Variant report

Variant	nsv962066
Chromosome Location	chr2:48061837-48072383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr2:48065875-48065883	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr2:48067071-48067225	K562	blood:	n/a	n/a
3	CTCF	chr2:48067826-48067869	GM20000	blood:	n/a	n/a
4	MEF2A	chr2:48070624-48070866	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:48065300-48065333	MCF-7	breast:	n/a	n/a
6	POLR2A	chr2:48069894-48070044	ProgFib	skin:	n/a	n/a
7	POLR2A	chr2:48068491-48068513	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr2:48062348-48062571	K562	blood:	n/a	n/a
9	POLR2A	chr2:48066526-48066667	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr2:48070077-48070104	MCF-7	breast:	n/a	n/a
11	POLR2A	chr2:48065232-48065346	K562	blood:	n/a	n/a
12	POLR2A	chr2:48070052-48070068	MCF-7	breast:	n/a	n/a
13	POLR2A	chr2:48069935-48070054	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:48062239-48062324	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:48070177-48070223	GM12878	blood:	n/a	n/a
16	POLR2A	chr2:48063648-48063653	K562	blood:	n/a	n/a
17	POLR2A	chr2:48069998-48070011	MCF-7	breast:	n/a	n/a
18	POLR2A	chr2:48065875-48065977	K562	blood:	n/a	n/a
19	STAT3	chr2:48065311-48065511	MCF10A-Er-Src	breast:	n/a	n/a
20	ZNF384	chr2:48070276-48070282	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:48071695..48073953-chr2:48129717..48131691,2	K562	blood:
2	chr2:48065617..48068268-chr2:48068488..48070410,2	MCF-7	breast:
3	chr2:48065617..48068268-chr2:48068488..48070410,2	MCF-7	breast:
4	chr2:48070745..48074263-chr2:48075364..48078166,3	MCF-7	breast:
5	chr2:48071439..48074255-chr2:48079840..48082748,2	K562	blood:
6	chr2:48025230..48027747-chr2:48061113..48063093,2	K562	blood:
7	chr2:48057040..48058968-chr2:48060499..48062029,2	MCF-7	breast:
8	chr2:48055770..48058382-chr2:48064164..48065669,2	K562	blood:

No data

Variant related genes	Relation type
FBXO11	TF binding region
ENSG00000235369	chromatin interactions

Extended variants
information (count: 518 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:518 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539578641	chr2:48061866-48061867	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs183571348	chr2:48061912-48061913	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551436173	chr2:48061949-48061950	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149046022	chr2:48062009-48062010	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370474187	chr2:48062020-48062021	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566545180	chr2:48062044-48062045	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs373633951	chr2:48062047-48062048	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373538179	chr2:48062061-48062062	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573690378	chr2:48062063-48062064	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533894032	chr2:48062095-48062096	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs116565099	chr2:48062098-48062099	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs186748268	chr2:48062122-48062123	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544569557	chr2:48062174-48062175	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs192604229	chr2:48062188-48062189	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184944934	chr2:48062199-48062200	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542815985	chr2:48062220-48062221	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79721522	chr2:48062237-48062238	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs189826766	chr2:48062241-48062242	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs577744118	chr2:48062254-48062255	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs375247514	chr2:48062262-48062263	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs544797391	chr2:48062264-48062265	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs144529436	chr2:48062277-48062278	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs532568269	chr2:48062307-48062308	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs115450784	chr2:48062346-48062347	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566382927	chr2:48062366-48062367	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs536507437	chr2:48062369-48062370	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs78490747	chr2:48062371-48062372	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs147842335	chr2:48062372-48062373	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs537974760	chr2:48062383-48062384	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs368029051	chr2:48062421-48062422	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs555971820	chr2:48062429-48062430	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs370825192	chr2:48062433-48062434	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs139691679	chr2:48062502-48062503	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs17036985	chr2:48062510-48062511	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181871952	chr2:48062540-48062541	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs542552439	chr2:48062618-48062619	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561162502	chr2:48062624-48062625	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs576138857	chr2:48062631-48062632	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs543571527	chr2:48062645-48062646	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs565402018	chr2:48062648-48062649	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs77024782	chr2:48062650-48062651	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs62139915	chr2:48062653-48062654	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542692078	chr2:48062662-48062663	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532607489	chr2:48062701-48062702	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs547824126	chr2:48062705-48062706	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs559774802	chr2:48062757-48062758	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546543472	chr2:48062760-48062761	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs145217021	chr2:48062761-48062762	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs1875407	chr2:48062783-48062784	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs1875406	chr2:48062784-48062785	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD

Chromatin state (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48012600-48065000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:48021400-48067600	Strong transcription	Dnd41	blood
3	chr2:48021600-48067000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:48023200-48065000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:48030200-48067600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:48030400-48067000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:48030800-48067000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:48030800-48067000	Strong transcription	Fetal Thymus	thymus
9	chr2:48031000-48067000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:48031000-48067000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:48031000-48067200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:48031200-48065800	Strong transcription	Liver	Liver
13	chr2:48031200-48066800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:48031400-48066800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:48031400-48067000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:48031400-48067800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:48031400-48067800	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:48031400-48072600	Weak transcription	Stomach Mucosa	stomach
19	chr2:48032200-48067000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:48032400-48066800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:48032400-48068400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:48033600-48067000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr2:48033800-48067400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:48036000-48067800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:48038200-48071400	Weak transcription	Fetal Heart	heart
26	chr2:48038400-48066600	Strong transcription	Adipose Nuclei	Adipose
27	chr2:48040400-48068000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:48042000-48067800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:48043200-48066800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:48043400-48088600	Weak transcription	Pancreas	Pancrea
31	chr2:48043600-48067000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr2:48044800-48071000	Weak transcription	Fetal Brain Male	brain
33	chr2:48045800-48071600	Weak transcription	Aorta	Aorta
34	chr2:48047800-48067400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:48048200-48072400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:48048400-48070000	Weak transcription	Small Intestine	intestine
37	chr2:48048600-48062200	Weak transcription	Brain Angular Gyrus	brain
38	chr2:48048600-48063200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:48048600-48080600	Weak transcription	NHLF	lung
40	chr2:48049200-48062200	Weak transcription	HSMMtube	muscle
41	chr2:48049200-48063200	Weak transcription	Colonic Mucosa	Colon
42	chr2:48049200-48070000	Weak transcription	Brain Substantia Nigra	brain
43	chr2:48049200-48096000	Weak transcription	Gastric	stomach
44	chr2:48049400-48062200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:48050200-48072400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr2:48051200-48067000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr2:48051400-48067000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:48051600-48062200	Weak transcription	Brain Anterior Caudate	brain
49	chr2:48051600-48073400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:48052000-48067000	Strong transcription	Placenta	Placenta

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