Variant report

Variant	nsv975985
Chromosome Location	chr11:120487581-120492232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr11:120489120-120489122	H1-hESC	embryonic stem cell:	n/a	n/a
2	KAP1	chr11:120488984-120489595	HEK293	kidney:	n/a	n/a
3	KAP1	chr11:120489156-120489599	U2OS	brain:	n/a	n/a
4	POLR2A	chr11:120491795-120492330	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr11:120487898-120488007	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr11:120491819-120492610	H1-neurons	neurons:	n/a	n/a
7	SETDB1	chr11:120488632-120489566	U2OS	brain:	n/a	n/a
8	ZNF143	chr11:120489229-120489447	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120486491..120489401-chr11:120490672..120493068,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM29-5	chr11:120490643-120490976	NONHSAT024731

No data

Variant related genes	Relation type
TCEB1P22	TF binding region
ENSG00000255006	chromatin interactions

Extended variants
information (count: 177 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:177 , 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	rs570155984	chr11:120487618-120487619	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs562796598	chr11:120487655-120487656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs183865268	chr11:120487683-120487684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548256665	chr11:120487700-120487701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs376209966	chr11:120487759-120487760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs370917642	chr11:120487769-120487770	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527826875	chr11:120487802-120487803	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552629911	chr11:120487803-120487804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571791640	chr11:120487809-120487810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571475363	chr11:120487830-120487831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs538789759	chr11:120487838-120487839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs1317176	chr11:120487880-120487881	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs115540542	chr11:120487886-120487887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs114566063	chr11:120487891-120487892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs555456141	chr11:120487892-120487893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs17124081	chr11:120487899-120487900	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572794402	chr11:120487919-120487920	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs149576108	chr11:120488030-120488031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs531909313	chr11:120488044-120488045	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558583353	chr11:120488051-120488052	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201751194	chr11:120488053-120488054	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs541331859	chr11:120488058-120488059	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs564034186	chr11:120488059-120488060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs577027360	chr11:120488080-120488081	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs553533358	chr11:120488086-120488087	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73574442	chr11:120488113-120488114	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs73002644	chr11:120488117-120488118	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs574818697	chr11:120488137-120488138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188142982	chr11:120488163-120488164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs36116416	chr11:120488168-120488169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560323780	chr11:120488174-120488175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370808114	chr11:120488180-120488181	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545187192	chr11:120488185-120488186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181298129	chr11:120488259-120488260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs184175568	chr11:120488260-120488261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532533274	chr11:120488277-120488278	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs10892588	chr11:120488347-120488348	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565786872	chr11:120488368-120488369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190158837	chr11:120488416-120488417	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs368355630	chr11:120488433-120488434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181779206	chr11:120488434-120488435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566354271	chr11:120488468-120488469	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs7101412	chr11:120488476-120488477	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs569983601	chr11:120488499-120488500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs558254628	chr11:120488500-120488501	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376311158	chr11:120488605-120488606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187325096	chr11:120488613-120488614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs556383922	chr11:120488692-120488693	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192386930	chr11:120488709-120488710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542165949	chr11:120488711-120488712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Emanuel syndrome	21549014	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Ovarian neoplasms	16753589	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Retinoblastoma	22278416	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120480200-120487600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:120480200-120489000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:120484800-120507400	Weak transcription	Right Atrium	heart
4	chr11:120485000-120489200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:120485400-120498200	Weak transcription	Ovary	ovary
6	chr11:120488800-120490000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:120489000-120489600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:120489000-120490000	ZNF genes & repeats	Fetal Intestine Small	intestine
9	chr11:120489200-120489400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr11:120489200-120489800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:120489600-120491000	Enhancers	Fetal Intestine Large	intestine
12	chr11:120489600-120500200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:120489800-120499600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:120490000-120490200	Weak transcription	Fetal Intestine Small	intestine
15	chr11:120490000-120500200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:120490200-120491200	Enhancers	Fetal Intestine Small	intestine
17	chr11:120491000-120493000	Weak transcription	Fetal Intestine Large	intestine
18	chr11:120491200-120498000	Weak transcription	Fetal Intestine Small	intestine
19	chr11:120491600-120494000	Enhancers	Fetal Lung	lung
20	chr11:120491800-120492000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:120492000-120493200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:120492200-120492400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:120492200-120493800	Enhancers	Fetal Stomach	stomach

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