Variant report

Variant	nsv1055108
Chromosome Location	chr11:48331348-48388686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:241)
CpG islands
(count:305)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:241 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:48356437-48356637	K562	blood:	n/a	n/a
2	BACH1	chr11:48356973-48356986	K562	blood:	n/a	n/a
3	BRCA1	chr11:48361931-48361935	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr11:48340990-48341301	A549	lung:	n/a	n/a
5	CEBPB	chr11:48367001-48367415	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr11:48376639-48376671	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr11:48332469-48332671	HepG2	liver:	n/a	chr11:48332598-48332609
8	CEBPB	chr11:48367014-48367428	HCT-116	colon:	n/a	n/a
9	CEBPB	chr11:48367027-48367324	HCT-116	colon:	n/a	n/a
10	CEBPB	chr11:48367044-48367318	HepG2	liver:	n/a	n/a
11	CEBPB	chr11:48374701-48375094	Hela-S3	cervix:	n/a	chr11:48374900-48374913
12	CEBPZ	chr11:48360331-48360376	HepG2	liver:	n/a	n/a
13	CHD2	chr11:48377806-48377814	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr11:48344566-48344658	K562	blood:	n/a	n/a
15	CTCF	chr11:48377730-48377792	A549	lung:	n/a	n/a
16	CTCF	chr11:48361920-48362070	GM12864	blood:	n/a	n/a
17	CTCF	chr11:48382500-48382650	HPF	lung:	n/a	n/a
18	CTCF	chr11:48387420-48387570	Caco-2	colon:	n/a	n/a
19	CTCF	chr11:48387420-48387570	HepG2	liver:	n/a	n/a
20	CTCF	chr11:48387503-48387527	LNCaP	prostate:	n/a	n/a
21	CTCF	chr11:48367060-48367210	K562	blood:	n/a	n/a
22	CTCF	chr11:48387519-48387561	HepG2	liver:	n/a	n/a
23	CTCF	chr11:48367644-48367692	Fibrobl	skin:	n/a	n/a
24	CTCF	chr11:48384480-48384630	GM12869	blood:	n/a	n/a
25	CTCF	chr11:48353060-48353210	HCPEpiC	choroid plexus:	n/a	n/a
26	CTCF	chr11:48362000-48362150	GM12875	blood:	n/a	n/a
27	CTCF	chr11:48361940-48362090	HEK293	kidney:	n/a	n/a
28	CTCF	chr11:48361940-48362090	NB4	blood:	n/a	n/a
29	CTCF	chr11:48361900-48362050	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr11:48387400-48387550	A549	lung:	n/a	n/a
31	CTCF	chr11:48360411-48360480	Fibrobl	skin:	n/a	n/a
32	CTCF	chr11:48361820-48361970	MCF-7	breast:	n/a	n/a
33	CTCF	chr11:48387500-48387650	HepG2	liver:	n/a	n/a
34	CTCF	chr11:48387474-48387580	MCF-7	breast:	n/a	n/a
35	CTCF	chr11:48361860-48362010	GM12873	blood:	n/a	n/a
36	CTCF	chr11:48387460-48387610	Caco-2	colon:	n/a	n/a
37	CTCF	chr11:48361920-48362070	GM06990	blood:	n/a	n/a
38	CTCF	chr11:48387420-48387570	GM12872	blood:	n/a	n/a
39	CTCF	chr11:48387440-48387590	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr11:48377200-48377350	GM12866	blood:	n/a	n/a
41	CTCF	chr11:48378591-48378684	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr11:48387460-48387610	GM12873	blood:	n/a	n/a
43	CTCF	chr11:48387380-48387530	HMF	breast:	n/a	n/a
44	CTCF	chr11:48347233-48347255	Fibrobl	skin:	n/a	n/a
45	CTCF	chr11:48387640-48387790	GM12878	blood:	n/a	n/a
46	CTCF	chr11:48387466-48387587	MCF-7	breast:	n/a	n/a
47	CTCF	chr11:48362002-48362026	MCF-7	breast:	n/a	n/a
48	CTCF	chr11:48355180-48355330	HFF-Myc	foreskin:	n/a	n/a
49	CTCF	chr11:48387540-48387690	GM12870	blood:	n/a	n/a
50	CTCF	chr11:48387456-48387593	MCF-7	breast:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48345815-48345865	BJ	skin:	n/a
2	chr11:48345361-48345411	HNPCEpiC	eye:	n/a
3	chr11:48346680-48346730	HCPEpiC	choroid plexus:	n/a
4	chr11:48374446-48374496	SK-N-SH_RA	brain:	n/a
5	chr11:48367974-48368024	GM19239	blood:	n/a
6	chr11:48346680-48346730	HCM	heart:	n/a
7	chr11:48345361-48345411	Jurkat	blood:	n/a
8	chr11:48346680-48346730	NH-A	brain:	n/a
9	chr11:48345815-48345865	SAEC	small airway:	n/a
10	chr11:48345361-48345411	SKMC	muscle:	n/a
11	chr11:48374446-48374496	NHDF-neo	bronchial:	n/a
12	chr11:48345361-48345411	GM12878	blood:	n/a
13	chr11:48374446-48374496	HEK293	kidney:	embryo
14	chr11:48346680-48346730	Jurkat	blood:	n/a
15	chr11:48374446-48374496	GM12892	blood:	n/a
16	chr11:48345815-48345865	RPTEC	kidney:	n/a
17	chr11:48346680-48346730	GM19239	blood:	n/a
18	chr11:48367974-48368024	ovcar-3	ovarian:	n/a
19	chr11:48345815-48345865	Hela-S3	cervix:	n/a
20	chr11:48346680-48346730	HPAEpiC	pulmonary alveolar:	n/a
21	chr11:48367974-48368024	BJ	skin:	n/a
22	chr11:48374446-48374496	CMK	blood:	n/a
23	chr11:48374446-48374496	RPTEC	kidney:	n/a
24	chr11:48345361-48345411	AG09319	gingival:	n/a
25	chr11:48367974-48368024	GM12878	blood:	n/a
26	chr11:48367974-48368024	SAEC	small airway:	n/a
27	chr11:48346680-48346730	AG10803	skin:	n/a
28	chr11:48345815-48345865	PANC-1	pancreas:	n/a
29	chr11:48374446-48374496	K562	blood:	n/a
30	chr11:48374446-48374496	HNPCEpiC	eye:	n/a
31	chr11:48367974-48368024	HCPEpiC	choroid plexus:	n/a
32	chr11:48374446-48374496	HRCEpiC	kidney:	n/a
33	chr11:48345361-48345411	PrEC	prostate:	n/a
34	chr11:48374446-48374496	AG09319	gingival:	n/a
35	chr11:48345361-48345411	HEK293	kidney:	embryo
36	chr11:48367974-48368024	HIPEpiC	eye:	n/a
37	chr11:48374446-48374496	HCM	heart:	n/a
38	chr11:48345361-48345411	SK-N-SH	brain:	n/a
39	chr11:48374446-48374496	ovcar-3	ovarian:	n/a
40	chr11:48374446-48374496	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:48346680-48346730	PrEC	prostate:	n/a
42	chr11:48345815-48345865	U87	brain:	n/a
43	chr11:48345815-48345865	ECC-1	luminal epithelium:	n/a
44	chr11:48345815-48345865	BE2_C	brain:	n/a
45	chr11:48374446-48374496	HCPEpiC	choroid plexus:	n/a
46	chr11:48345815-48345865	HL-60	blood:	n/a
47	chr11:48367974-48368024	HCT-116	colon:	n/a
48	chr11:48367974-48368024	AG09309	skin:	n/a
49	chr11:48345815-48345865	SK-N-SH_RA	brain:	n/a
50	chr11:48345815-48345865	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:48361908..48364233-chr11:48365831..48368223,2	MCF-7	breast:
2	chr11:48366878..48368914-chr11:48372533..48375413,2	MCF-7	breast:
3	chr11:48361908..48364233-chr11:48365831..48368223,2	MCF-7	breast:

No data

Variant related genes	Relation type
OR4C5	TF binding region
OR4C4P	TF binding region
OR4C3	TF binding region
OR4C5	CpG island
OR4C4P	CpG island
OR4C3	CpG island
ENSG00000197161	chromatin interactions

Extended variants
information (count: 4092 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:4092 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544515966	chr11:48336423-48336424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560966545	chr11:48336438-48336439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149245718	chr11:48336478-48336479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371071214	chr11:48336490-48336491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539957911	chr11:48336523-48336524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs61915345	chr11:48336527-48336528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539208750	chr11:48336561-48336562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117859718	chr11:48336566-48336567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79852718	chr11:48336645-48336646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185216137	chr11:48336646-48336647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567525007	chr11:48336698-48336699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144466551	chr11:48336703-48336704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190953903	chr11:48336772-48336773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534355787	chr11:48336773-48336774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78186554	chr11:48336841-48336842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183251899	chr11:48336852-48336853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539923211	chr11:48336858-48336859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556642636	chr11:48336869-48336870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576496522	chr11:48336886-48336887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538147518	chr11:48337014-48337015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148794439	chr11:48337041-48337042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188028983	chr11:48337075-48337076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191648311	chr11:48337079-48337080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11605627	chr11:48337132-48337133	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs11039676	chr11:48337188-48337189	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576559363	chr11:48337198-48337199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34754109	chr11:48337223-48337224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545488576	chr11:48337260-48337261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs61915346	chr11:48337264-48337265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371073201	chr11:48337283-48337284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182968281	chr11:48337291-48337292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531166480	chr11:48337296-48337297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548601751	chr11:48337304-48337305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117773074	chr11:48337366-48337367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527894997	chr11:48337397-48337398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142474307	chr11:48337424-48337425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147923863	chr11:48337431-48337432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539979532	chr11:48337440-48337441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12294937	chr11:48337466-48337467	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545158074	chr11:48337488-48337489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140103953	chr11:48337507-48337508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187616269	chr11:48337564-48337565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117005804	chr11:48337567-48337568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374864506	chr11:48337604-48337605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116574074	chr11:48337624-48337625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537763655	chr11:48337643-48337644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114995761	chr11:48337645-48337646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1601046	chr11:48337656-48337657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs545500654	chr11:48337688-48337689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11530214	chr11:48337696-48337697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
small cell lung cancer	20016488	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48336400-48337600	Enhancers	Stomach Mucosa	stomach
2	chr11:48337600-48341200	Weak transcription	Stomach Mucosa	stomach
3	chr11:48341200-48342600	Enhancers	Stomach Mucosa	stomach
4	chr11:48341400-48345800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr11:48341600-48341800	Bivalent Enhancer	Left Ventricle	heart
6	chr11:48341600-48342000	Bivalent Enhancer	Right Atrium	heart
7	chr11:48341600-48342000	Enhancers	Spleen	Spleen
8	chr11:48341800-48342000	Enhancers	Left Ventricle	heart
9	chr11:48342600-48344400	Weak transcription	Stomach Mucosa	stomach
10	chr11:48344400-48344800	Enhancers	Stomach Mucosa	stomach
11	chr11:48344800-48349800	Weak transcription	Stomach Mucosa	stomach
12	chr11:48346600-48346800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:48346600-48347000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr11:48346600-48347400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:48346600-48348600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:48346800-48347400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:48348800-48350000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:48350000-48355600	Weak transcription	Stomach Mucosa	stomach
19	chr11:48352400-48353400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr11:48352400-48353800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr11:48353000-48359800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr11:48355200-48363800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:48355600-48357000	Enhancers	Stomach Mucosa	stomach
24	chr11:48357000-48358000	Weak transcription	Stomach Mucosa	stomach
25	chr11:48358000-48358200	Enhancers	Stomach Mucosa	stomach
26	chr11:48362000-48362200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr11:48362400-48362800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:48362800-48363200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr11:48362800-48363200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:48362800-48363600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr11:48362800-48363800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:48363000-48363200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:48363000-48363400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:48363000-48363400	Active TSS	A549	lung
35	chr11:48363000-48363600	Active TSS	Hela-S3	cervix
36	chr11:48363000-48363800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr11:48363000-48363800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr11:48363200-48363600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr11:48363200-48363600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:48363200-48363600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr11:48363200-48363600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr11:48363200-48363600	Enhancers	Liver	Liver
43	chr11:48363200-48363600	Enhancers	Dnd41	blood
44	chr11:48363200-48363800	Enhancers	Primary T cells fromperipheralblood	blood
45	chr11:48363200-48366400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:48363600-48363800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr11:48363600-48363800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:48363600-48363800	Enhancers	Hela-S3	cervix
49	chr11:48363600-48366800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr11:48363600-48367000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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