Variant report

Variant	nsv581460
Chromosome Location	chr2:36186152-36331798
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:36262623..36264860-chr2:36265182..36267594,2	K562	blood:
2	chr2:36262623..36264860-chr2:36265182..36267594,2	K562	blood:
3	chr2:36208827..36211193-chr2:36213089..36216018,2	MCF-7	breast:
4	chr2:36243496..36245168-chr2:36248339..36251225,2	K562	blood:
5	chr2:36208827..36211193-chr2:36213089..36216018,2	MCF-7	breast:
6	chr2:36243496..36245168-chr2:36248339..36251225,2	K562	blood:
7	chr2:36198079..36198752-chr2:36549195..36549978,3	MCF-7	breast:
8	chr2:36222475..36223224-chr6:31509383..31509944,2	MCF-7	breast:
9	chr2:36198095..36199022-chr2:36584804..36585700,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198563	chromatin interactions

Extended variants
information (count: 2497 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2497 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs833760	chr2:36186152-36186153	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535293432	chr2:36186159-36186160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs10211245	chr2:36186184-36186185	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533364268	chr2:36186192-36186193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs76083277	chr2:36186205-36186206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs563457126	chr2:36186206-36186207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs78078522	chr2:36186224-36186225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs549040559	chr2:36186236-36186237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs74840107	chr2:36186242-36186243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs528667568	chr2:36186271-36186272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs547283913	chr2:36186300-36186301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs571803694	chr2:36186329-36186330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs539442914	chr2:36186365-36186366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs557754967	chr2:36186418-36186419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs35197555	chr2:36186430-36186431	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs34024940	chr2:36186433-36186434	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs34535389	chr2:36186445-36186446	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs573821382	chr2:36186473-36186474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs540819570	chr2:36186510-36186511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs553253425	chr2:36186534-36186535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs577825467	chr2:36186537-36186538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs545270502	chr2:36186538-36186539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs115832715	chr2:36186566-36186567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs386644828	chr2:36186584-36186585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs2968632	chr2:36186585-36186586	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs561009251	chr2:36186588-36186589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs149596188	chr2:36186625-36186626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs565499559	chr2:36186633-36186634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs144226164	chr2:36186646-36186647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs35667923	chr2:36186661-36186662	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532728303	chr2:36186662-36186663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs72057193	chr2:36186677-36186678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs75736464	chr2:36186678-36186679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs559825923	chr2:36186724-36186725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs530037355	chr2:36186746-36186747	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs551275214	chr2:36186772-36186773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs569716692	chr2:36186790-36186791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs537036749	chr2:36186800-36186801	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577416456	chr2:36186805-36186806	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs556733513	chr2:36186806-36186807	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs567221516	chr2:36186828-36186829	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs534833287	chr2:36186850-36186851	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs78258272	chr2:36186929-36186930	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs148708607	chr2:36186930-36186931	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs372208626	chr2:36186959-36186960	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs544945397	chr2:36186969-36186970	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs113987468	chr2:36186970-36186971	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs567407063	chr2:36186974-36186975	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs575241330	chr2:36186979-36186980	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs531525039	chr2:36186980-36186981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
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
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36185800-36187600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:36186200-36186400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:36186200-36186800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:36186800-36189200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:36187400-36187800	Enhancers	Fetal Brain Male	brain
6	chr2:36187600-36187800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:36187600-36188000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:36187800-36188800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:36187800-36189200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:36187800-36189400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:36188000-36188800	Enhancers	Fetal Brain Female	brain
12	chr2:36188200-36189400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:36188400-36188600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:36188800-36189800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:36189200-36189400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:36189200-36189600	Active TSS	Placenta	Placenta
17	chr2:36189400-36189600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:36189800-36190200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:36196600-36197000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:36196600-36197000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:36196600-36197000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:36196600-36197000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:36196600-36197000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:36197000-36198800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:36198200-36199200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:36198600-36198800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr2:36198600-36199600	Enhancers	HUVEC	blood vessel
28	chr2:36198800-36199000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:36198800-36199200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:36198800-36199200	Enhancers	Brain Anterior Caudate	brain
31	chr2:36198800-36199200	Enhancers	HSMM	muscle
32	chr2:36199200-36201400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:36200200-36200400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr2:36200200-36200400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr2:36200400-36201800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:36200600-36201800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:36200800-36203000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:36201400-36201600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr2:36201600-36202200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:36201800-36202400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr2:36201800-36203400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr2:36201800-36203800	Enhancers	Primary T cells from cord blood	blood
43	chr2:36201800-36204200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr2:36202000-36204400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr2:36202200-36203200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:36202400-36202800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:36202800-36203600	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr2:36203000-36203600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr2:36203200-36203600	Active TSS	Primary T cells fromperipheralblood	blood
50	chr2:36203200-36203600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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