Variant report

Variant	esv10297
Chromosome Location	chr11:48686870-48901524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2606)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2606 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

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	chr11:48880376-48880748	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	chr11:48883351-48883720	K562	blood:	n/a	n/a
6	ATF1	chr11:48845364-48845733	K562	blood:	n/a	n/a
7	ATF1	chr11:48880374-48880748	K562	blood:	n/a	n/a
8	ATF1	chr11:48796111-48796444	K562	blood:	n/a	n/a
9	ATF1	chr11:48849264-48849333	K562	blood:	n/a	n/a
10	ATF1	chr11:48867583-48867993	K562	blood:	n/a	n/a
11	ATF1	chr11:48859189-48859770	K562	blood:	n/a	n/a
12	ATF1	chr11:48896850-48897050	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	chr11:48814467-48814498	K562	blood:	n/a	n/a
17	BACH1	chr11:48881669-48882080	K562	blood:	n/a	n/a
18	BATF	chr11:48886811-48887099	GM12878	blood:	n/a	n/a
19	BATF	chr11:48883213-48883919	GM12878	blood:	n/a	n/a
20	BATF	chr11:48776576-48776723	GM12878	blood:	n/a	n/a
21	BATF	chr11:48898958-48899437	GM12878	blood:	n/a	n/a
22	BATF	chr11:48887996-48888565	GM12878	blood:	n/a	n/a
23	BATF	chr11:48844232-48844479	GM12878	blood:	n/a	n/a
24	BATF	chr11:48775372-48775512	GM12878	blood:	n/a	n/a
25	BATF	chr11:48839569-48839852	GM12878	blood:	n/a	n/a
26	BATF	chr11:48860990-48861237	GM12878	blood:	n/a	n/a
27	BATF	chr11:48741581-48741798	GM12878	blood:	n/a	n/a
28	BATF	chr11:48894524-48895290	GM12878	blood:	n/a	n/a
29	BATF	chr11:48828245-48828541	GM12878	blood:	n/a	n/a
30	BATF	chr11:48867677-48867900	GM12878	blood:	n/a	n/a
31	BATF	chr11:48776572-48776725	GM12878	blood:	n/a	n/a
32	BATF	chr11:48895950-48896265	GM12878	blood:	n/a	n/a
33	BATF	chr11:48861740-48862096	GM12878	blood:	n/a	n/a
34	BATF	chr11:48844167-48844436	GM12878	blood:	n/a	n/a
35	BATF	chr11:48844664-48844887	GM12878	blood:	n/a	n/a
36	BATF	chr11:48877878-48878291	GM12878	blood:	n/a	n/a
37	BATF	chr11:48885554-48885939	GM12878	blood:	n/a	n/a
38	BATF	chr11:48898982-48899252	GM12878	blood:	n/a	n/a
39	BATF	chr11:48805015-48805320	GM12878	blood:	n/a	n/a
40	BATF	chr11:48817733-48818014	GM12878	blood:	n/a	n/a
41	BATF	chr11:48775367-48775560	GM12878	blood:	n/a	n/a
42	BATF	chr11:48810469-48810756	GM12878	blood:	n/a	n/a
43	BATF	chr11:48856700-48857102	GM12878	blood:	n/a	n/a
44	BATF	chr11:48866749-48866988	GM12878	blood:	n/a	n/a
45	BATF	chr11:48867136-48868238	GM12878	blood:	n/a	n/a
46	BATF	chr11:48810099-48810738	GM12878	blood:	n/a	n/a
47	BATF	chr11:48861796-48862105	GM12878	blood:	n/a	n/a
48	BATF	chr11:48834403-48834545	GM12878	blood:	n/a	n/a
49	BATF	chr11:48831050-48831447	GM12878	blood:	n/a	n/a
50	BATF	chr11:48854637-48855193	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48880009-48880059	H1-hESC	embryonic stem cell:	embryo
2	chr11:48880009-48880059	HEEpiC	esophagus:	n/a
3	chr11:48880009-48880059	PANC-1	pancreas:	n/a
4	chr11:48880009-48880059	HIPEpiC	eye:	n/a
5	chr11:48880009-48880059	NHDF-neo	bronchial:	n/a
6	chr11:48880009-48880059	AG04450	lung:	fetal
7	chr11:48880009-48880059	SK-N-MC	brain:	n/a
8	chr11:48880009-48880059	K562	blood:	n/a
9	chr11:48880009-48880059	HRCEpiC	kidney:	n/a
10	chr11:48880009-48880059	NT2-D1	testis:	n/a
11	chr11:48880009-48880059	Hela-S3	cervix:	n/a
12	chr11:48880009-48880059	SKMC	muscle:	n/a
13	chr11:48880009-48880059	NH-A	brain:	n/a
14	chr11:48880009-48880059	IMR90	lung:	fetal
15	chr11:48880009-48880059	HRE	kidney:	n/a
16	chr11:48880009-48880059	MCF10A-Er-Src	breast:	n/a
17	chr11:48880009-48880059	GM12892	blood:	n/a
18	chr11:48880009-48880059	T-47D	breast:	n/a
19	chr11:48880009-48880059	HL-60	blood:	n/a
20	chr11:48880009-48880059	AG09309	skin:	n/a
21	chr11:48880009-48880059	MCF-7	breast:	n/a
22	chr11:48880009-48880059	HCF	heart:	n/a
23	chr11:48880009-48880059	NB4	blood:	n/a
24	chr11:48880009-48880059	Hepatocyte	liver:	n/a
25	chr11:48880009-48880059	AG10803	skin:	n/a
26	chr11:48880009-48880059	SK-N-SH	brain:	n/a
27	chr11:48880009-48880059	GM06990	blood:	n/a
28	chr11:48880009-48880059	HMEC	breast:	n/a
29	chr11:48880009-48880059	HUVEC	blood vessel:	n/a
30	chr11:48880009-48880059	RPTEC	kidney:	n/a
31	chr11:48880009-48880059	SK-N-SH_RA	brain:	n/a
32	chr11:48880009-48880059	HEK293	kidney:	embryo
33	chr11:48880009-48880059	ECC-1	luminal epithelium:	n/a
34	chr11:48880009-48880059	ovcar-3	ovarian:	n/a
35	chr11:48880009-48880059	AG04449	skin:	fetal
36	chr11:48880009-48880059	HCPEpiC	choroid plexus:	n/a
37	chr11:48880009-48880059	A549	lung:	n/a
38	chr11:48880009-48880059	CMK	blood:	n/a
39	chr11:48880009-48880059	PFSK-1	brain:	n/a
40	chr11:48880009-48880059	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:48880009-48880059	AG09319	gingival:	n/a
42	chr11:48880009-48880059	LNCaP	prostate:	n/a
43	chr11:48880009-48880059	HRPEpiC	eye:	n/a
44	chr11:48880009-48880059	Jurkat	blood:	n/a
45	chr11:48880009-48880059	NHBE	bronchial:	n/a
46	chr11:48880009-48880059	GM12891	blood:	n/a
47	chr11:48880009-48880059	HAEpiC	amniotic membrane:	n/a
48	chr11:48880009-48880059	ProgFib	skin:	n/a
49	chr11:48880009-48880059	Caco-2	colon:	n/a
50	chr11:48880009-48880059	U87	brain:	n/a

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

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

No data

Variant related genes	Relation type
ENSG00000255551	TF binding region
ENSG00000255551	CpG island

Extended variants
information (count: 15260 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:15260 , 50 per page) page: 1 2 3 4 5 6 7 ... 306

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1605359	chr11:48686871-48686872	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549868485	chr11:48686878-48686879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs570037677	chr11:48686944-48686945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs535552913	chr11:48686969-48686970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs143230241	chr11:48686976-48686977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs147881156	chr11:48687021-48687022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs565921816	chr11:48687045-48687046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs374269142	chr11:48687046-48687047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs556132634	chr11:48687057-48687058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs558350100	chr11:48687075-48687076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs578160562	chr11:48687107-48687108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs116281538	chr11:48687117-48687118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs556635064	chr11:48687122-48687123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs141411524	chr11:48687152-48687153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112397928	chr11:48687176-48687177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs542734896	chr11:48687186-48687187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs184574199	chr11:48687187-48687188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs189444832	chr11:48687205-48687206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs115432726	chr11:48687222-48687223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs116764975	chr11:48687235-48687236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs77467068	chr11:48687278-48687279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs550899592	chr11:48687281-48687282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs115111107	chr11:48687303-48687304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs529285011	chr11:48687362-48687363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs535389376	chr11:48687375-48687376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs549046539	chr11:48687388-48687389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs115462886	chr11:48687427-48687428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs191732405	chr11:48687436-48687437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs77080388	chr11:48687437-48687438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs571813394	chr11:48687440-48687441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs184180767	chr11:48687445-48687446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs557674741	chr11:48687473-48687474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs573662510	chr11:48687477-48687478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs11822488	chr11:48687522-48687523	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368115289	chr11:48687549-48687550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs138075130	chr11:48687568-48687569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs79570784	chr11:48687597-48687598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs545092208	chr11:48687621-48687622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs189121694	chr11:48687629-48687630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs530775328	chr11:48687658-48687659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs544165367	chr11:48687687-48687688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs181849826	chr11:48687695-48687696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs187359429	chr11:48687709-48687710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs35327738	chr11:48687735-48687736	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs35462930	chr11:48687758-48687759	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs543476647	chr11:48687778-48687779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs114350645	chr11:48687779-48687780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs561657090	chr11:48687820-48687821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs142204624	chr11:48687841-48687842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs146390616	chr11:48687895-48687896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	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
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
Medulloblastoma	21163964	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:736 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48680200-48688400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:48686800-48688000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr11:48688200-48691800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr11:48694000-48695400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr11:48694200-48695800	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr11:48695400-48695800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:48696800-48698200	ZNF genes & repeats	Liver	Liver
8	chr11:48697200-48699000	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr11:48698200-48698800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:48704600-48705400	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr11:48711000-48712200	ZNF genes & repeats	Liver	Liver
12	chr11:48717600-48718400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr11:48718000-48718200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
14	chr11:48718000-48718200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:48718000-48718200	ZNF genes & repeats	HUVEC	blood vessel
16	chr11:48718000-48718200	ZNF genes & repeats	NH-A	brain
17	chr11:48718000-48718400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr11:48718000-48718400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr11:48718000-48718600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr11:48718000-48719000	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr11:48718200-48718400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
22	chr11:48728000-48728800	ZNF genes & repeats	Liver	Liver
23	chr11:48728400-48728800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr11:48731000-48732600	ZNF genes & repeats	Liver	Liver
25	chr11:48731400-48733000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr11:48731400-48735600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:48732600-48733400	Weak transcription	Liver	Liver
28	chr11:48733200-48734600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr11:48733200-48735800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr11:48733400-48734200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
31	chr11:48733400-48734200	ZNF genes & repeats	Liver	Liver
32	chr11:48733400-48734400	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr11:48733800-48734200	Active TSS	Right Atrium	heart
34	chr11:48734200-48738400	Weak transcription	Right Atrium	heart
35	chr11:48736600-48742600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:48738000-48739600	ZNF genes & repeats	Adipose Nuclei	Adipose
37	chr11:48738400-48739200	Active TSS	Right Atrium	heart
38	chr11:48738800-48742000	ZNF genes & repeats	Liver	Liver
39	chr11:48741200-48742400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:48743800-48744600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr11:48744200-48744800	ZNF genes & repeats	Liver	Liver
42	chr11:48750800-48751400	ZNF genes & repeats	Adipose Nuclei	Adipose
43	chr11:48762000-48763800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr11:48762600-48764200	ZNF genes & repeats	Liver	Liver
45	chr11:48763000-48763600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:48763000-48765600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr11:48763200-48763400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
48	chr11:48763200-48763600	Active TSS	Aorta	Aorta
49	chr11:48763200-48763600	ZNF genes & repeats	Brain Anterior Caudate	brain
50	chr11:48763200-48763600	ZNF genes & repeats	Brain Hippocampus Middle	brain

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