Variant report

Variant	nsv521986
Chromosome Location	chr11:94364361-94369205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr11:94368099-94368610	K562	blood:	n/a	n/a
2	CTCF	chr11:94366952-94366978	Lung_OC	lung:	n/a	n/a
3	CTCF	chr11:94368280-94368430	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr11:94368320-94368470	Caco-2	colon:	n/a	n/a
5	CTCFL	chr11:94368346-94368481	K562	blood:	n/a	n/a
6	E2F6	chr11:94368275-94368431	K562	blood:	n/a	n/a
7	EP300	chr11:94368291-94368488	K562	blood:	n/a	n/a
8	EP300	chr11:94368458-94368536	K562	blood:	n/a	n/a
9	FOXA1	chr11:94365509-94365795	T-47D	breast:	n/a	n/a
10	GATA3	chr11:94365443-94365791	T-47D	breast:	n/a	n/a
11	GATA3	chr11:94365459-94365806	T-47D	breast:	n/a	n/a
12	HCFC1	chr11:94368323-94368452	K562	blood:	n/a	n/a
13	IRF1	chr11:94367285-94367287	K562	blood:	n/a	n/a
14	MAFK	chr11:94368342-94368375	K562	blood:	n/a	n/a
15	MAX	chr11:94368195-94368532	K562	blood:	n/a	n/a
16	MAX	chr11:94368237-94368465	K562	blood:	n/a	n/a
17	MAX	chr11:94368153-94368544	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr11:94368131-94368596	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr11:94368109-94368536	K562	blood:	n/a	n/a
20	MYC	chr11:94368198-94368521	K562	blood:	n/a	n/a
21	MYC	chr11:94368305-94368320	MCF10A-Er-Src	breast:	n/a	n/a
22	MYC	chr11:94368200-94368550	K562	blood:	n/a	n/a
23	NFYB	chr11:94368249-94368476	K562	blood:	n/a	n/a
24	NR2F2	chr11:94368286-94368613	K562	blood:	n/a	n/a
25	RCOR1	chr11:94368176-94368409	K562	blood:	n/a	n/a
26	RCOR1	chr11:94368282-94368435	K562	blood:	n/a	n/a
27	STAT3	chr11:94367103-94367173	MCF10A-Er-Src	breast:	n/a	n/a
28	TAL1	chr11:94368348-94368571	K562	blood:	n/a	n/a
29	TCF7L2	chr11:94365430-94365920	PANC-1	pancreas:	n/a	n/a
30	TCF7L2	chr11:94366936-94367316	PANC-1	pancreas:	n/a	n/a
31	YY1	chr11:94368249-94368448	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:94365316..94367825-chr11:94474013..94475767,2	MCF-7	breast:
2	chr11:94364584..94368044-chr11:94369243..94371898,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233536	TF binding region
ENSG00000233536	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs631413	chr11:94364361-94364362	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374678075	chr11:94364409-94364410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556491895	chr11:94364462-94364463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574511436	chr11:94364483-94364484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576453077	chr11:94364609-94364610	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541442334	chr11:94364621-94364622	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs7110865	chr11:94364637-94364638	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs147588373	chr11:94364656-94364657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs56927653	chr11:94364707-94364708	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546383505	chr11:94364721-94364722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73516322	chr11:94364723-94364724	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs531780233	chr11:94364768-94364769	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs371881834	chr11:94364792-94364793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs541539309	chr11:94364795-94364796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561093976	chr11:94364804-94364805	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201243228	chr11:94364823-94364824	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79942503	chr11:94364827-94364828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs34619323	chr11:94364828-94364829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs78753345	chr11:94364834-94364835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs187371244	chr11:94364847-94364848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs529303882	chr11:94364890-94364891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs192585116	chr11:94364912-94364913	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549937924	chr11:94364942-94364943	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs185026955	chr11:94364962-94364963	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs142647271	chr11:94365003-94365004	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs551894608	chr11:94365041-94365042	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374582484	chr11:94365098-94365099	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs60268618	chr11:94365108-94365109	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs538014447	chr11:94365241-94365242	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs556528659	chr11:94365244-94365245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs144103861	chr11:94365245-94365246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs535457923	chr11:94365249-94365250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs7130459	chr11:94365267-94365268	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs189090432	chr11:94365299-94365300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs78646310	chr11:94365350-94365351	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs77459109	chr11:94365351-94365352	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs77232112	chr11:94365352-94365353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs77718765	chr11:94365354-94365355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545620959	chr11:94365355-94365356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs557429057	chr11:94365371-94365372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs576258066	chr11:94365383-94365384	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532708331	chr11:94365401-94365402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs543595451	chr11:94365443-94365444	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs148669573	chr11:94365533-94365534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs141231881	chr11:94365577-94365578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541423418	chr11:94365578-94365579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs150747263	chr11:94365645-94365646	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533355819	chr11:94365670-94365671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551931442	chr11:94365674-94365675	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs76677015	chr11:94365683-94365684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94359800-94368200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:94363200-94367400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:94363600-94364400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr11:94363600-94368200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:94363800-94368000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:94363800-94368400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:94363800-94371800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:94364200-94369200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:94364400-94368000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:94367000-94367800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:94367800-94368000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr11:94367800-94368400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:94368000-94368400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:94368000-94368600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:94368000-94368600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr11:94368000-94374200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:94368200-94368400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr11:94368200-94368600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:94368200-94368600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:94368200-94368800	Enhancers	K562	blood
21	chr11:94368200-94370000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:94368400-94369600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:94368400-94371600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:94368400-94374000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:94368400-94374000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:94368600-94369600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:94368600-94371200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:94368600-94371200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:94368600-94371800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:94368800-94369200	Weak transcription	K562	blood
31	chr11:94369200-94370000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:94369200-94371800	Enhancers	K562	blood

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