Variant report

Variant	nsv555442
Chromosome Location	chr11:74026090-74028944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
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	CBX3	chr11:74027858-74028188	K562	blood:	n/a	n/a
2	E2F4	chr11:74028188-74028348	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA3	chr11:74027870-74028540	SK-N-SH	brain:	n/a	n/a
4	KAP1	chr11:74027796-74028173	K562	blood:	n/a	n/a
5	POLR2A	chr11:74026301-74026378	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:74026494-74026519	GM12878	blood:	n/a	n/a
7	SETDB1	chr11:74027797-74028492	U2OS	brain:	n/a	n/a
8	ZNF143	chr11:74027970-74028060	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:74026371-74026421	Jurkat	blood:	n/a
2	chr11:74026371-74026421	ProgFib	skin:	n/a
3	chr11:74026371-74026421	HCT-116	colon:	n/a
4	chr11:74026371-74026421	PrEC	prostate:	n/a
5	chr11:74026371-74026421	BE2_C	brain:	n/a
6	chr11:74026371-74026421	AG04450	lung:	fetal
7	chr11:74026371-74026421	MCF10A-Er-Src	breast:	n/a
8	chr11:74026371-74026421	GM12891	blood:	n/a
9	chr11:74026371-74026421	HL-60	blood:	n/a
10	chr11:74026371-74026421	SK-N-SH_RA	brain:	n/a
11	chr11:74026371-74026421	HAEpiC	amniotic membrane:	n/a
12	chr11:74026371-74026421	NT2-D1	testis:	n/a
13	chr11:74026371-74026421	ovcar-3	ovarian:	n/a
14	chr11:74026371-74026421	GM19239	blood:	n/a
15	chr11:74026371-74026421	GM12878	blood:	n/a
16	chr11:74026371-74026421	MCF-7	breast:	n/a
17	chr11:74026371-74026421	ECC-1	luminal epithelium:	n/a
18	chr11:74026371-74026421	IMR90	lung:	fetal
19	chr11:74026371-74026421	HUVEC	blood vessel:	n/a
20	chr11:74026371-74026421	T-47D	breast:	n/a
21	chr11:74026371-74026421	AG10803	skin:	n/a
22	chr11:74026371-74026421	AG09309	skin:	n/a
23	chr11:74026371-74026421	Hela-S3	cervix:	n/a
24	chr11:74026371-74026421	HCF	heart:	n/a
25	chr11:74026371-74026421	NHDF-neo	bronchial:	n/a
26	chr11:74026371-74026421	HPAEpiC	pulmonary alveolar:	n/a
27	chr11:74026371-74026421	Caco-2	colon:	n/a
28	chr11:74026371-74026421	A549	lung:	n/a
29	chr11:74026371-74026421	PANC-1	pancreas:	n/a
30	chr11:74026371-74026421	GM12892	blood:	n/a
31	chr11:74026371-74026421	K562	blood:	n/a
32	chr11:74026371-74026421	SAEC	small airway:	n/a
33	chr11:74026371-74026421	AoSMC	blood vessel:	n/a
34	chr11:74026371-74026421	BJ	skin:	n/a
35	chr11:74026371-74026421	NH-A	brain:	n/a
36	chr11:74026371-74026421	AG04449	skin:	fetal
37	chr11:74026371-74026421	H1-hESC	embryonic stem cell:	embryo
38	chr11:74026371-74026421	HNPCEpiC	eye:	n/a
39	chr11:74026371-74026421	HRPEpiC	eye:	n/a
40	chr11:74026371-74026421	RPTEC	kidney:	n/a
41	chr11:74026371-74026421	Hepatocyte	liver:	n/a
42	chr11:74026371-74026421	HMEC	breast:	n/a
43	chr11:74026371-74026421	NHBE	bronchial:	n/a
44	chr11:74026371-74026421	HEK293	kidney:	embryo
45	chr11:74026371-74026421	LNCaP	prostate:	n/a
46	chr11:74026371-74026421	HRE	kidney:	n/a
47	chr11:74026371-74026421	HRCEpiC	kidney:	n/a
48	chr11:74026371-74026421	GM06990	blood:	n/a
49	chr11:74026371-74026421	HCPEpiC	choroid plexus:	n/a
50	chr11:74026371-74026421	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74020783..74024598-chr11:74028105..74031169,3	MCF-7	breast:

No data

Variant related genes	Relation type
P4HA3	TF binding region
P4HA3	CpG island
ENSG00000149380	chromatin interactions
ENSG00000246211	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77089969	chr11:74026107-74026108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554456166	chr11:74026135-74026136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577355367	chr11:74026251-74026252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554104829	chr11:74026257-74026258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564612798	chr11:74026310-74026311	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs559198769	chr11:74026316-74026317	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs572372700	chr11:74026331-74026332	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs536729541	chr11:74026383-74026384	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs575029828	chr11:74026426-74026427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543917688	chr11:74026432-74026433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150973049	chr11:74026476-74026477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529694442	chr11:74026518-74026519	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs183068491	chr11:74026552-74026553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560438804	chr11:74026562-74026563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532204082	chr11:74026627-74026628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573875747	chr11:74026663-74026664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188012168	chr11:74026664-74026665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192989394	chr11:74026667-74026668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs498955	chr11:74026670-74026671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116492949	chr11:74026679-74026680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140777665	chr11:74026729-74026730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554164933	chr11:74026837-74026838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57828280	chr11:74026888-74026889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs577974027	chr11:74026905-74026906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73550781	chr11:74026908-74026909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs76274080	chr11:74026910-74026911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576250228	chr11:74026941-74026942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543856335	chr11:74026999-74027000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544997090	chr11:74027070-74027071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560071718	chr11:74027084-74027085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527321409	chr11:74027157-74027158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560658688	chr11:74027338-74027339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35637244	chr11:74027346-74027347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560873789	chr11:74027352-74027353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370843154	chr11:74027367-74027368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150106474	chr11:74027403-74027404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540271028	chr11:74027415-74027416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549055488	chr11:74027416-74027417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73550782	chr11:74027432-74027433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs532471360	chr11:74027505-74027506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115501518	chr11:74027525-74027526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114416749	chr11:74027540-74027541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12419385	chr11:74027570-74027571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs11236052	chr11:74027576-74027577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs186891255	chr11:74027593-74027594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533916738	chr11:74027618-74027619	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs12225446	chr11:74027661-74027662	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570772277	chr11:74027704-74027705	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs540096939	chr11:74027831-74027832	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556442002	chr11:74027874-74027875	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74023000-74028600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:74023200-74027600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:74023200-74036800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:74023400-74028600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:74023600-74027800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:74027400-74027600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:74027600-74027800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
8	chr11:74027600-74028200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:74027800-74028200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:74027800-74028200	ZNF genes & repeats	NHDF-Ad	bronchial
11	chr11:74027800-74029400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr11:74028000-74031000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:74028200-74028400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:74028200-74028400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:74028200-74028600	Weak transcription	NHDF-Ad	bronchial
16	chr11:74028200-74029600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:74028400-74030400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:74028400-74030800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:74028400-74031000	Enhancers	Osteobl	bone
20	chr11:74028600-74028800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:74028600-74030200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:74028600-74030800	Enhancers	NHDF-Ad	bronchial
23	chr11:74028600-74031000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:74028600-74031800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:74028800-74029200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:74028800-74030800	Enhancers	HSMMtube	muscle
27	chr11:74028800-74038800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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