmonary alveolar:	n/a
38	chr11:48922741-48922791	HUVEC	blood vessel:	n/a
39	chr11:48923392-48923442	SKMC	muscle:	n/a
40	chr11:48923577-48923627	PFSK-1	brain:	n/a
41	chr11:48922741-48922791	GM06990	blood:	n/a
42	chr11:48922271-48922321	IMR90	lung:	fetal
43	chr11:48922741-48922791	MCF-7	breast:	n/a
44	chr11:48923668-48923718	ovcar-3	ovarian:	n/a
45	chr11:48923668-48923718	K562	blood:	n/a
46	chr11:48880009-48880059	GM12892	blood:	n/a
47	chr11:48923668-48923718	NB4	blood:	n/a
48	chr11:48922674-48922724	HIPEpiC	eye:	n/a
49	chr11:48922269-48922319	ProgFib	skin:	n/a
50	chr11:48901914-48901964	HCT-116	colon:	n/a

(count:3 , 50 per page) page: 1

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

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

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

No data

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

Extended variants
information (count: 9447 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:9447 , 50 per page) page: 1 2 3 4 5 6 7 ... 189

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201392959	chr11:48821268-48821269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79596458	chr11:48821272-48821273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111870999	chr11:48821284-48821285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77308009	chr11:48821287-48821288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78571636	chr11:48821288-48821289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74511843	chr11:48821304-48821305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80051635	chr11:48821331-48821332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529029635	chr11:48821332-48821333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563460837	chr11:48821333-48821334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549204643	chr11:48821352-48821353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78954757	chr11:48821370-48821371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76064446	chr11:48821373-48821374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183289969	chr11:48821377-48821378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548982307	chr11:48821382-48821383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76987794	chr11:48821383-48821384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75778771	chr11:48821393-48821394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200719921	chr11:48821395-48821396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547878143	chr11:48821400-48821401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570563838	chr11:48821409-48821410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201807432	chr11:48821419-48821420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199810244	chr11:48821424-48821425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75961431	chr11:48821451-48821452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201732240	chr11:48821453-48821454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565625903	chr11:48821454-48821455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556380031	chr11:48821455-48821456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188014740	chr11:48821460-48821461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576213917	chr11:48821462-48821463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535774854	chr11:48821470-48821471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77191588	chr11:48821475-48821476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555757900	chr11:48821523-48821524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186091398	chr11:48821529-48821530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534441293	chr11:48821586-48821587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540630517	chr11:48821595-48821596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4882211	chr11:48821596-48821597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs111505864	chr11:48821612-48821613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12284194	chr11:48821619-48821620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs188218464	chr11:48821628-48821629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563498252	chr11:48821630-48821631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181096616	chr11:48821648-48821649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542922062	chr11:48821660-48821661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559344925	chr11:48821686-48821687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185487831	chr11:48821688-48821689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190348096	chr11:48821690-48821691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369058596	chr11:48821713-48821714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562123184	chr11:48821750-48821751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183612217	chr11:48821765-48821766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536658721	chr11:48821788-48821789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187384665	chr11:48821807-48821808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148888071	chr11:48821810-48821811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139170290	chr11:48821856-48821857	Weak transcription	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:556 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

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

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