Variant report

Variant	esv1841147
Chromosome Location	chr2:51519281-51569503
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:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:51554002..51556424-chr2:51560919..51562851,2	K562	blood:
2	chr2:51554002..51556424-chr2:51560919..51562851,2	K562	blood:
3	chr2:51566884..51569185-chr2:51570886..51573371,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRXN1-2	chr2:51559800-51560035	XLOC_002094
2	lnc-CHAC2-4	chr2:51555527-51555627	ENSG00000231918.1
3	lnc-NRXN1-2	chr2:51559800-51560035	XLOC_002094
4	lnc-NRXN1-2	chr2:51560653-51560787	XLOC_002094
5	lnc-NRXN1-2	chr2:51560653-51560803	XLOC_002094
6	lnc-NRXN1-2	chr2:51560653-51560787	XLOC_002094

No data

Variant related genes	Relation type
PDCD10	miRNA target sites

Extended variants
information (count: 1393 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1393 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10490144	chr2:51519281-51519282	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs62140727	chr2:51519310-51519311	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs73933824	chr2:51519311-51519312	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182828935	chr2:51519330-51519331	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529521720	chr2:51519353-51519354	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138131869	chr2:51519356-51519357	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569612043	chr2:51519361-51519362	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188744226	chr2:51519370-51519371	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191962135	chr2:51519388-51519389	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184945433	chr2:51519390-51519391	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189423211	chr2:51519393-51519394	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10490143	chr2:51519416-51519417	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs533561122	chr2:51519544-51519545	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555857841	chr2:51519545-51519546	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574033517	chr2:51519565-51519566	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553417419	chr2:51519572-51519573	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549850807	chr2:51519592-51519593	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577517165	chr2:51519594-51519595	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544861654	chr2:51519597-51519598	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191599216	chr2:51519618-51519619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184358740	chr2:51519638-51519639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs36016587	chr2:51519639-51519640	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs149597823	chr2:51519653-51519654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189718147	chr2:51519668-51519669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531297464	chr2:51519707-51519708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72881899	chr2:51519725-51519726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181459950	chr2:51519787-51519788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377489461	chr2:51519795-51519796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550390802	chr2:51519803-51519804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146089219	chr2:51519810-51519811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552072856	chr2:51519829-51519830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138988207	chr2:51519921-51519922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142097492	chr2:51519930-51519931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538866586	chr2:51519935-51519936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549098319	chr2:51519941-51519942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567791538	chr2:51519975-51519976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62140728	chr2:51520023-51520024	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555946702	chr2:51520032-51520033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35765915	chr2:51520086-51520087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571073913	chr2:51520101-51520102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374197300	chr2:51520166-51520167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566009906	chr2:51520175-51520176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554065788	chr2:51520213-51520214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186251400	chr2:51520219-51520220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115510326	chr2:51520227-51520228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146396702	chr2:51520230-51520231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534938362	chr2:51520244-51520245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148577642	chr2:51520253-51520254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142074488	chr2:51520267-51520268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563092804	chr2:51520280-51520281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51517000-51520200	Weak transcription	Liver	Liver
2	chr2:51518000-51521200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:51518800-51519400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:51518800-51519600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr2:51518800-51519600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr2:51519000-51519600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr2:51519000-51519800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:51519200-51519400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:51519200-51519600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:51519200-51519600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:51519400-51519600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr2:51519400-51519600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:51519600-51520200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:51519600-51520200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:51519600-51520400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:51519600-51520600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:51519600-51521000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:51520200-51520600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:51520200-51522200	Enhancers	Liver	Liver
20	chr2:51520600-51521000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:51524600-51525000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:51524600-51525000	Enhancers	Fetal Kidney	kidney
23	chr2:51526400-51527000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:51526600-51527000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:51527000-51530200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:51528200-51528800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:51528600-51528800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:51530200-51532800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:51531400-51531600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:51531400-51531800	Enhancers	Fetal Brain Male	brain
31	chr2:51531600-51533000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:51531800-51532800	Enhancers	Brain Germinal Matrix	brain
33	chr2:51532000-51532800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:51533000-51533400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:51533000-51533400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:51534200-51534600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:51534200-51534600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:51534800-51537000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:51536800-51537200	Enhancers	Aorta	Aorta
40	chr2:51537000-51537200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr2:51537200-51538200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:51545200-51550200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:51547000-51547800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:51549000-51549800	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr2:51549800-51550200	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr2:51550200-51551800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr2:51551000-51551600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr2:51551000-51551600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr2:51551200-51551600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr2:51554600-51557000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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