Variant report

Variant	nsv979034
Chromosome Location	chr2:87237012-87276522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:358)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr2:87268726-87268964	GM12878	blood:	n/a	n/a
2	BHLHE40	chr2:87238411-87238622	HepG2	liver:	n/a	n/a
3	BHLHE40	chr2:87241774-87242338	HepG2	liver:	n/a	n/a
4	BHLHE40	chr2:87248819-87249126	HepG2	liver:	n/a	n/a
5	BHLHE40	chr2:87268170-87268408	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:87268904-87269107	Hela-S3	cervix:	n/a	n/a
7	CEBPD	chr2:87252971-87253322	K562	blood:	n/a	n/a
8	CTCF	chr2:87268780-87268930	AG04449	skin:	n/a	n/a
9	CTCF	chr2:87268850-87268949	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr2:87268741-87269013	LNCaP	prostate:	n/a	n/a
11	CTCF	chr2:87268820-87268970	HCT-116	colon:	n/a	n/a
12	CTCF	chr2:87268820-87268970	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr2:87253171-87253258	ProgFib	skin:	n/a	n/a
14	CTCF	chr2:87268828-87268978	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr2:87268780-87268930	GM12873	blood:	n/a	n/a
16	CTCF	chr2:87268780-87268930	NHEK	skin:	n/a	n/a
17	CTCF	chr2:87268800-87268950	WI-38	lung:	n/a	n/a
18	CTCF	chr2:87268920-87269070	HPF	lung:	n/a	n/a
19	CTCF	chr2:87268811-87268991	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr2:87268820-87268970	GM12873	blood:	n/a	n/a
21	CTCF	chr2:87268857-87268940	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr2:87268820-87268970	HVMF	connective:	n/a	n/a
23	CTCF	chr2:87253102-87253359	K562	blood:	n/a	chr2:87253255-87253276 chr2:87253254-87253270 chr2:87253253-87253271 chr2:87253256-87253265
24	CTCF	chr2:87268729-87269098	A549	lung:	n/a	n/a
25	CTCF	chr2:87268637-87269114	A549	lung:	n/a	n/a
26	CTCF	chr2:87268920-87269070	GM12872	blood:	n/a	n/a
27	CTCF	chr2:87268820-87268970	GM12865	blood:	n/a	n/a
28	CTCF	chr2:87268784-87269018	LNCaP	prostate:	n/a	n/a
29	CTCF	chr2:87253183-87253245	GM19240	blood:	n/a	n/a
30	CTCF	chr2:87253177-87253355	LNCaP	prostate:	n/a	chr2:87253255-87253276 chr2:87253254-87253270 chr2:87253253-87253271 chr2:87253256-87253265
31	CTCF	chr2:87268780-87268930	AG09309	skin:	n/a	n/a
32	CTCF	chr2:87268820-87268970	BE2_C	brain:	n/a	n/a
33	CTCF	chr2:87268820-87268970	AG04450	lung:	n/a	n/a
34	CTCF	chr2:87253115-87253320	Hela-S3	cervix:	n/a	chr2:87253255-87253276 chr2:87253254-87253270 chr2:87253253-87253271 chr2:87253256-87253265
35	CTCF	chr2:87251296-87251356	Medullo	brain:	n/a	n/a
36	CTCF	chr2:87268780-87268930	BJ	skin:	n/a	n/a
37	CTCF	chr2:87268803-87269018	Lung_OC	lung:	n/a	n/a
38	CTCF	chr2:87268777-87269045	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr2:87268820-87268970	HFF-Myc	foreskin:	n/a	n/a
40	CTCF	chr2:87253300-87253450	A549	lung:	n/a	n/a
41	CTCF	chr2:87268806-87269014	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr2:87268780-87268930	HMEC	breast:	n/a	n/a
43	CTCF	chr2:87253172-87253315	GM10266	blood:	n/a	chr2:87253255-87253276 chr2:87253254-87253270 chr2:87253253-87253271 chr2:87253256-87253265
44	CTCF	chr2:87268780-87268930	HepG2	liver:	n/a	n/a
45	CTCF	chr2:87268800-87269017	Pancreas_OC	pancreas:	n/a	n/a
46	CTCF	chr2:87268820-87268970	NHLF	lung:	n/a	n/a
47	CTCF	chr2:87253178-87253350	GM13977	blood:	n/a	chr2:87253255-87253276 chr2:87253254-87253270 chr2:87253253-87253271 chr2:87253256-87253265
48	CTCF	chr2:87268780-87268930	AG10803	skin:	n/a	n/a
49	CTCF	chr2:87268780-87268930	HEK293	kidney:	n/a	n/a
50	CTCF	chr2:87268748-87269013	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:87238274-87238324	HepG2	liver:	n/a
2	chr2:87238274-87238324	RPTEC	kidney:	n/a
3	chr2:87238274-87238324	HCM	heart:	n/a
4	chr2:87238274-87238324	PrEC	prostate:	n/a
5	chr2:87246221-87246271	AG10803	skin:	n/a
6	chr2:87246221-87246271	NHBE	bronchial:	n/a
7	chr2:87246221-87246271	T-47D	breast:	n/a
8	chr2:87238274-87238324	HMEC	breast:	n/a
9	chr2:87246221-87246271	HRPEpiC	eye:	n/a
10	chr2:87246221-87246271	MCF10A-Er-Src	breast:	n/a
11	chr2:87246221-87246271	PFSK-1	brain:	n/a
12	chr2:87246221-87246271	HCM	heart:	n/a
13	chr2:87238274-87238324	AG09319	gingival:	n/a
14	chr2:87238274-87238324	PANC-1	pancreas:	n/a
15	chr2:87246221-87246271	GM12892	blood:	n/a
16	chr2:87246221-87246271	HL-60	blood:	n/a
17	chr2:87238274-87238324	H1-hESC	embryonic stem cell:	embryo
18	chr2:87238274-87238324	HRE	kidney:	n/a
19	chr2:87238274-87238324	SKMC	muscle:	n/a
20	chr2:87246221-87246271	ProgFib	skin:	n/a
21	chr2:87246221-87246271	Hela-S3	cervix:	n/a
22	chr2:87238274-87238324	HL-60	blood:	n/a
23	chr2:87246221-87246271	IMR90	lung:	fetal
24	chr2:87246221-87246271	SK-N-SH_RA	brain:	n/a
25	chr2:87246221-87246271	HUVEC	blood vessel:	n/a
26	chr2:87238274-87238324	U87	brain:	n/a
27	chr2:87246221-87246271	GM12891	blood:	n/a
28	chr2:87246221-87246271	AoSMC	blood vessel:	n/a
29	chr2:87246221-87246271	HPAEpiC	pulmonary alveolar:	n/a
30	chr2:87238274-87238324	HCF	heart:	n/a
31	chr2:87238274-87238324	GM19239	blood:	n/a
32	chr2:87238274-87238324	ovcar-3	ovarian:	n/a
33	chr2:87246221-87246271	GM19239	blood:	n/a
34	chr2:87246221-87246271	ECC-1	luminal epithelium:	n/a
35	chr2:87238274-87238324	AG04449	skin:	fetal
36	chr2:87246221-87246271	HMEC	breast:	n/a
37	chr2:87246221-87246271	HRCEpiC	kidney:	n/a
38	chr2:87238274-87238324	NB4	blood:	n/a
39	chr2:87246221-87246271	MCF-7	breast:	n/a
40	chr2:87238274-87238324	BE2_C	brain:	n/a
41	chr2:87238274-87238324	SK-N-SH_RA	brain:	n/a
42	chr2:87246221-87246271	ovcar-3	ovarian:	n/a
43	chr2:87246221-87246271	HEK293	kidney:	embryo
44	chr2:87246221-87246271	HEEpiC	esophagus:	n/a
45	chr2:87238274-87238324	GM12878	blood:	n/a
46	chr2:87238274-87238324	HCT-116	colon:	n/a
47	chr2:87246221-87246271	HCF	heart:	n/a
48	chr2:87246221-87246271	GM06990	blood:	n/a
49	chr2:87246221-87246271	SAEC	small airway:	n/a
50	chr2:87246221-87246271	NT2-D1	testis:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD8B-3	chr2:87239425-87240242	NONHSAT072124
2	lnc-CD8B-3	chr2:87243425-87243531	NONHSAT072124
3	lnc-CD8B-3	chr2:87244676-87245831	NONHSAT072124

No data

Variant related genes	Relation type
PLGLB1	TF binding region
PLGLB1	CpG island

Extended variants
information (count: 310 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62148336	chr2:87239696-87239697	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs1586	chr2:87239747-87239748	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs1588	chr2:87239825-87239826	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs569652337	chr2:87240080-87240081	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs536926720	chr2:87240087-87240088	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs548955350	chr2:87240117-87240118	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs567446365	chr2:87240134-87240135	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs534479164	chr2:87240137-87240138	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs201498783	chr2:87243445-87243446	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs199807815	chr2:87243478-87243479	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs199986885	chr2:87243501-87243502	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs555266997	chr2:87243518-87243519	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs202013509	chr2:87244806-87244807	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs201085460	chr2:87244921-87244922	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs536261474	chr2:87245515-87245516	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs372849384	chr2:87245549-87245550	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs554255160	chr2:87246170-87246171	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs377440834	chr2:87246194-87246195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs567184425	chr2:87246222-87246223	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs370594996	chr2:87246237-87246238	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs377236677	chr2:87246241-87246242	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs2138304	chr2:87246280-87246281	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs534223188	chr2:87246485-87246486	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs558766876	chr2:87246491-87246492	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs577034024	chr2:87246518-87246519	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs544354263	chr2:87246578-87246579	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs200611872	chr2:87246586-87246587	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs201581110	chr2:87246609-87246610	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs62148342	chr2:87246686-87246687	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs367587311	chr2:87248068-87248069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs371464997	chr2:87248101-87248102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs528429856	chr2:87248111-87248112	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs540521478	chr2:87248186-87248187	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs565134790	chr2:87248320-87248321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs532348860	chr2:87248350-87248351	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs550762636	chr2:87248367-87248368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs569010023	chr2:87248429-87248430	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs529735224	chr2:87248451-87248452	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs112428780	chr2:87248461-87248462	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs566335227	chr2:87248788-87248789	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs533741962	chr2:87248840-87248841	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs558829030	chr2:87248903-87248904	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs570782885	chr2:87248917-87248918	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs62148344	chr2:87249059-87249060	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs538064050	chr2:87249134-87249135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs556322041	chr2:87249139-87249140	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs574905386	chr2:87249163-87249164	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs541952652	chr2:87249225-87249226	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs111706611	chr2:87249335-87249336	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs529837635	chr2:87249993-87249994	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
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
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	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
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:87258800-87283200	Weak transcription	Fetal Intestine Small	intestine
2	chr2:87259200-87281600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:87268600-87280600	Weak transcription	Colonic Mucosa	Colon
4	chr2:87271800-87277200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:87271800-87277600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:87271800-87282200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:87275000-87277200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:87275200-87281000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:87275200-87283000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:87275400-87277200	Weak transcription	Fetal Thymus	thymus
11	chr2:87275600-87277200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:87275600-87277200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:87275600-87277400	Weak transcription	Dnd41	blood
14	chr2:87275600-87284000	Weak transcription	Fetal Stomach	stomach
15	chr2:87275600-87302000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:87275800-87277400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:87276000-87277600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:87276000-87280800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:87276000-87281400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr2:87276200-87278800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:87276200-87285200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:87276400-87278800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:87276400-87282400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:87276400-87283400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:87276400-87283800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:87276400-87285000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:87276400-87295400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:87276400-87295400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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