Variant report

Variant	nsv979105
Chromosome Location	chr2:114192364-114228793
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:587)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:587 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:114195252-114195468	K562	blood:	n/a	n/a
2	ATF3	chr2:114195215-114195323	K562	blood:	n/a	n/a
3	BATF	chr2:114196059-114196346	GM12878	blood:	n/a	n/a
4	BATF	chr2:114196999-114197200	GM12878	blood:	n/a	n/a
5	BATF	chr2:114214368-114214841	GM12878	blood:	n/a	n/a
6	BATF	chr2:114221639-114221843	GM12878	blood:	n/a	n/a
7	BATF	chr2:114196004-114196344	GM12878	blood:	n/a	n/a
8	BATF	chr2:114209720-114209940	GM12878	blood:	n/a	n/a
9	BATF	chr2:114194949-114195748	GM12878	blood:	n/a	chr2:114195333-114195346
10	BATF	chr2:114217254-114217816	GM12878	blood:	n/a	n/a
11	BATF	chr2:114194968-114195790	GM12878	blood:	n/a	chr2:114195333-114195346
12	BATF	chr2:114206835-114207033	GM12878	blood:	n/a	n/a
13	BATF	chr2:114217280-114217821	GM12878	blood:	n/a	n/a
14	BATF	chr2:114217887-114218111	GM12878	blood:	n/a	n/a
15	BATF	chr2:114206782-114207175	GM12878	blood:	n/a	n/a
16	BATF	chr2:114216587-114216848	GM12878	blood:	n/a	n/a
17	BCL11A	chr2:114217288-114217875	GM12878	blood:	n/a	n/a
18	BCL11A	chr2:114214598-114214952	GM12878	blood:	n/a	n/a
19	BCL11A	chr2:114198307-114198538	GM12878	blood:	n/a	n/a
20	BCL11A	chr2:114206565-114206813	GM12878	blood:	n/a	n/a
21	BCL11A	chr2:114221142-114221444	GM12878	blood:	n/a	n/a
22	BCL11A	chr2:114221827-114222010	GM12878	blood:	n/a	n/a
23	BCL11A	chr2:114214317-114214657	GM12878	blood:	n/a	n/a
24	BCL11A	chr2:114216516-114216944	GM12878	blood:	n/a	n/a
25	BCL11A	chr2:114208376-114208816	GM12878	blood:	n/a	n/a
26	BCL11A	chr2:114196588-114196773	GM12878	blood:	n/a	n/a
27	BCL11A	chr2:114209863-114210125	GM12878	blood:	n/a	n/a
28	BCL11A	chr2:114195894-114196377	GM12878	blood:	n/a	n/a
29	BCL11A	chr2:114194953-114196275	GM12878	blood:	n/a	n/a
30	BCL11A	chr2:114220336-114220741	GM12878	blood:	n/a	n/a
31	BCL11A	chr2:114194982-114195839	GM12878	blood:	n/a	n/a
32	BCL11A	chr2:114217254-114217924	GM12878	blood:	n/a	n/a
33	BCL11A	chr2:114206875-114207274	GM12878	blood:	n/a	n/a
34	BHLHE40	chr2:114202819-114203037	HepG2	liver:	n/a	n/a
35	BHLHE40	chr2:114195343-114195459	K562	blood:	n/a	n/a
36	BHLHE40	chr2:114207162-114207318	HepG2	liver:	n/a	n/a
37	BHLHE40	chr2:114195056-114195606	HepG2	liver:	n/a	n/a
38	CBX3	chr2:114195008-114195591	K562	blood:	n/a	n/a
39	CEBPB	chr2:114195126-114195722	GM12878	blood:	n/a	n/a
40	CEBPB	chr2:114214647-114214929	K562	blood:	n/a	chr2:114214818-114214827 chr2:114214818-114214827 chr2:114214891-114214902 chr2:114214816-114214829 chr2:114214818-114214827 chr2:114214818-114214829 chr2:114214891-114214904 chr2:114214818-114214827 chr2:114214816-114214829
41	CEBPD	chr2:114195171-114195644	K562	blood:	n/a	n/a
42	CHD2	chr2:114195270-114195454	K562	blood:	n/a	n/a
43	CHD2	chr2:114195268-114195460	HepG2	liver:	n/a	n/a
44	CHD2	chr2:114195267-114195459	Hela-S3	cervix:	n/a	n/a
45	CREB1	chr2:114195159-114195516	A549	lung:	n/a	chr2:114195333-114195346
46	CREB1	chr2:114195194-114195333	A549	lung:	n/a	n/a
47	CTCF	chr2:114195084-114195191	LNCaP	prostate:	n/a	n/a
48	CTCF	chr2:114198236-114198630	K562	blood:	n/a	chr2:114198450-114198466 chr2:114198449-114198467 chr2:114198456-114198464
49	CTCF	chr2:114198216-114198643	A549	lung:	n/a	chr2:114198450-114198466 chr2:114198449-114198467 chr2:114198456-114198464
50	CTCF	chr2:114198271-114198619	A549	lung:	n/a	chr2:114198450-114198466 chr2:114198449-114198467 chr2:114198456-114198464

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:114194541-114194591	NHBE	bronchial:	n/a
2	chr2:114197839-114197889	PFSK-1	brain:	n/a
3	chr2:114197839-114197889	SAEC	small airway:	n/a
4	chr2:114194541-114194591	SAEC	small airway:	n/a
5	chr2:114206313-114206363	PANC-1	pancreas:	n/a
6	chr2:114196091-114196141	GM12892	blood:	n/a
7	chr2:114196091-114196141	Hepatocyte	liver:	n/a
8	chr2:114194645-114194695	T-47D	breast:	n/a
9	chr2:114206313-114206363	GM06990	blood:	n/a
10	chr2:114206313-114206363	HEEpiC	esophagus:	n/a
11	chr2:114196091-114196141	PFSK-1	brain:	n/a
12	chr2:114194645-114194695	Hepatocyte	liver:	n/a
13	chr2:114195528-114195578	IMR90	lung:	fetal
14	chr2:114195528-114195578	GM19239	blood:	n/a
15	chr2:114196091-114196141	A549	lung:	n/a
16	chr2:114195528-114195578	PFSK-1	brain:	n/a
17	chr2:114206313-114206363	MCF-7	breast:	n/a
18	chr2:114196091-114196141	AG04449	skin:	fetal
19	chr2:114196058-114196108	HCPEpiC	choroid plexus:	n/a
20	chr2:114195528-114195578	HCF	heart:	n/a
21	chr2:114197839-114197889	HL-60	blood:	n/a
22	chr2:114206313-114206363	HAEpiC	amniotic membrane:	n/a
23	chr2:114206313-114206363	NHBE	bronchial:	n/a
24	chr2:114196058-114196108	SKMC	muscle:	n/a
25	chr2:114196058-114196108	U87	brain:	n/a
26	chr2:114196058-114196108	H1-hESC	embryonic stem cell:	embryo
27	chr2:114196058-114196108	BJ	skin:	n/a
28	chr2:114206313-114206363	CMK	blood:	n/a
29	chr2:114197839-114197889	GM12878	blood:	n/a
30	chr2:114194541-114194591	HEK293	kidney:	embryo
31	chr2:114206313-114206363	HRE	kidney:	n/a
32	chr2:114206313-114206363	HRPEpiC	eye:	n/a
33	chr2:114196058-114196108	Caco-2	colon:	n/a
34	chr2:114206313-114206363	Jurkat	blood:	n/a
35	chr2:114194541-114194591	SK-N-SH	brain:	n/a
36	chr2:114195528-114195578	MCF10A-Er-Src	breast:	n/a
37	chr2:114196091-114196141	Hela-S3	cervix:	n/a
38	chr2:114197839-114197889	K562	blood:	n/a
39	chr2:114194541-114194591	HRE	kidney:	n/a
40	chr2:114194645-114194695	HUVEC	blood vessel:	n/a
41	chr2:114206313-114206363	PrEC	prostate:	n/a
42	chr2:114194541-114194591	RPTEC	kidney:	n/a
43	chr2:114196058-114196108	HAEpiC	amniotic membrane:	n/a
44	chr2:114194541-114194591	T-47D	breast:	n/a
45	chr2:114194541-114194591	HIPEpiC	eye:	n/a
46	chr2:114196091-114196141	SAEC	small airway:	n/a
47	chr2:114194541-114194591	AG09319	gingival:	n/a
48	chr2:114197839-114197889	GM19239	blood:	n/a
49	chr2:114197839-114197889	IMR90	lung:	fetal
50	chr2:114197839-114197889	HNPCEpiC	eye:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CBWD2-2	chr2:114190177-114193619	ENSG00000272563.1

No data

Variant related genes	Relation type
ENSG00000238091	TF binding region
CBWD2	TF binding region
ENSG00000238091	CpG island
CBWD2	CpG island

Extended variants
information (count: 891 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:891 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536147662	chr2:114192511-114192512	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs556073131	chr2:114192626-114192627	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs529847928	chr2:114192649-114192650	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs568740691	chr2:114192673-114192674	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs2921815	chr2:114192702-114192703	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs367896694	chr2:114192752-114192753	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs557482732	chr2:114192778-114192779	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs577289523	chr2:114192790-114192791	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs111902842	chr2:114192812-114192813	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs13409019	chr2:114192862-114192863	Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs573537384	chr2:114192868-114192869	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs568023667	chr2:114192885-114192886	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs4849227	chr2:114192907-114192908	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs4849228	chr2:114192977-114192978	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs4849229	chr2:114193014-114193015	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs3977047	chr2:114193041-114193042	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs562828020	chr2:114193049-114193050	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs113845367	chr2:114193055-114193056	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs13411929	chr2:114193060-114193061	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs551733434	chr2:114193063-114193064	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs564478573	chr2:114193089-114193090	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs3977048	chr2:114193142-114193143	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs533425521	chr2:114193182-114193183	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs547156861	chr2:114193210-114193211	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs3961320	chr2:114193272-114193273	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs2992850	chr2:114193285-114193286	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs567068764	chr2:114193372-114193373	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs529519873	chr2:114193384-114193385	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs549394582	chr2:114193396-114193397	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs2921816	chr2:114193446-114193447	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs569498672	chr2:114193460-114193461	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs538177214	chr2:114193516-114193517	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs76452437	chr2:114193547-114193548	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs201918608	chr2:114193678-114193679	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs551310980	chr2:114193728-114193729	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs570916941	chr2:114193735-114193736	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs189974441	chr2:114193819-114193820	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs553495415	chr2:114193849-114193850	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs573478322	chr2:114194096-114194097	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs536414889	chr2:114194414-114194415	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs181685487	chr2:114194496-114194497	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs2592404	chr2:114194530-114194531	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs544987115	chr2:114194614-114194615	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs142741365	chr2:114194653-114194654	Enhancers Weak transcription Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs570598292	chr2:114194739-114194740	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs200947977	chr2:114194782-114194783	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs566142530	chr2:114194917-114194918	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs578104955	chr2:114194928-114194929	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs540710381	chr2:114194963-114194964	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs560604605	chr2:114194975-114194976	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Malignant peripheral nerve sheath tumor	18522746	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
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114190200-114194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:114190200-114194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:114191200-114194200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:114191200-114195000	Weak transcription	Primary B cells from cord blood	blood
5	chr2:114191200-114195000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:114191400-114194200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:114191400-114194600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr2:114191400-114194600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:114191400-114195400	Weak transcription	GM12878-XiMat	blood
10	chr2:114194200-114195000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr2:114194200-114195000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr2:114194600-114194800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:114194600-114194800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:114194600-114194800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr2:114194600-114195000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:114194600-114195000	Enhancers	Primary B cells from peripheral blood	blood
17	chr2:114194600-114195000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr2:114194600-114195000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:114194600-114195000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:114194600-114195000	Enhancers	Dnd41	blood
21	chr2:114194600-114195000	Enhancers	HUVEC	blood vessel
22	chr2:114194600-114195400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:114194800-114195800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:114195000-114195400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr2:114195000-114195600	Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr2:114195000-114195600	Active TSS	Primary B cells from peripheral blood	blood
27	chr2:114195000-114195600	Active TSS	Primary T cells fromperipheralblood	blood
28	chr2:114195000-114195600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:114195000-114195600	Active TSS	Adipose Nuclei	Adipose
30	chr2:114195000-114195800	Active TSS	Primary monocytes fromperipheralblood	blood
31	chr2:114195000-114195800	Active TSS	Primary B cells from cord blood	blood
32	chr2:114195000-114195800	Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr2:114195000-114195800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr2:114195000-114195800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:114195000-114195800	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr2:114195000-114195800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:114195000-114195800	Active TSS	Fetal Muscle Leg	muscle
38	chr2:114195000-114195800	Active TSS	Placenta	Placenta
39	chr2:114195000-114195800	Active TSS	Left Ventricle	heart
40	chr2:114195000-114195800	Active TSS	Psoas Muscle	Psoas
41	chr2:114195000-114195800	Active TSS	Stomach Smooth Muscle	stomach
42	chr2:114195000-114195800	Active TSS	Dnd41	blood
43	chr2:114195000-114195800	Active TSS	Osteobl	bone
44	chr2:114195000-114196000	Active TSS	Primary T cells from cord blood	blood
45	chr2:114195000-114196000	Active TSS	Primary hematopoietic stem cells	blood
46	chr2:114195000-114196000	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr2:114195000-114196000	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr2:114195000-114196000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:114195000-114196000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:114195000-114196000	Active TSS	Brain Angular Gyrus	brain

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