Variant report

Variant	nsv964352
Chromosome Location	chr2:145190494-145193273
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr2:145192046-145192095	K562	blood:	n/a	n/a
2	EP300	chr2:145192476-145192493	GM12878	blood:	n/a	n/a
3	GATA3	chr2:145190796-145191178	MCF-7	breast:	n/a	n/a
4	GATA3	chr2:145191663-145191691	SH-SY5Y	brain:	n/a	n/a
5	MXI1	chr2:145187976-145190596	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr2:145193193-145200047	K562	blood:	n/a	n/a
7	POLR2A	chr2:145188990-145191120	K562	blood:	n/a	n/a
8	POLR2A	chr2:145191347-145192974	K562	blood:	n/a	n/a
9	RFX5	chr2:145191290-145191491	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:145190065..145193052-chr2:145193360..145196551,3	K562	blood:
2	chr2:145183043..145184939-chr2:145191977..145193840,2	K562	blood:
3	chr2:145192975..145195951-chr2:145200212..145202235,3	K562	blood:
4	chr2:145184735..145186465-chr2:145190004..145192549,2	K562	blood:
5	chr2:145192553..145194092-chr2:145198952..145200886,2	K562	blood:

No data

Variant related genes	Relation type
ZEB2	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184289525	chr2:145190544-145190545	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs61625750	chr2:145190549-145190550	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs534355050	chr2:145190615-145190616	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs78388210	chr2:145190715-145190716	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs138479513	chr2:145190733-145190734	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs545976413	chr2:145190790-145190791	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs552947100	chr2:145190830-145190831	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs571336010	chr2:145190909-145190910	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs538740041	chr2:145191011-145191012	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs557550283	chr2:145191100-145191101	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs575950959	chr2:145191107-145191108	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs189654695	chr2:145191151-145191152	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs554992099	chr2:145191253-145191254	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200875155	chr2:145191335-145191336	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs181172457	chr2:145191344-145191345	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs76911055	chr2:145191377-145191378	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs565305559	chr2:145191452-145191453	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs534140668	chr2:145191495-145191496	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs113332986	chr2:145191515-145191516	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs112438712	chr2:145191565-145191566	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs189207813	chr2:145191568-145191569	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs530644401	chr2:145191594-145191595	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs374688739	chr2:145191600-145191601	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs549241768	chr2:145191619-145191620	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs143013799	chr2:145191644-145191645	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs567413240	chr2:145191675-145191676	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs528407285	chr2:145191687-145191688	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs67375672	chr2:145191705-145191706	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs571272615	chr2:145191721-145191722	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs146126444	chr2:145191783-145191784	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs181574910	chr2:145191829-145191830	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs138874186	chr2:145191833-145191834	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs187405987	chr2:145191878-145191879	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs555162493	chr2:145191942-145191943	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs573432981	chr2:145191946-145191947	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs540927139	chr2:145191997-145191998	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs544280981	chr2:145192011-145192012	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs149489761	chr2:145192050-145192051	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs556164567	chr2:145192052-145192053	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs564515272	chr2:145192135-145192136	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs143943858	chr2:145192138-145192139	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs192096462	chr2:145192196-145192197	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs148622318	chr2:145192205-145192206	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs144198567	chr2:145192306-145192307	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs572909908	chr2:145192402-145192403	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs540615256	chr2:145192412-145192413	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs71428031	chr2:145192466-145192467	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs564871125	chr2:145192472-145192473	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs532173955	chr2:145192542-145192543	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs180892801	chr2:145192552-145192553	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
Non-syndromic sensorineural hearing loss	20456320	CNVD
Hirschsprung''s Disease	21712996	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145157600-145192000	Weak transcription	Spleen	Spleen
2	chr2:145157800-145206200	Weak transcription	Lung	lung
3	chr2:145159000-145193800	Weak transcription	Dnd41	blood
4	chr2:145162600-145206600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:145179000-145210200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:145182200-145190800	Genic enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:145183000-145194600	Weak transcription	Hela-S3	cervix
8	chr2:145184600-145193200	Genic enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:145185000-145196000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:145185600-145203000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:145187600-145191400	Weak transcription	Primary B cells from cord blood	blood
12	chr2:145187600-145191800	Enhancers	NHDF-Ad	bronchial
13	chr2:145187600-145194600	Weak transcription	HUVEC	blood vessel
14	chr2:145187600-145198200	Weak transcription	Placenta	Placenta
15	chr2:145187600-145198200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:145187800-145192400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:145188000-145191000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:145188000-145191000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:145188000-145191000	Enhancers	Colon Smooth Muscle	Colon
20	chr2:145188000-145191800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:145188000-145192000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:145188200-145190800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:145188200-145190800	Enhancers	Osteobl	bone
24	chr2:145188200-145191000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:145188200-145191200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:145188200-145191600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:145188200-145192000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:145188200-145192200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:145188200-145192400	Enhancers	Fetal Stomach	stomach
30	chr2:145188400-145191000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr2:145188600-145190600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:145188800-145191600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:145188800-145192000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:145188800-145192000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:145188800-145192000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:145188800-145192400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:145188800-145196200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:145189000-145190800	Enhancers	Fetal Heart	heart
39	chr2:145189000-145191600	Enhancers	HSMMtube	muscle
40	chr2:145189000-145193000	Genic enhancers	Fetal Lung	lung
41	chr2:145189000-145198400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:145189200-145190600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:145189200-145190800	Enhancers	Fetal Muscle Leg	muscle
44	chr2:145189200-145191400	Enhancers	NHLF	lung
45	chr2:145189200-145192000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:145189200-145192000	Weak transcription	Ovary	ovary
47	chr2:145189200-145192400	Weak transcription	Left Ventricle	heart
48	chr2:145189200-145198400	Weak transcription	Right Ventricle	heart
49	chr2:145189200-145199600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr2:145189200-145206600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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