Variant report

Variant	nsv998945
Chromosome Location	chr2:151711411-151833317
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	chr2:151726245..151728996-chr2:151735766..151738645,2	K562	blood:
2	chr2:151718532..151720265-chr2:151722000..151724171,2	K562	blood:
3	chr2:151718532..151720265-chr2:151722000..151724171,2	K562	blood:
4	chr2:151713893..151716276-chr2:151721161..151722735,2	K562	blood:
5	chr2:151726245..151728996-chr2:151735766..151738645,2	K562	blood:
6	chr2:151729118..151732985-chr2:151733017..151737026,4	K562	blood:
7	chr2:151768362..151769212-chr2:151907879..151908719,2	MCF-7	breast:
8	chr10:5933821..5935712-chr2:151735859..151737363,2	K562	blood:
9	chr2:151729118..151732985-chr2:151733017..151737026,4	K562	blood:
10	chr2:151713893..151716276-chr2:151721161..151722735,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC023469.1.1-1	chr2:151812105-151812299	NONHSAT074946
2	lnc-AC023469.1.1-1	chr2:151812442-151812560	NONHSAT074946

No data

Extended variants
information (count: 4602 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:4602 , 50 per page) page: 1 2 3 4 5 6 7 ... 93

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72858591	chr2:151711452-151711453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183953495	chr2:151711457-151711458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537381979	chr2:151711477-151711478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533678741	chr2:151711480-151711481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556984885	chr2:151711522-151711523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112682224	chr2:151711542-151711543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563960243	chr2:151711588-151711589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12991056	chr2:151711610-151711611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535952153	chr2:151711644-151711645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189646384	chr2:151711651-151711652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527353052	chr2:151711669-151711670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547371563	chr2:151711673-151711674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141668728	chr2:151711679-151711680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376310167	chr2:151711692-151711693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7579851	chr2:151711700-151711701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558005387	chr2:151711718-151711719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7567736	chr2:151711749-151711750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs34809066	chr2:151711759-151711760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556229613	chr2:151711778-151711779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143630764	chr2:151711782-151711783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148084710	chr2:151711819-151711820	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs555106303	chr2:151711829-151711830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs192336918	chr2:151711860-151711861	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs58234421	chr2:151711874-151711875	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs114443107	chr2:151711927-151711928	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs116621743	chr2:151711987-151711988	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs141865194	chr2:151711991-151711992	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs150792405	chr2:151711992-151711993	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs184287365	chr2:151711993-151711994	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs543259353	chr2:151712156-151712157	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs559940227	chr2:151712157-151712158	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs527389661	chr2:151712175-151712176	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs386651636	chr2:151712240-151712241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12476555	chr2:151712243-151712244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562506420	chr2:151712253-151712254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12464150	chr2:151712272-151712273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs190456580	chr2:151712276-151712277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76318281	chr2:151712285-151712286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535340238	chr2:151712342-151712343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551369333	chr2:151712354-151712355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555149125	chr2:151712357-151712358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12472472	chr2:151712393-151712394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs534809850	chr2:151712424-151712425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558017923	chr2:151712461-151712462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138159401	chr2:151712483-151712484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12472499	chr2:151712494-151712495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs73967458	chr2:151712550-151712551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181838431	chr2:151712588-151712589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543302338	chr2:151712607-151712608	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs560078392	chr2:151712619-151712620	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151706600-151715800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:151707200-151711800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:151710200-151722200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:151710400-151714800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:151710600-151714800	Weak transcription	Fetal Stomach	stomach
6	chr2:151710600-151715000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:151711800-151712200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr2:151712600-151713000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr2:151713000-151714000	Enhancers	NHEK	skin
10	chr2:151713000-151714600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:151713000-151716400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:151713200-151713400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr2:151713200-151713600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:151713200-151713600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:151713400-151715800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:151713600-151715600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:151713600-151715800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:151714000-151715600	Weak transcription	NHEK	skin
19	chr2:151714600-151715600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:151714800-151715200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:151714800-151715200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:151714800-151715200	Enhancers	Fetal Stomach	stomach
23	chr2:151714800-151717200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr2:151715000-151715400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:151715000-151717000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:151715000-151717000	Enhancers	Liver	Liver
27	chr2:151715200-151716200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:151715200-151716400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:151715400-151716400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:151715600-151716000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:151715600-151716600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:151715600-151716600	Enhancers	NHEK	skin
33	chr2:151715800-151716000	Enhancers	HMEC	breast
34	chr2:151715800-151716600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:151715800-151717000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr2:151715800-151717000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:151715800-151717200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:151715800-151717600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:151716000-151717000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:151716000-151717000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr2:151716000-151717000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr2:151716000-151717200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr2:151716200-151717200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:151716200-151717200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr2:151716200-151717400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:151716200-151717600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr2:151716400-151716800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:151716400-151717000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr2:151716400-151717000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:151716400-151717200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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