Variant report

Variant	nsv874482
Chromosome Location	chr2:87293789-87410663
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:849)
CpG islands
(count:671)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:849 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:87303415-87304067	K562	blood:	n/a	n/a
2	BATF	chr2:87378985-87379249	GM12878	blood:	n/a	n/a
3	BATF	chr2:87303894-87304136	GM12878	blood:	n/a	n/a
4	BATF	chr2:87299212-87299437	GM12878	blood:	n/a	n/a
5	BATF	chr2:87359687-87360006	GM12878	blood:	n/a	n/a
6	BATF	chr2:87355800-87356278	GM12878	blood:	n/a	n/a
7	BATF	chr2:87303340-87303849	GM12878	blood:	n/a	n/a
8	BATF	chr2:87359765-87360029	GM12878	blood:	n/a	n/a
9	BATF	chr2:87355904-87356145	GM12878	blood:	n/a	n/a
10	BCL11A	chr2:87359630-87360025	GM12878	blood:	n/a	n/a
11	BCL11A	chr2:87359379-87359570	GM12878	blood:	n/a	n/a
12	BCL11A	chr2:87304285-87304456	GM12878	blood:	n/a	n/a
13	BCL11A	chr2:87303323-87303874	GM12878	blood:	n/a	n/a
14	BCL11A	chr2:87303316-87304131	GM12878	blood:	n/a	chr2:87303874-87303883
15	BCL11A	chr2:87359754-87359999	GM12878	blood:	n/a	n/a
16	BHLHE40	chr2:87297701-87297910	GM12878	blood:	n/a	n/a
17	BHLHE40	chr2:87303369-87303773	A549	lung:	n/a	n/a
18	BHLHE40	chr2:87302885-87304239	GM12878	blood:	n/a	n/a
19	BHLHE40	chr2:87303069-87304197	K562	blood:	n/a	n/a
20	BHLHE40	chr2:87379611-87379849	HepG2	liver:	n/a	n/a
21	BHLHE40	chr2:87303382-87303879	HepG2	liver:	n/a	n/a
22	BHLHE40	chr2:87303347-87304264	HepG2	liver:	n/a	n/a
23	BHLHE40	chr2:87297693-87297913	K562	blood:	n/a	n/a
24	BRCA1	chr2:87303521-87304094	Hela-S3	cervix:	n/a	n/a
25	CBX3	chr2:87313277-87313606	K562	blood:	n/a	n/a
26	CBX3	chr2:87313232-87313648	K562	blood:	n/a	n/a
27	CBX3	chr2:87303436-87304358	K562	blood:	n/a	n/a
28	CBX3	chr2:87303363-87304521	K562	blood:	n/a	n/a
29	CEBPB	chr2:87297550-87297867	IMR90	lung:	n/a	chr2:87297725-87297738
30	CEBPB	chr2:87297689-87297891	H1-hESC	embryonic stem cell:	n/a	chr2:87297725-87297738
31	CEBPB	chr2:87297696-87297950	K562	blood:	n/a	chr2:87297725-87297738
32	CEBPB	chr2:87303428-87303729	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr2:87310975-87311245	K562	blood:	n/a	n/a
34	CEBPB	chr2:87300068-87300417	K562	blood:	n/a	n/a
35	CEBPD	chr2:87303387-87303646	HepG2	liver:	n/a	n/a
36	CEBPD	chr2:87303388-87303588	HepG2	liver:	n/a	n/a
37	CHD1	chr2:87303119-87304348	GM12878	blood:	n/a	chr2:87303892-87303902 chr2:87303553-87303563
38	CHD1	chr2:87302960-87303809	IMR90	lung:	n/a	chr2:87303553-87303563
39	CHD1	chr2:87303114-87304272	H1-hESC	embryonic stem cell:	n/a	chr2:87303892-87303902 chr2:87303553-87303563
40	CHD2	chr2:87303378-87303736	HepG2	liver:	n/a	chr2:87303553-87303563
41	CHD2	chr2:87303061-87304270	Hela-S3	cervix:	n/a	chr2:87303892-87303902 chr2:87303553-87303563
42	CHD2	chr2:87303408-87304053	K562	blood:	n/a	chr2:87303892-87303902 chr2:87303553-87303563
43	CHD2	chr2:87303399-87304194	GM12878	blood:	n/a	chr2:87303892-87303902 chr2:87303553-87303563
44	CTCF	chr2:87302631-87302647	GM19240	blood:	n/a	n/a
45	CTCF	chr2:87333063-87333181	Lung_OC	lung:	n/a	n/a
46	CTCF	chr2:87378930-87379321	A549	lung:	n/a	n/a
47	CTCF	chr2:87379015-87379295	Medullo	brain:	n/a	n/a
48	CTCF	chr2:87302500-87302650	AG04449	skin:	n/a	n/a
49	CTCF	chr2:87379044-87379243	GM10248	blood:	n/a	n/a
50	CTCF	chr2:87303700-87303711	MCF-7	breast:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:87304197-87304247	HRCEpiC	kidney:	n/a
2	chr2:87304216-87304266	AG09319	gingival:	n/a
3	chr2:87304105-87304155	AG04449	skin:	fetal
4	chr2:87304216-87304266	GM12878	blood:	n/a
5	chr2:87304105-87304155	HL-60	blood:	n/a
6	chr2:87304197-87304247	ovcar-3	ovarian:	n/a
7	chr2:87304216-87304266	NHBE	bronchial:	n/a
8	chr2:87305913-87305963	PrEC	prostate:	n/a
9	chr2:87304015-87304065	T-47D	breast:	n/a
10	chr2:87304105-87304155	Caco-2	colon:	n/a
11	chr2:87305913-87305963	PFSK-1	brain:	n/a
12	chr2:87304105-87304155	AoSMC	blood vessel:	n/a
13	chr2:87304105-87304155	NT2-D1	testis:	n/a
14	chr2:87304894-87304944	HUVEC	blood vessel:	n/a
15	chr2:87302643-87302693	Caco-2	colon:	n/a
16	chr2:87302855-87302905	HRPEpiC	eye:	n/a
17	chr2:87302162-87302212	H1-hESC	embryonic stem cell:	embryo
18	chr2:87304105-87304155	HIPEpiC	eye:	n/a
19	chr2:87302162-87302212	HCF	heart:	n/a
20	chr2:87308486-87308536	MCF-7	breast:	n/a
21	chr2:87302162-87302212	AG09309	skin:	n/a
22	chr2:87302643-87302693	SK-N-SH_RA	brain:	n/a
23	chr2:87302643-87302693	HEK293	kidney:	embryo
24	chr2:87304216-87304266	HCPEpiC	choroid plexus:	n/a
25	chr2:87302162-87302212	T-47D	breast:	n/a
26	chr2:87304105-87304155	BJ	skin:	n/a
27	chr2:87305913-87305963	NT2-D1	testis:	n/a
28	chr2:87302643-87302693	GM12878	blood:	n/a
29	chr2:87304894-87304944	HRPEpiC	eye:	n/a
30	chr2:87304216-87304266	U87	brain:	n/a
31	chr2:87304105-87304155	SK-N-SH_RA	brain:	n/a
32	chr2:87304197-87304247	HCF	heart:	n/a
33	chr2:87304894-87304944	NHDF-neo	bronchial:	n/a
34	chr2:87308486-87308536	SK-N-MC	brain:	n/a
35	chr2:87305913-87305963	AG09319	gingival:	n/a
36	chr2:87304105-87304155	Jurkat	blood:	n/a
37	chr2:87304105-87304155	GM06990	blood:	n/a
38	chr2:87305913-87305963	HCPEpiC	choroid plexus:	n/a
39	chr2:87304015-87304065	HepG2	liver:	n/a
40	chr2:87303632-87303682	SK-N-MC	brain:	n/a
41	chr2:87305913-87305963	HEEpiC	esophagus:	n/a
42	chr2:87304105-87304155	HRE	kidney:	n/a
43	chr2:87304015-87304065	MCF-7	breast:	n/a
44	chr2:87304197-87304247	HPAEpiC	pulmonary alveolar:	n/a
45	chr2:87304216-87304266	NT2-D1	testis:	n/a
46	chr2:87302855-87302905	NHDF-neo	bronchial:	n/a
47	chr2:87304197-87304247	SKMC	muscle:	n/a
48	chr2:87302643-87302693	HEEpiC	esophagus:	n/a
49	chr2:87304105-87304155	HCM	heart:	n/a
50	chr2:87304216-87304266	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:87281176..87283798-chr2:87302577..87304633,2	MCF-7	breast:
2	chr2:86789024..86791664-chr2:87302659..87304185,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLGLB1-3	chr2:87405044-87405069	l_1879_chr2:87403978-87405069_thyroid
2	lnc-PLGLB1-3	chr2:87404223-87404330	l_1879_chr2:87403978-87405069_thyroid
3	lnc-PLGLB1-3	chr2:87403979-87404208	l_1879_chr2:87403978-87405069_thyroid

No data

Variant related genes	Relation type
ENSG00000230395	TF binding region
ENSG00000231259	TF binding region
ENSG00000204745	TF binding region
ENSG00000230395	CpG island
ENSG00000231259	CpG island
ENSG00000204745	CpG island
ENSG00000228363	chromatin interactions
ENSG00000266931	chromatin interactions
ENSG00000115561	chromatin interactions

Extended variants
information (count: 749 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:749 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374417540	chr2:87293900-87293901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553845617	chr2:87294015-87294016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565621758	chr2:87294133-87294134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386648188	chr2:87294189-87294190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199721971	chr2:87294191-87294192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192433994	chr2:87294195-87294196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557464153	chr2:87294208-87294209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576713469	chr2:87294215-87294216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2612891	chr2:87294217-87294218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs544137323	chr2:87294238-87294239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556067747	chr2:87294274-87294275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574301052	chr2:87294312-87294313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541624461	chr2:87294314-87294315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11901573	chr2:87294322-87294323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559827322	chr2:87294326-87294327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533265718	chr2:87294358-87294359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201790553	chr2:87294416-87294417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545427620	chr2:87294417-87294418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563545324	chr2:87294457-87294458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199784814	chr2:87294576-87294577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530770521	chr2:87294593-87294594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555790972	chr2:87294606-87294607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567978318	chr2:87294620-87294621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs67043623	chr2:87294677-87294678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs58616487	chr2:87294680-87294681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377176876	chr2:87294806-87294807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547252294	chr2:87294821-87294822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184976776	chr2:87294822-87294823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2612893	chr2:87294833-87294834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539149154	chr2:87294848-87294849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2612894	chr2:87294855-87294856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113386160	chr2:87294910-87294911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191537882	chr2:87294918-87294919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369580477	chr2:87294920-87294921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200314241	chr2:87294939-87294940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62144407	chr2:87294960-87294961	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs537010348	chr2:87294980-87294981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556130971	chr2:87294984-87294985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184848743	chr2:87295002-87295003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541658557	chr2:87295023-87295024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553283329	chr2:87295173-87295174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs578095016	chr2:87295263-87295264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545178072	chr2:87295281-87295282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563771538	chr2:87295297-87295298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370732282	chr2:87295342-87295343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530827159	chr2:87295362-87295363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189405721	chr2:87295365-87295366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375346972	chr2:87295395-87295396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561673835	chr2:87295398-87295399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529147365	chr2:87295408-87295409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Ovarian cancer	21781307	CNVD

Chromatin state (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:87275600-87302000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr2:87276400-87295400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr2:87276400-87295400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:87276600-87302000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr2:87279200-87302000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:87280600-87295200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:87281800-87299600	Weak transcription	Dnd41	blood
8	chr2:87281800-87300600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:87287800-87297000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:87287800-87302000	Weak transcription	Adipose Nuclei	Adipose
11	chr2:87291600-87294000	Weak transcription	Liver	Liver
12	chr2:87292200-87302000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:87293600-87294200	Weak transcription	Thymus	Thymus
14	chr2:87293800-87294000	Enhancers	Pancreas	Pancrea
15	chr2:87293800-87294200	Enhancers	Left Ventricle	heart
16	chr2:87293800-87294400	Enhancers	Brain Anterior Caudate	brain
17	chr2:87294000-87294200	Enhancers	Brain Angular Gyrus	brain
18	chr2:87294000-87294200	Enhancers	Fetal Heart	heart
19	chr2:87294000-87294200	Enhancers	Ovary	ovary
20	chr2:87294000-87294200	Enhancers	Psoas Muscle	Psoas
21	chr2:87294000-87294600	Enhancers	Liver	Liver
22	chr2:87294000-87302200	Weak transcription	Pancreas	Pancrea
23	chr2:87294200-87294400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr2:87294200-87294400	Enhancers	Right Atrium	heart
25	chr2:87294200-87294400	Enhancers	Thymus	Thymus
26	chr2:87294200-87294800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr2:87294200-87295200	Weak transcription	Left Ventricle	heart
28	chr2:87294200-87297000	Weak transcription	Ovary	ovary
29	chr2:87294200-87299400	Weak transcription	Brain Angular Gyrus	brain
30	chr2:87294200-87302000	Weak transcription	Psoas Muscle	Psoas
31	chr2:87294400-87295400	Weak transcription	Brain Anterior Caudate	brain
32	chr2:87294400-87297000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:87294400-87297000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:87294400-87297000	Weak transcription	Thymus	Thymus
35	chr2:87294600-87295000	Weak transcription	Liver	Liver
36	chr2:87294600-87302000	Weak transcription	Right Atrium	heart
37	chr2:87294800-87302000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:87295000-87295600	Enhancers	Liver	Liver
39	chr2:87295200-87295400	Enhancers	Brain Substantia Nigra	brain
40	chr2:87295200-87295600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr2:87295200-87295600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:87295200-87295600	Enhancers	Left Ventricle	heart
43	chr2:87295200-87295600	Enhancers	Lung	lung
44	chr2:87295200-87295600	Enhancers	Small Intestine	intestine
45	chr2:87295400-87295600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:87295400-87295600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:87295400-87295600	Enhancers	Brain Hippocampus Middle	brain
48	chr2:87295400-87295800	Enhancers	Brain Anterior Caudate	brain
49	chr2:87295400-87296200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr2:87295400-87296200	Enhancers	Primary T helper cells fromperipheralblood	blood

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