Variant report

Variant	nsv975203
Chromosome Location	chr11:74786322-74799744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:130)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:130 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:74797336-74797572	K562	blood:	n/a	n/a
2	ARID3A	chr11:74797976-74798342	K562	blood:	n/a	n/a
3	ARID3A	chr11:74798550-74799308	K562	blood:	n/a	n/a
4	ATF3	chr11:74789276-74789456	K562	blood:	n/a	n/a
5	BHLHE40	chr11:74798454-74798668	K562	blood:	n/a	n/a
6	CEBPB	chr11:74795904-74795972	K562	blood:	n/a	n/a
7	CTCF	chr11:74798560-74798710	HFF-Myc	foreskin:	n/a	n/a
8	CTCF	chr11:74798459-74798614	HepG2	liver:	n/a	n/a
9	CTCF	chr11:74790780-74790930	GM12874	blood:	n/a	n/a
10	CTCF	chr11:74798420-74798570	GM12866	blood:	n/a	n/a
11	CTCF	chr11:74798340-74798490	HFF-Myc	foreskin:	n/a	n/a
12	CTCF	chr11:74798420-74798570	HMF	breast:	n/a	n/a
13	CTCF	chr11:74798460-74798610	AG04449	skin:	n/a	n/a
14	CTCF	chr11:74790781-74790821	GM10248	blood:	n/a	n/a
15	CTCF	chr11:74798600-74798750	HCM	heart:	n/a	n/a
16	CTCF	chr11:74798460-74798610	HepG2	liver:	n/a	n/a
17	CTCF	chr11:74798540-74798690	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr11:74798480-74798662	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr11:74798500-74798650	GM12864	blood:	n/a	n/a
20	CTCF	chr11:74798480-74798630	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr11:74798416-74798715	K562	blood:	n/a	n/a
22	CTCF	chr11:74798451-74798629	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr11:74798500-74798650	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr11:74798460-74798610	K562	blood:	n/a	n/a
25	CTCF	chr11:74798450-74798687	K562	blood:	n/a	n/a
26	CTCF	chr11:74798480-74798630	GM12864	blood:	n/a	n/a
27	CTCF	chr11:74790660-74790946	GM12878	blood:	n/a	n/a
28	CTCF	chr11:74798420-74798570	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr11:74798359-74798687	K562	blood:	n/a	n/a
30	CTCF	chr11:74798420-74798570	GM12875	blood:	n/a	n/a
31	CTCF	chr11:74798521-74798599	MCF-7	breast:	n/a	n/a
32	CTCF	chr11:74798507-74798622	ProgFib	skin:	n/a	n/a
33	CTCF	chr11:74798415-74798872	K562	blood:	n/a	n/a
34	CTCF	chr11:74790720-74790870	GM12873	blood:	n/a	n/a
35	CTCF	chr11:74798420-74798570	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr11:74790653-74790784	GM12878	blood:	n/a	n/a
37	CTCF	chr11:74798500-74798650	HepG2	liver:	n/a	n/a
38	CTCF	chr11:74790880-74791030	GM12874	blood:	n/a	n/a
39	CTCF	chr11:74798341-74798748	K562	blood:	n/a	n/a
40	CTCF	chr11:74798480-74798630	K562	blood:	n/a	n/a
41	CTCF	chr11:74798700-74798850	HEEpiC	esophagus:	n/a	n/a
42	CTCF	chr11:74798460-74798610	HCFaa	heart:	n/a	n/a
43	CTCFL	chr11:74798445-74798612	K562	blood:	n/a	n/a
44	CUX1	chr11:74796931-74797019	K562	blood:	n/a	n/a
45	E2F4	chr11:74793837-74793907	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F6	chr11:74798459-74798610	K562	blood:	n/a	n/a
47	EBF1	chr11:74788479-74788679	GM12878	blood:	n/a	chr11:74788517-74788528
48	EP300	chr11:74798507-74799295	K562	blood:	n/a	n/a
49	FAM48A	chr11:74787533-74787729	GM12878	blood:	n/a	n/a
50	FOS	chr11:74789399-74789740	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:74781895..74783678-chr11:74787128..74789596,2	K562	blood:
2	chr11:74795794..74798553-chr11:74813017..74814712,2	K562	blood:
3	chr11:74775844..74777522-chr11:74789368..74791115,2	K562	blood:
4	chr11:74798344..74800296-chr11:74811269..74812884,2	K562	blood:
5	chr11:74784418..74786926-chr11:74788706..74790951,2	K562	blood:
6	chr11:74784418..74786926-chr11:74788706..74790951,2	K562	blood:
7	chr11:74775986..74778736-chr11:74786345..74788649,2	K562	blood:
8	chr11:74796178..74800020-chr11:74800917..74805286,4	K562	blood:

No data

Variant related genes	Relation type
NPM1P50	TF binding region
OR2AT2P	TF binding region
ENSG00000234611	chromatin interactions
ENSG00000137491	chromatin interactions

Extended variants
information (count: 472 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187946448	chr11:74786327-74786328	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs112001106	chr11:74786337-74786338	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs571669702	chr11:74786348-74786349	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs540643776	chr11:74786359-74786360	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs530732827	chr11:74786366-74786367	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs191899571	chr11:74786393-74786394	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs542127536	chr11:74786477-74786478	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs543192491	chr11:74786480-74786481	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs114715451	chr11:74786503-74786504	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs529474746	chr11:74786512-74786513	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs12283310	chr11:74786534-74786535	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs76307692	chr11:74786548-74786549	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs528822671	chr11:74786602-74786603	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs184369663	chr11:74786645-74786646	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs551787753	chr11:74786660-74786661	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs571595665	chr11:74786689-74786690	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs537551588	chr11:74786703-74786704	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs550801628	chr11:74786713-74786714	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs569789923	chr11:74786730-74786731	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs535280808	chr11:74786799-74786800	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs555210835	chr11:74786895-74786896	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs563415583	chr11:74786989-74786990	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs189434750	chr11:74787001-74787002	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs78021936	chr11:74787058-74787059	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs555538053	chr11:74787076-74787077	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs370733175	chr11:74787077-74787078	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs373523678	chr11:74787116-74787117	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs560151164	chr11:74787151-74787152	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs112057714	chr11:74787153-74787154	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs572287392	chr11:74787254-74787255	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs563255839	chr11:74787257-74787258	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs543923496	chr11:74787272-74787273	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs552421530	chr11:74787273-74787274	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs574149530	chr11:74787277-74787278	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs368057394	chr11:74787278-74787279	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs372799152	chr11:74787279-74787280	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs560026168	chr11:74787281-74787282	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs528787917	chr11:74787284-74787285	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs527566831	chr11:74787285-74787286	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs181488060	chr11:74787286-74787287	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs530818138	chr11:74787287-74787288	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs570393864	chr11:74787335-74787336	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs551017671	chr11:74787352-74787353	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs116799696	chr11:74787428-74787429	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs7119732	chr11:74787430-74787431	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs142142100	chr11:74787579-74787580	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs79330402	chr11:74787606-74787607	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs529634420	chr11:74787626-74787627	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs577330644	chr11:74787629-74787630	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs79700739	chr11:74787679-74787680	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74785000-74787000	Weak transcription	K562	blood
2	chr11:74785600-74788200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:74787000-74788600	Strong transcription	K562	blood
4	chr11:74788200-74788400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:74788200-74788400	Bivalent Enhancer	NH-A	brain
6	chr11:74788400-74788800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:74788400-74788800	Enhancers	Adipose Nuclei	Adipose
8	chr11:74788600-74790000	Enhancers	Osteobl	bone
9	chr11:74788600-74794000	Weak transcription	K562	blood
10	chr11:74788800-74789000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:74789000-74793800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:74790000-74790200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:74790600-74793600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:74793600-74794400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:74793800-74794200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:74794000-74794600	Enhancers	K562	blood
17	chr11:74794200-74802000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:74794600-74797600	Weak transcription	K562	blood
19	chr11:74797600-74799400	Genic enhancers	K562	blood
20	chr11:74799400-74801800	Strong transcription	K562	blood

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