Variant report

Variant	nsv523057
Chromosome Location	chr11:45174530-45181682
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45176255..45180138-chr11:45180420..45184771,5	MCF-7	breast:
2	chr11:45166402..45169959-chr11:45170699..45175813,6	MCF-7	breast:
3	chr11:45176125..45178660-chr11:45202397..45204482,2	MCF-7	breast:
4	chr11:45173610..45176134-chr11:45184836..45187202,2	K562	blood:
5	chr11:45173226..45176543-chr11:45176880..45179156,4	K562	blood:
6	chr11:45175178..45177497-chr11:45190478..45192901,2	MCF-7	breast:
7	chr11:45176255..45180138-chr11:45180420..45184771,5	MCF-7	breast:
8	chr11:45168840..45171324-chr11:45179427..45182574,4	K562	blood:
9	chr11:45164428..45170441-chr11:45176063..45179885,12	MCF-7	breast:
10	chr11:45179374..45181360-chr11:45184809..45187751,2	K562	blood:
11	chr11:45178718..45181474-chr11:45186088..45187942,2	K562	blood:
12	chr11:45173226..45176543-chr11:45176880..45179156,4	K562	blood:
13	chr11:45176699..45178353-chr11:45180660..45182490,2	K562	blood:
14	chr11:45175116..45179672-chr11:45200428..45203177,5	MCF-7	breast:
15	chr11:45166948..45170773-chr11:45176737..45181280,4	K562	blood:
16	chr11:45176699..45178353-chr11:45180660..45182490,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000019485	chromatin interactions

Extended variants
information (count: 271 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1487721	chr11:45174530-45174531	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534595241	chr11:45174536-45174537	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576489087	chr11:45174551-45174552	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs116816527	chr11:45174576-45174577	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs184417611	chr11:45174594-45174595	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs189536372	chr11:45174600-45174601	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374820811	chr11:45174615-45174616	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554042113	chr11:45174619-45174620	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs111784526	chr11:45174626-45174627	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs367845603	chr11:45174663-45174664	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181840047	chr11:45174676-45174677	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs146061505	chr11:45174699-45174700	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545399357	chr11:45174714-45174715	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs115246391	chr11:45174743-45174744	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs371993738	chr11:45174745-45174746	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548006704	chr11:45174755-45174756	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375368843	chr11:45174787-45174788	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568229859	chr11:45174795-45174796	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs76669823	chr11:45174798-45174799	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs527497698	chr11:45174805-45174806	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75896672	chr11:45174864-45174865	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs146717657	chr11:45174867-45174868	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539801061	chr11:45174870-45174871	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547702493	chr11:45174875-45174876	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs556509334	chr11:45174898-45174899	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs569999605	chr11:45174899-45174900	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs7109943	chr11:45174904-45174905	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543180534	chr11:45174934-45174935	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs116488496	chr11:45174964-45174965	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs187241249	chr11:45174972-45174973	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs139162690	chr11:45174992-45174993	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs184534128	chr11:45175010-45175011	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs371857701	chr11:45175021-45175022	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs561232544	chr11:45175024-45175025	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs577926756	chr11:45175025-45175026	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543803908	chr11:45175078-45175079	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs116526076	chr11:45175095-45175096	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs575986096	chr11:45175102-45175103	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs74724655	chr11:45175146-45175147	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561651138	chr11:45175160-45175161	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs527433991	chr11:45175179-45175180	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547621118	chr11:45175184-45175185	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs117871118	chr11:45175206-45175207	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12418341	chr11:45175207-45175208	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs533004059	chr11:45175210-45175211	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs533259651	chr11:45175216-45175217	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549837791	chr11:45175228-45175229	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570019473	chr11:45175243-45175244	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549892157	chr11:45175246-45175247	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188899574	chr11:45175247-45175248	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45169400-45181600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:45169600-45176400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:45169800-45188000	Weak transcription	Primary T cells from cord blood	blood
4	chr11:45170000-45175000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:45170000-45176600	Weak transcription	Esophagus	oesophagus
6	chr11:45170000-45177800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:45170000-45178800	Weak transcription	Fetal Kidney	kidney
8	chr11:45170000-45179000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:45170000-45179200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:45170000-45179400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:45170000-45190000	Weak transcription	Primary B cells from cord blood	blood
12	chr11:45170200-45175200	Weak transcription	Aorta	Aorta
13	chr11:45170200-45176200	Weak transcription	Fetal Heart	heart
14	chr11:45170200-45176200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:45170200-45176200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:45170200-45176400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:45170200-45178400	Weak transcription	Fetal Thymus	thymus
18	chr11:45170200-45178800	Weak transcription	Brain Substantia Nigra	brain
19	chr11:45170200-45179200	Weak transcription	Colonic Mucosa	Colon
20	chr11:45170200-45179400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:45170200-45179400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:45170400-45175000	Weak transcription	Right Atrium	heart
23	chr11:45170400-45176000	Weak transcription	Fetal Lung	lung
24	chr11:45170400-45176000	Weak transcription	Left Ventricle	heart
25	chr11:45170400-45176200	Weak transcription	Brain Anterior Caudate	brain
26	chr11:45170400-45176200	Weak transcription	Brain Hippocampus Middle	brain
27	chr11:45170400-45176400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:45170400-45176400	Weak transcription	Fetal Intestine Large	intestine
29	chr11:45170400-45178800	Weak transcription	Brain Angular Gyrus	brain
30	chr11:45170400-45179000	Weak transcription	Brain Germinal Matrix	brain
31	chr11:45170400-45179600	Weak transcription	Fetal Brain Female	brain
32	chr11:45170400-45185200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr11:45170600-45179000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:45170600-45179400	Weak transcription	Psoas Muscle	Psoas
35	chr11:45170800-45179600	Weak transcription	Fetal Brain Male	brain
36	chr11:45170800-45180800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr11:45171000-45175000	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:45171200-45179200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:45171800-45175000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:45171800-45176600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:45172200-45174600	Weak transcription	Pancreas	Pancrea
42	chr11:45172200-45175000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:45172200-45176000	Weak transcription	Right Ventricle	heart
44	chr11:45172200-45176000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:45172200-45176200	Weak transcription	Gastric	stomach
46	chr11:45172200-45179000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr11:45172400-45190000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:45173400-45174600	Weak transcription	Ovary	ovary
49	chr11:45173400-45174600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr11:45173400-45176000	Weak transcription	Spleen	Spleen

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