Variant report

Variant	nsv2667
Chromosome Location	chr2:32444810-32489755
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:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:32445227..32449129-chr2:32451328..32453997,4	K562	blood:
2	chr2:32462083..32465466-chr2:32467498..32469177,3	K562	blood:
3	chr2:32463297..32465974-chr2:32475784..32478393,2	K562	blood:
4	chr2:32451148..32452935-chr2:32453528..32455785,2	K562	blood:
5	chr2:32469608..32472298-chr2:32474844..32477443,2	K562	blood:
6	chr2:32459736..32462357-chr2:32463296..32464848,2	K562	blood:
7	chr2:32456174..32459090-chr2:32459159..32461418,3	MCF-7	breast:
8	chr2:32476245..32477748-chr2:32507604..32509921,2	K562	blood:
9	chr2:32465425..32467029-chr2:32470034..32472157,2	K562	blood:
10	chr2:32449383..32452935-chr2:32453353..32456316,4	K562	blood:
11	chr2:32450716..32453123-chr2:32453250..32456033,3	MCF-7	breast:
12	chr2:32445227..32449129-chr2:32451328..32453997,4	K562	blood:
13	chr2:32449383..32451061-chr2:32453847..32456316,2	K562	blood:
14	chr2:32449383..32451061-chr2:32453847..32456316,2	K562	blood:
15	chr2:32479156..32481835-chr2:32486944..32488705,2	MCF-7	breast:
16	chr2:32456174..32459090-chr2:32459159..32461418,3	MCF-7	breast:
17	chr2:32477535..32481572-chr2:32495523..32499136,3	K562	blood:
18	chr2:32451081..32452778-chr2:32461639..32463751,2	K562	blood:
19	chr2:32451148..32452935-chr2:32453528..32455785,2	K562	blood:
20	chr2:32470343..32473625-chr2:32476011..32478727,4	K562	blood:
21	chr2:32473322..32475568-chr2:32480051..32482109,2	K562	blood:
22	chr2:32427480..32429010-chr2:32446145..32448462,2	K562	blood:
23	chr2:32462083..32465466-chr2:32467498..32469177,3	K562	blood:
24	chr2:32479156..32481835-chr2:32486944..32488705,2	MCF-7	breast:
25	chr2:32450716..32453123-chr2:32453250..32456033,3	MCF-7	breast:
26	chr2:32435157..32437239-chr2:32449933..32452199,2	K562	blood:
27	chr2:32443634..32446548-chr2:32446914..32449802,2	K562	blood:
28	chr2:32390601..32392270-chr2:32450948..32453894,2	MCF-7	breast:
29	chr2:32473322..32475568-chr2:32480051..32482109,2	K562	blood:
30	chr2:32465425..32467029-chr2:32470034..32472157,2	K562	blood:
31	chr2:32458865..32461790-chr2:32581135..32583548,2	MCF-7	breast:
32	chr2:32459736..32462357-chr2:32463296..32464848,2	K562	blood:
33	chr2:32469608..32472298-chr2:32474844..32477443,2	K562	blood:
34	chr2:32451081..32452778-chr2:32461639..32463751,2	K562	blood:
35	chr2:32474270..32479271-chr2:32479320..32483848,6	K562	blood:
36	chr2:32489371..32491276-chr2:32526459..32528008,2	K562	blood:
37	chr2:32449383..32452935-chr2:32453353..32456316,4	K562	blood:
38	chr2:32463297..32465974-chr2:32475784..32478393,2	K562	blood:
39	chr2:32443634..32446548-chr2:32446914..32449802,2	K562	blood:
40	chr2:32474270..32479271-chr2:32479320..32483848,6	K562	blood:
41	chr2:32485192..32487317-chr2:32491071..32493150,2	K562	blood:
42	chr2:32444908..32446420-chr2:32446520..32449032,2	MCF-7	breast:
43	chr2:32473864..32476100-chr2:32581947..32583463,2	MCF-7	breast:
44	chr2:32470343..32473625-chr2:32476011..32478727,4	K562	blood:
45	chr11:62608697..62609217-chr2:32486331..32487325,2	NB4	blood:
46	chr2:32444908..32446420-chr2:32446520..32449032,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SLC30A6	hsa-let-7d-5p	chr2:32448665-32448672
2	SLC30A6	hsa-miR-196a-5p	chr2:32448664-32448670

Variant related genes	Relation type
ENSG00000115760	chromatin interactions
ENSG00000119820	chromatin interactions
ENSG00000152683	chromatin interactions
ENSG00000272716	chromatin interactions

Extended variants
information (count: 1837 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1837 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117569127	chr2:32444823-32444824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539998696	chr2:32444844-32444845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548927617	chr2:32444865-32444866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139893451	chr2:32444911-32444912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3820925	chr2:32444926-32444927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34831107	chr2:32445030-32445031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537609292	chr2:32445051-32445052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557599443	chr2:32445057-32445058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570910294	chr2:32445095-32445096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143371427	chr2:32445109-32445110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144646699	chr2:32445110-32445111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182549816	chr2:32445116-32445117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540943966	chr2:32445127-32445128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565165808	chr2:32445159-32445160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148477590	chr2:32445182-32445183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142284406	chr2:32445195-32445196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543168403	chr2:32445200-32445201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188612915	chr2:32445201-32445202	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370661397	chr2:32445253-32445254	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375574616	chr2:32445265-32445266	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139809110	chr2:32445300-32445301	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532101359	chr2:32445307-32445308	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368152978	chr2:32445314-32445315	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372095775	chr2:32445319-32445320	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368073848	chr2:32445326-32445327	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561633008	chr2:32445359-32445360	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146872175	chr2:32445371-32445372	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376726262	chr2:32445386-32445387	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142905530	chr2:32445401-32445402	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368311032	chr2:32445414-32445415	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs202232137	chr2:32445425-32445426	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141528609	chr2:32445444-32445445	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372327225	chr2:32445447-32445448	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62134025	chr2:32445458-32445459	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147043090	chr2:32445477-32445478	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568732019	chr2:32445480-32445481	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372351330	chr2:32445495-32445496	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149327471	chr2:32445496-32445497	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551191753	chr2:32445500-32445501	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148033862	chr2:32445501-32445502	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76828792	chr2:32445506-32445507	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539533883	chr2:32445514-32445515	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145965354	chr2:32445526-32445527	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553457793	chr2:32445567-32445568	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200735309	chr2:32445568-32445569	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113096935	chr2:32445605-32445606	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566872491	chr2:32445612-32445613	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373184029	chr2:32445623-32445624	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs199629847	chr2:32445640-32445641	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141501206	chr2:32445649-32445650	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Autism	22549408	CNVD

Chromatin state (count:635 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32391600-32452800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:32391800-32453800	Weak transcription	Colonic Mucosa	Colon
3	chr2:32392200-32445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:32392800-32447600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:32399200-32449600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:32403000-32452200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:32404200-32445200	Weak transcription	Brain Angular Gyrus	brain
8	chr2:32404200-32447600	Weak transcription	Pancreas	Pancrea
9	chr2:32404200-32448000	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:32404200-32452400	Weak transcription	Right Ventricle	heart
11	chr2:32404200-32460600	Weak transcription	Esophagus	oesophagus
12	chr2:32404400-32447400	Weak transcription	HUVEC	blood vessel
13	chr2:32404400-32450800	Weak transcription	Gastric	stomach
14	chr2:32404800-32447800	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:32410400-32445200	Weak transcription	Fetal Kidney	kidney
16	chr2:32410600-32445200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:32411400-32445400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:32411600-32447800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:32412000-32450400	Weak transcription	Spleen	Spleen
20	chr2:32412800-32445200	Weak transcription	Brain Substantia Nigra	brain
21	chr2:32415200-32445200	Weak transcription	HMEC	breast
22	chr2:32419200-32446800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:32419800-32445200	Weak transcription	HSMM	muscle
24	chr2:32420800-32447000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:32421200-32445000	Weak transcription	Thymus	Thymus
26	chr2:32421200-32445400	Weak transcription	Fetal Heart	heart
27	chr2:32422000-32452400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:32423000-32447400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:32423400-32448000	Weak transcription	Small Intestine	intestine
30	chr2:32423600-32445200	Weak transcription	NH-A	brain
31	chr2:32424400-32445200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:32424400-32447400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:32424400-32447600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:32424400-32447600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:32424400-32455400	Weak transcription	Fetal Brain Male	brain
36	chr2:32426400-32455000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:32426800-32445000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:32426800-32445200	Weak transcription	HSMMtube	muscle
39	chr2:32426800-32447600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:32426800-32447600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:32427000-32447400	Weak transcription	Ovary	ovary
42	chr2:32427200-32445200	Weak transcription	A549	lung
43	chr2:32427400-32445200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:32427400-32445200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:32427400-32447400	Weak transcription	Brain Anterior Caudate	brain
46	chr2:32427400-32447800	Weak transcription	K562	blood
47	chr2:32428000-32445200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:32428200-32447600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:32428800-32447600	Weak transcription	Aorta	Aorta
50	chr2:32429200-32445200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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