Variant report

Variant	nsv520466
Chromosome Location	chr11:86344677-86346940
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:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86343699..86345284-chr11:86380600..86383529,2	MCF-7	breast:
2	chr11:86346528..86348844-chr11:86457417..86460033,2	MCF-7	breast:
3	chr11:86342318..86349364-chr11:86509780..86514935,13	MCF-7	breast:
4	chr11:86343672..86346376-chr11:86522786..86524329,2	MCF-7	breast:
5	chr11:86336049..86341479-chr11:86341893..86346875,7	MCF-7	breast:
6	chr11:86346719..86349845-chr11:86488350..86491309,3	MCF-7	breast:
7	chr11:86346931..86348869-chr11:86351616..86354128,2	K562	blood:
8	chr11:86341794..86343569-chr11:86345090..86348008,2	MCF-7	breast:
9	chr11:86345410..86347094-chr11:86347295..86350272,2	MCF-7	breast:
10	chr11:86345451..86347957-chr11:86512981..86515684,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRSS23-4	chr11:86346666-86346716	l_530_chr11:86344324-86389623_testes
2	lnc-PRSS23-4	chr11:86344737-86344950	l_530_chr11:86344324-86389623_testes

No data

Variant related genes	Relation type
ENSG00000151376	chromatin interactions
ENSG00000150687	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1938928	chr11:86344677-86344678	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs1938927	chr11:86344729-86344730	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs139875781	chr11:86344752-86344753	Weak transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs113163130	chr11:86344753-86344754	Weak transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs1938926	chr11:86344768-86344769	Weak transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs571840252	chr11:86344790-86344791	Weak transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs1938925	chr11:86344838-86344839	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs552649561	chr11:86344848-86344849	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs115084576	chr11:86344900-86344901	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs80230078	chr11:86344982-86344983	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs555484000	chr11:86344989-86344990	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs79082958	chr11:86345013-86345014	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs12575285	chr11:86345027-86345028	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188654542	chr11:86345060-86345061	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs722157	chr11:86345083-86345084	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs540804115	chr11:86345090-86345091	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs540623647	chr11:86345109-86345110	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs722158	chr11:86345131-86345132	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs532612418	chr11:86345142-86345143	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs529235917	chr11:86345150-86345151	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs563065806	chr11:86345168-86345169	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs146343352	chr11:86345169-86345170	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs549095265	chr11:86345181-86345182	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs562639619	chr11:86345212-86345213	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs200787527	chr11:86345222-86345223	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs181177565	chr11:86345245-86345246	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs531976379	chr11:86345265-86345266	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs185220634	chr11:86345278-86345279	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs189548727	chr11:86345306-86345307	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs78109540	chr11:86345365-86345366	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs1938924	chr11:86345413-86345414	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs182128319	chr11:86345421-86345422	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs535417497	chr11:86345470-86345471	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555544927	chr11:86345485-86345486	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372264594	chr11:86345496-86345497	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs76584150	chr11:86345508-86345509	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs538052884	chr11:86345516-86345517	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs187266753	chr11:86345521-86345522	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs577885825	chr11:86345529-86345530	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540194344	chr11:86345666-86345667	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs559993989	chr11:86345668-86345669	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549079783	chr11:86345722-86345723	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542604975	chr11:86345726-86345727	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs58002674	chr11:86345733-86345734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs550372554	chr11:86345734-86345735	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs398016981	chr11:86345740-86345741	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200885588	chr11:86345742-86345743	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs144361760	chr11:86345829-86345830	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs531710798	chr11:86345862-86345863	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531667711	chr11:86345894-86345895	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	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	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	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
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86331000-86346200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:86333200-86349800	Weak transcription	Esophagus	oesophagus
3	chr11:86335600-86345200	Enhancers	NHDF-Ad	bronchial
4	chr11:86336000-86348000	Weak transcription	Fetal Intestine Small	intestine
5	chr11:86339200-86349200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:86340000-86357200	Weak transcription	Fetal Brain Female	brain
7	chr11:86341000-86347400	Weak transcription	Fetal Kidney	kidney
8	chr11:86341000-86349000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:86341000-86355400	Weak transcription	Adipose Nuclei	Adipose
10	chr11:86341600-86358800	Weak transcription	Brain Anterior Caudate	brain
11	chr11:86342000-86349200	Weak transcription	Fetal Heart	heart
12	chr11:86342200-86348400	Weak transcription	Left Ventricle	heart
13	chr11:86342200-86348400	Weak transcription	Right Ventricle	heart
14	chr11:86342200-86348800	Weak transcription	Brain Angular Gyrus	brain
15	chr11:86342200-86351400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:86342200-86353200	Weak transcription	Aorta	Aorta
17	chr11:86342200-86356400	Weak transcription	Fetal Stomach	stomach
18	chr11:86342600-86347400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:86343000-86344800	Enhancers	NHLF	lung
20	chr11:86343000-86344800	Enhancers	Osteobl	bone
21	chr11:86343200-86344800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:86343200-86344800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:86343200-86344800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:86343200-86344800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:86343200-86344800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:86343200-86344800	Enhancers	HMEC	breast
27	chr11:86343200-86344800	Enhancers	NH-A	brain
28	chr11:86343200-86344800	Enhancers	NHEK	skin
29	chr11:86343200-86345000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:86343200-86345000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:86343200-86345000	Enhancers	HUVEC	blood vessel
32	chr11:86343200-86345200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:86343200-86345200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr11:86343200-86345200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr11:86343200-86345400	Enhancers	HSMM	muscle
36	chr11:86343400-86344800	Enhancers	HSMMtube	muscle
37	chr11:86343600-86344800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr11:86343800-86345400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:86343800-86350000	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:86344000-86344800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:86344000-86344800	Enhancers	Hela-S3	cervix
42	chr11:86344000-86345400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:86344000-86373800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:86344200-86346000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:86344200-86346200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:86344200-86352800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:86344400-86345000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:86344400-86345600	Enhancers	A549	lung
49	chr11:86344400-86347000	Weak transcription	Ovary	ovary
50	chr11:86344400-86348400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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