Variant report

Variant	nsv518763
Chromosome Location	chr11:75875037-75890695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75881616..75884148-chr11:75897760..75900480,2	MCF-7	breast:
2	chr11:75872410..75875308-chr11:75879381..75883436,3	K562	blood:
3	chr11:75886513..75888497-chr11:75907057..75909283,2	MCF-7	breast:
4	chr11:75887769..75890550-chr11:75903812..75906303,2	K562	blood:
5	chr11:75888382..75891358-chr11:75893738..75896231,2	MCF-7	breast:
6	chr11:75871119..75872885-chr11:75874380..75876840,2	MCF-7	breast:
7	chr11:75879470..75881382-chr11:75903439..75906024,2	MCF-7	breast:
8	chr11:75886596..75888940-chr11:75889618..75892110,2	MCF-7	breast:
9	chr11:75526830..75528448-chr11:75885826..75888721,2	K562	blood:
10	chr11:75878808..75880535-chr11:75885544..75887523,2	K562	blood:
11	chr11:75874099..75876373-chr11:75881253..75883763,2	MCF-7	breast:
12	chr11:75865596..75868388-chr11:75876534..75879243,2	K562	blood:
13	chr11:75872410..75875308-chr11:75879381..75883436,3	K562	blood:
14	chr11:75874099..75876373-chr11:75881253..75883763,2	MCF-7	breast:
15	chr11:75886596..75888940-chr11:75889618..75892110,2	MCF-7	breast:
16	chr11:75877596..75879712-chr11:75888366..75889930,2	K562	blood:
17	chr11:75878808..75880535-chr11:75885544..75887523,2	K562	blood:
18	chr11:75877596..75879712-chr11:75888366..75889930,2	K562	blood:

No data

Extended variants
information (count: 802 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:802 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7940138	chr11:75875037-75875038	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572164343	chr11:75875063-75875064	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs7940150	chr11:75875069-75875070	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs116975584	chr11:75875072-75875073	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs535701919	chr11:75875149-75875150	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs555709936	chr11:75875205-75875206	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs148866860	chr11:75875210-75875211	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs541253908	chr11:75875217-75875218	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs114244801	chr11:75875227-75875228	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs115154622	chr11:75875235-75875236	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs146988627	chr11:75875240-75875241	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs563246053	chr11:75875280-75875281	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs7929826	chr11:75875309-75875310	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs74505893	chr11:75875316-75875317	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs543141997	chr11:75875439-75875440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113595020	chr11:75875443-75875444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371631040	chr11:75875444-75875445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558955908	chr11:75875445-75875446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374164366	chr11:75875446-75875447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528642628	chr11:75875454-75875455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551987917	chr11:75875457-75875458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571643850	chr11:75875461-75875462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28410164	chr11:75875482-75875483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531080927	chr11:75875492-75875493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368311663	chr11:75875496-75875497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138587224	chr11:75875512-75875513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373226529	chr11:75875513-75875514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199789121	chr11:75875514-75875515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74194720	chr11:75875524-75875525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536015783	chr11:75875527-75875528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199831622	chr11:75875543-75875544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377151235	chr11:75875544-75875545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564513170	chr11:75875563-75875564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76149433	chr11:75875567-75875568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77822376	chr11:75875569-75875570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79504165	chr11:75875576-75875577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533740664	chr11:75875581-75875582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77197574	chr11:75875583-75875584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536661819	chr11:75875587-75875588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182260440	chr11:75875590-75875591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200824455	chr11:75875591-75875592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566012264	chr11:75875593-75875594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372319868	chr11:75875601-75875602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76900538	chr11:75875602-75875603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75100864	chr11:75875609-75875610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74396499	chr11:75875624-75875625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534801160	chr11:75875625-75875626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111771267	chr11:75875641-75875642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74435948	chr11:75875647-75875648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372009014	chr11:75875649-75875650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Melanoma	18172304	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
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75865000-75876000	Weak transcription	Spleen	Spleen
2	chr11:75867800-75875200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr11:75873600-75882200	Weak transcription	Right Atrium	heart
4	chr11:75873800-75876400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:75873800-75881600	Weak transcription	Pancreas	Pancrea
6	chr11:75874800-75876000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:75874800-75878600	Weak transcription	Adipose Nuclei	Adipose
8	chr11:75875200-75875400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:75875800-75876000	Enhancers	Esophagus	oesophagus
10	chr11:75876000-75876400	Weak transcription	Esophagus	oesophagus
11	chr11:75876000-75876600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:75876000-75876600	Enhancers	Spleen	Spleen
13	chr11:75876200-75876400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:75876400-75876600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr11:75876400-75876600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:75876400-75876600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:75876400-75876600	ZNF genes & repeats	Esophagus	oesophagus
18	chr11:75876600-75876800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr11:75876600-75877200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:75876600-75878200	Enhancers	GM12878-XiMat	blood
21	chr11:75876600-75880600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:75876600-75884400	Weak transcription	Esophagus	oesophagus
23	chr11:75877200-75877400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr11:75877200-75877600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:75877400-75877600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:75877400-75877600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr11:75877400-75877800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
28	chr11:75877400-75878000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:75877600-75877800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
30	chr11:75877600-75880600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:75877600-75887200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:75878200-75878800	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr11:75878200-75879600	Weak transcription	GM12878-XiMat	blood
34	chr11:75878400-75881000	Enhancers	Placenta	Placenta
35	chr11:75878400-75882600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr11:75878600-75878800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:75878600-75879000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:75878600-75879000	Bivalent Enhancer	Fetal Stomach	stomach
39	chr11:75878600-75880200	Enhancers	Adipose Nuclei	Adipose
40	chr11:75878800-75879000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:75878800-75879800	Enhancers	Fetal Muscle Leg	muscle
42	chr11:75879400-75879800	Bivalent Enhancer	HepG2	liver
43	chr11:75879400-75880000	Enhancers	K562	blood
44	chr11:75879600-75881200	Enhancers	GM12878-XiMat	blood
45	chr11:75879800-75886600	Weak transcription	Fetal Muscle Leg	muscle
46	chr11:75880000-75880400	Bivalent Enhancer	HepG2	liver
47	chr11:75880000-75880600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:75880200-75881000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:75880400-75881000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:75880400-75881000	Flanking Bivalent TSS/Enh	HepG2	liver

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