Variant report

Variant	nsv961497
Chromosome Location	chr2:114428065-114429638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr2:114429616-114429831	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:114428227-114428277	CMK	blood:	n/a
2	chr2:114428227-114428277	MCF-7	breast:	n/a
3	chr2:114428227-114428277	ECC-1	luminal epithelium:	n/a
4	chr2:114428227-114428277	HCPEpiC	choroid plexus:	n/a
5	chr2:114428227-114428277	SK-N-SH	brain:	n/a
6	chr2:114428227-114428277	HL-60	blood:	n/a
7	chr2:114428227-114428277	HRPEpiC	eye:	n/a
8	chr2:114428227-114428277	NT2-D1	testis:	n/a
9	chr2:114428227-114428277	SK-N-SH_RA	brain:	n/a
10	chr2:114428227-114428277	PrEC	prostate:	n/a
11	chr2:114428227-114428277	U87	brain:	n/a
12	chr2:114428227-114428277	HEEpiC	esophagus:	n/a
13	chr2:114428227-114428277	GM12891	blood:	n/a
14	chr2:114428227-114428277	MCF10A-Er-Src	breast:	n/a
15	chr2:114428227-114428277	HepG2	liver:	n/a
16	chr2:114428227-114428277	HNPCEpiC	eye:	n/a
17	chr2:114428227-114428277	RPTEC	kidney:	n/a
18	chr2:114428227-114428277	Caco-2	colon:	n/a
19	chr2:114428227-114428277	BE2_C	brain:	n/a
20	chr2:114428227-114428277	HMEC	breast:	n/a
21	chr2:114428227-114428277	GM06990	blood:	n/a
22	chr2:114428227-114428277	ProgFib	skin:	n/a
23	chr2:114428227-114428277	HIPEpiC	eye:	n/a
24	chr2:114428227-114428277	AG10803	skin:	n/a
25	chr2:114428227-114428277	PANC-1	pancreas:	n/a
26	chr2:114428227-114428277	HUVEC	blood vessel:	n/a
27	chr2:114428227-114428277	HCM	heart:	n/a
28	chr2:114428227-114428277	AG04449	skin:	fetal
29	chr2:114428227-114428277	Hela-S3	cervix:	n/a
30	chr2:114428227-114428277	GM12892	blood:	n/a
31	chr2:114428227-114428277	T-47D	breast:	n/a
32	chr2:114428227-114428277	AG09319	gingival:	n/a
33	chr2:114428227-114428277	GM12878	blood:	n/a
34	chr2:114428227-114428277	NHBE	bronchial:	n/a
35	chr2:114428227-114428277	LNCaP	prostate:	n/a
36	chr2:114428227-114428277	Jurkat	blood:	n/a
37	chr2:114428227-114428277	AG09309	skin:	n/a
38	chr2:114428227-114428277	H1-hESC	embryonic stem cell:	embryo
39	chr2:114428227-114428277	ovcar-3	ovarian:	n/a
40	chr2:114428227-114428277	AG04450	lung:	fetal
41	chr2:114428227-114428277	BJ	skin:	n/a
42	chr2:114428227-114428277	HAEpiC	amniotic membrane:	n/a
43	chr2:114428227-114428277	NH-A	brain:	n/a
44	chr2:114428227-114428277	HPAEpiC	pulmonary alveolar:	n/a
45	chr2:114428227-114428277	Hepatocyte	liver:	n/a
46	chr2:114428227-114428277	A549	lung:	n/a
47	chr2:114428227-114428277	K562	blood:	n/a
48	chr2:114428227-114428277	SKMC	muscle:	n/a
49	chr2:114428227-114428277	HCF	heart:	n/a
50	chr2:114428227-114428277	GM19239	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RABL2A-1	chr2:114429415-114429503	XLOC_001633

No data

Variant related genes	Relation type
ENSG00000175509	TF binding region
ENSG00000175509	CpG island
OSBP	miRNA target sites

Extended variants
information (count: 58 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534442630	chr2:114428080-114428081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554006606	chr2:114428099-114428100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566769433	chr2:114428107-114428108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113726445	chr2:114428159-114428160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555582419	chr2:114428164-114428165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372467491	chr2:114428195-114428196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551526884	chr2:114428240-114428241	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs7576319	chr2:114428258-114428259	Weak transcription	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537938493	chr2:114428261-114428262	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs188727939	chr2:114428270-114428271	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs577790840	chr2:114428356-114428357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540544556	chr2:114428374-114428375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13028979	chr2:114428418-114428419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573561574	chr2:114428597-114428598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114288195	chr2:114428636-114428637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562338485	chr2:114428637-114428638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148934997	chr2:114428644-114428645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551479509	chr2:114428658-114428659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143645150	chr2:114428665-114428666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6726595	chr2:114428705-114428706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs370716436	chr2:114428717-114428718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191907591	chr2:114428734-114428735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148281984	chr2:114428738-114428739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12619214	chr2:114428769-114428770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549398999	chr2:114428790-114428791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568894877	chr2:114428801-114428802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573932371	chr2:114428822-114428823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13024574	chr2:114428843-114428844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186633454	chr2:114428848-114428849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577830112	chr2:114428885-114428886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191442100	chr2:114428887-114428888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142883809	chr2:114428913-114428914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183647271	chr2:114428917-114428918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542938995	chr2:114428937-114428938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562535077	chr2:114428941-114428942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576080716	chr2:114428944-114428945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536675702	chr2:114429040-114429041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545140914	chr2:114429041-114429042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564934109	chr2:114429122-114429123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187792734	chr2:114429136-114429137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547615619	chr2:114429189-114429190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12616463	chr2:114429202-114429203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs3811060	chr2:114429211-114429212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs530036338	chr2:114429304-114429305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192953670	chr2:114429419-114429420	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs573252525	chr2:114429452-114429453	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs536903243	chr2:114429462-114429463	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs185112516	chr2:114429484-114429485	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs13003858	chr2:114429542-114429543	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs571457186	chr2:114429545-114429546	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114424800-114433400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:114429400-114430600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
3	chr2:114429400-114430600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:114429400-114430600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:114429400-114430800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:114429400-114434800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:114429600-114430000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:114429600-114430200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:114429600-114430400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:114429600-114430600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr2:114429600-114430600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:114429600-114430600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:114429600-114431000	Enhancers	HUES48 Cell Line	embryonic stem cell

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