Variant report

Variant	nsv1005652
Chromosome Location	chr2:87322042-87445945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:87355800-87356278	GM12878	blood:	n/a	n/a
2	BATF	chr2:87359687-87360006	GM12878	blood:	n/a	n/a
3	BATF	chr2:87444879-87445258	GM12878	blood:	n/a	n/a
4	BATF	chr2:87355904-87356145	GM12878	blood:	n/a	n/a
5	BATF	chr2:87411594-87412112	GM12878	blood:	n/a	n/a
6	BATF	chr2:87359765-87360029	GM12878	blood:	n/a	n/a
7	BATF	chr2:87444976-87445145	GM12878	blood:	n/a	n/a
8	BATF	chr2:87378985-87379249	GM12878	blood:	n/a	n/a
9	BCL11A	chr2:87359379-87359570	GM12878	blood:	n/a	n/a
10	BCL11A	chr2:87359754-87359999	GM12878	blood:	n/a	n/a
11	BCL11A	chr2:87359630-87360025	GM12878	blood:	n/a	n/a
12	BCL11A	chr2:87420480-87420775	GM12878	blood:	n/a	n/a
13	BHLHE40	chr2:87444929-87445122	K562	blood:	n/a	n/a
14	BHLHE40	chr2:87379611-87379849	HepG2	liver:	n/a	n/a
15	BHLHE40	chr2:87444941-87445136	HepG2	liver:	n/a	n/a
16	BHLHE40	chr2:87423618-87423819	HepG2	liver:	n/a	n/a
17	CBX3	chr2:87429769-87430349	K562	blood:	n/a	n/a
18	CBX3	chr2:87444880-87445257	K562	blood:	n/a	n/a
19	CBX3	chr2:87429710-87430365	K562	blood:	n/a	n/a
20	CBX3	chr2:87444959-87445211	K562	blood:	n/a	n/a
21	CEBPB	chr2:87411396-87411767	H1-hESC	embryonic stem cell:	n/a	chr2:87411574-87411585
22	CEBPB	chr2:87411390-87411766	K562	blood:	n/a	chr2:87411574-87411585
23	CEBPB	chr2:87411390-87411768	HepG2	liver:	n/a	chr2:87411574-87411585
24	CEBPB	chr2:87411391-87411768	IMR90	lung:	n/a	chr2:87411574-87411585
25	CEBPB	chr2:87411390-87411768	A549	lung:	n/a	chr2:87411574-87411585
26	CEBPB	chr2:87411391-87411763	Hela-S3	cervix:	n/a	chr2:87411574-87411585
27	CEBPB	chr2:87411500-87411623	HepG2	liver:	n/a	chr2:87411574-87411585
28	CTCF	chr2:87420514-87420801	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr2:87420512-87420742	GM19238	blood:	n/a	n/a
30	CTCF	chr2:87444980-87445130	GM12873	blood:	n/a	chr2:87445082-87445095 chr2:87445085-87445093 chr2:87445080-87445098 chr2:87445081-87445097 chr2:87445082-87445095 chr2:87445075-87445096
31	CTCF	chr2:87333380-87333530	HepG2	liver:	n/a	n/a
32	CTCF	chr2:87441760-87441823	GM10266	blood:	n/a	n/a
33	CTCF	chr2:87333448-87333458	K562	blood:	n/a	n/a
34	CTCF	chr2:87444980-87445130	HCFaa	heart:	n/a	chr2:87445082-87445095 chr2:87445085-87445093 chr2:87445080-87445098 chr2:87445081-87445097 chr2:87445082-87445095 chr2:87445075-87445096
35	CTCF	chr2:87444820-87444970	RPTEC	kidney:	n/a	n/a
36	CTCF	chr2:87379029-87379257	GM13977	blood:	n/a	n/a
37	CTCF	chr2:87444820-87444970	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr2:87445020-87445170	NHDF-neo	bronchial:	n/a	chr2:87445082-87445095 chr2:87445085-87445093 chr2:87445080-87445098 chr2:87445081-87445097 chr2:87445082-87445095 chr2:87445075-87445096
39	CTCF	chr2:87420525-87420747	GM19239	blood:	n/a	n/a
40	CTCF	chr2:87333383-87333498	MCF-7	breast:	n/a	n/a
41	CTCF	chr2:87444820-87444970	HPF	lung:	n/a	n/a
42	CTCF	chr2:87444866-87445191	HepG2	liver:	n/a	chr2:87445082-87445095 chr2:87445085-87445093 chr2:87445080-87445098 chr2:87445081-87445097 chr2:87445082-87445095 chr2:87445075-87445096
43	CTCF	chr2:87416724-87416758	GM13976	blood:	n/a	n/a
44	CTCF	chr2:87379033-87379273	Pancreas_OC	pancreas:	n/a	n/a
45	CTCF	chr2:87444921-87445233	Fibrobl	skin:	n/a	chr2:87445082-87445095 chr2:87445085-87445093 chr2:87445080-87445098 chr2:87445081-87445097 chr2:87445082-87445095 chr2:87445075-87445096
46	CTCF	chr2:87445020-87445170	HAc	cerebellar:	n/a	chr2:87445082-87445095 chr2:87445085-87445093 chr2:87445080-87445098 chr2:87445081-87445097 chr2:87445082-87445095 chr2:87445075-87445096
47	CTCF	chr2:87444845-87445299	A549	lung:	n/a	chr2:87445082-87445095 chr2:87445085-87445093 chr2:87445080-87445098 chr2:87445081-87445097 chr2:87445082-87445095 chr2:87445075-87445096
48	CTCF	chr2:87444980-87445130	HEEpiC	esophagus:	n/a	chr2:87445082-87445095 chr2:87445085-87445093 chr2:87445080-87445098 chr2:87445081-87445097 chr2:87445082-87445095 chr2:87445075-87445096
49	CTCF	chr2:87444800-87444950	HCM	heart:	n/a	n/a
50	CTCF	chr2:87444960-87445110	SAEC	small airway:	n/a	chr2:87445082-87445095 chr2:87445085-87445093 chr2:87445080-87445098 chr2:87445081-87445097 chr2:87445082-87445095 chr2:87445075-87445096

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:87445161-87445211	ECC-1	luminal epithelium:	n/a
2	chr2:87420273-87420323	IMR90	lung:	fetal
3	chr2:87445161-87445211	HRE	kidney:	n/a
4	chr2:87420273-87420323	BE2_C	brain:	n/a
5	chr2:87420273-87420323	HRCEpiC	kidney:	n/a
6	chr2:87445161-87445211	ovcar-3	ovarian:	n/a
7	chr2:87445161-87445211	HCT-116	colon:	n/a
8	chr2:87420273-87420323	A549	lung:	n/a
9	chr2:87445161-87445211	SK-N-SH_RA	brain:	n/a
10	chr2:87445161-87445211	A549	lung:	n/a
11	chr2:87420273-87420323	SK-N-MC	brain:	n/a
12	chr2:87445161-87445211	AoSMC	blood vessel:	n/a
13	chr2:87420273-87420323	CMK	blood:	n/a
14	chr2:87445161-87445211	AG04450	lung:	fetal
15	chr2:87445161-87445211	NHDF-neo	bronchial:	n/a
16	chr2:87420273-87420323	Hepatocyte	liver:	n/a
17	chr2:87445161-87445211	HCPEpiC	choroid plexus:	n/a
18	chr2:87420273-87420323	PrEC	prostate:	n/a
19	chr2:87445161-87445211	SK-N-SH	brain:	n/a
20	chr2:87420273-87420323	Caco-2	colon:	n/a
21	chr2:87420273-87420323	HAEpiC	amniotic membrane:	n/a
22	chr2:87420273-87420323	GM12878	blood:	n/a
23	chr2:87420273-87420323	GM12891	blood:	n/a
24	chr2:87420273-87420323	LNCaP	prostate:	n/a
25	chr2:87420273-87420323	K562	blood:	n/a
26	chr2:87445161-87445211	ProgFib	skin:	n/a
27	chr2:87445161-87445211	GM12892	blood:	n/a
28	chr2:87420273-87420323	RPTEC	kidney:	n/a
29	chr2:87445161-87445211	IMR90	lung:	fetal
30	chr2:87445161-87445211	AG09319	gingival:	n/a
31	chr2:87445161-87445211	H1-hESC	embryonic stem cell:	embryo
32	chr2:87445161-87445211	HPAEpiC	pulmonary alveolar:	n/a
33	chr2:87445161-87445211	HCM	heart:	n/a
34	chr2:87445161-87445211	LNCaP	prostate:	n/a
35	chr2:87445161-87445211	HAEpiC	amniotic membrane:	n/a
36	chr2:87445161-87445211	Caco-2	colon:	n/a
37	chr2:87420273-87420323	ProgFib	skin:	n/a
38	chr2:87445161-87445211	Jurkat	blood:	n/a
39	chr2:87420273-87420323	HEEpiC	esophagus:	n/a
40	chr2:87420273-87420323	BJ	skin:	n/a
41	chr2:87445161-87445211	AG10803	skin:	n/a
42	chr2:87420273-87420323	HCPEpiC	choroid plexus:	n/a
43	chr2:87420273-87420323	MCF10A-Er-Src	breast:	n/a
44	chr2:87420273-87420323	AoSMC	blood vessel:	n/a
45	chr2:87445161-87445211	GM12878	blood:	n/a
46	chr2:87420273-87420323	NB4	blood:	n/a
47	chr2:87445161-87445211	Hepatocyte	liver:	n/a
48	chr2:87445161-87445211	CMK	blood:	n/a
49	chr2:87445161-87445211	U87	brain:	n/a
50	chr2:87445161-87445211	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:87431267..87434250-chr2:112516766..112518517,2	MCF-7	breast:
2	chr2:87444854..87445468-chr2:112505392..112505911,4	MCF-7	breast:

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

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4771	chr2:87421953-87421973	MIMAT0019925

Variant related genes	Relation type
MIR4771-2	TF binding region
ENSG00000230395	TF binding region
ENSG00000204745	TF binding region
MIR4771-2	CpG island
ENSG00000230395	CpG island
ENSG00000204745	CpG island

Extended variants
information (count: 341 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:341 , 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	rs181197916	chr2:87330311-87330312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2887047	chr2:87330312-87330313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185804325	chr2:87330322-87330323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2887048	chr2:87330370-87330371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569186069	chr2:87330371-87330372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2887049	chr2:87330405-87330406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537367024	chr2:87330423-87330424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2367685	chr2:87330433-87330434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2887050	chr2:87330437-87330438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555669444	chr2:87330439-87330440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371102893	chr2:87330481-87330482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567506141	chr2:87330506-87330507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534805847	chr2:87330564-87330565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553069698	chr2:87330609-87330610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191555644	chr2:87330621-87330622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577672979	chr2:87330627-87330628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2887051	chr2:87330633-87330634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545040060	chr2:87330654-87330655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115247827	chr2:87330667-87330668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556704096	chr2:87330681-87330682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2367686	chr2:87330682-87330683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182134036	chr2:87330724-87330725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369722484	chr2:87330736-87330737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563335576	chr2:87330756-87330757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530641494	chr2:87330760-87330761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561223733	chr2:87330790-87330791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186802419	chr2:87330806-87330807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373215710	chr2:87330807-87330808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540461597	chr2:87330841-87330842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565437922	chr2:87330860-87330861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367597653	chr2:87330901-87330902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532503510	chr2:87330928-87330929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551028042	chr2:87330939-87330940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569175329	chr2:87330958-87330959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530103758	chr2:87330975-87330976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549328143	chr2:87330983-87330984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567555744	chr2:87331041-87331042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs202170160	chr2:87331099-87331100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199650306	chr2:87331108-87331109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78789405	chr2:87331110-87331111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534871440	chr2:87331182-87331183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561100821	chr2:87331342-87331343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571389155	chr2:87331350-87331351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538370096	chr2:87331426-87331427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557002120	chr2:87331505-87331506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574921522	chr2:87331571-87331572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535841223	chr2:87331644-87331645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77908807	chr2:87331686-87331687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573210635	chr2:87331707-87331708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55662034	chr2:87331735-87331736	Weak transcription	n/a	n/a	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
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:87330200-87330600	Enhancers	Fetal Heart	heart
2	chr2:87330600-87331000	Weak transcription	Fetal Heart	heart
3	chr2:87331000-87331200	Enhancers	Fetal Heart	heart
4	chr2:87331200-87332000	Weak transcription	Fetal Heart	heart
5	chr2:87332000-87332200	Enhancers	Fetal Heart	heart
6	chr2:87332200-87334200	Weak transcription	Fetal Heart	heart
7	chr2:87333000-87333400	Enhancers	Fetal Lung	lung
8	chr2:87334200-87334400	Enhancers	Fetal Heart	heart
9	chr2:87371800-87372400	Enhancers	Fetal Heart	heart
10	chr2:87373000-87374000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:87373600-87374000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr2:87373800-87374600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:87374000-87374600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:87374600-87374800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:87416200-87417000	Enhancers	HUVEC	blood vessel
16	chr2:87418800-87419600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:87425400-87426000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:87431600-87431800	Enhancers	Liver	Liver
19	chr2:87431800-87432200	Flanking Active TSS	Liver	Liver

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