Variant report

Variant	nsv1014147
Chromosome Location	chr2:98855007-98878044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:366)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:98877882-98877971	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr2:98877041-98877139	MCF-7	breast:	n/a	n/a
3	CTCF	chr2:98868286-98868306	GM13976	blood:	n/a	n/a
4	CTCF	chr2:98876880-98877030	HRE	kidney:	n/a	n/a
5	E2F4	chr2:98870037-98870205	MCF10A-Er-Src	breast:	n/a	n/a
6	EBF1	chr2:98870324-98870492	GM12878	blood:	n/a	n/a
7	EBF1	chr2:98869094-98869234	GM12878	blood:	n/a	n/a
8	ELK1	chr2:98855051-98855069	GM12878	blood:	n/a	n/a
9	FAM48A	chr2:98877963-98878065	GM12878	blood:	n/a	n/a
10	FOS	chr2:98870128-98870198	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr2:98870030-98870250	MCF10A-Er-Src	breast:	n/a	n/a
12	GATA3	chr2:98857351-98857893	T-47D	breast:	n/a	n/a
13	KAP1	chr2:98863834-98864645	K562	blood:	n/a	n/a
14	MAFF	chr2:98859107-98859421	HepG2	liver:	n/a	n/a
15	MAFK	chr2:98859105-98859392	HepG2	liver:	n/a	chr2:98859276-98859291
16	MAFK	chr2:98859128-98859417	IMR90	lung:	n/a	chr2:98859276-98859291
17	MAFK	chr2:98859112-98859465	HepG2	liver:	n/a	chr2:98859276-98859291
18	MAX	chr2:98866804-98866871	NB4	blood:	n/a	n/a
19	MAZ	chr2:98857443-98857558	HepG2	liver:	n/a	n/a
20	MAZ	chr2:98862036-98862040	HepG2	liver:	n/a	n/a
21	MAZ	chr2:98860585-98860586	HepG2	liver:	n/a	n/a
22	MXI1	chr2:98865100-98865231	K562	blood:	n/a	n/a
23	MYC	chr2:98859561-98859713	H1-hESC	embryonic stem cell:	n/a	n/a
24	NFYA	chr2:98861245-98861445	GM12878	blood:	n/a	n/a
25	POLR2A	chr2:98874606-98874768	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr2:98868530-98868705	Gliobla	brain:	n/a	n/a
27	POLR2A	chr2:98876954-98877002	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr2:98877038-98877184	MCF10A-Er-Src	breast:	n/a	n/a
29	POU2F2	chr2:98868826-98869222	GM12878	blood:	n/a	n/a
30	REST	chr2:98858089-98859033	H1-neurons	neurons:	n/a	n/a
31	RFX5	chr2:98869104-98869233	H1-hESC	embryonic stem cell:	n/a	n/a
32	SETDB1	chr2:98863826-98864323	U2OS	brain:	n/a	n/a
33	SPI1	chr2:98869021-98869177	K562	blood:	n/a	chr2:98869102-98869115 chr2:98869101-98869114
34	SPI1	chr2:98868809-98869327	HL-60	blood:	n/a	chr2:98869102-98869115 chr2:98869101-98869114
35	SPI1	chr2:98868924-98869159	GM12891	blood:	n/a	chr2:98869102-98869115 chr2:98869101-98869114
36	SPI1	chr2:98868884-98869335	HL-60	blood:	n/a	chr2:98869102-98869115 chr2:98869101-98869114
37	SPI1	chr2:98868911-98869245	GM12878	blood:	n/a	chr2:98869102-98869115 chr2:98869101-98869114

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:98866217-98866267	AG09309	skin:	n/a
2	chr2:98858571-98858621	MCF10A-Er-Src	breast:	n/a
3	chr2:98858136-98858186	HUVEC	blood vessel:	n/a
4	chr2:98865917-98865967	Caco-2	colon:	n/a
5	chr2:98858595-98858645	AG10803	skin:	n/a
6	chr2:98858595-98858645	ProgFib	skin:	n/a
7	chr2:98858136-98858186	GM12892	blood:	n/a
8	chr2:98858136-98858186	BJ	skin:	n/a
9	chr2:98858011-98858061	HCPEpiC	choroid plexus:	n/a
10	chr2:98858571-98858621	PrEC	prostate:	n/a
11	chr2:98858136-98858186	HMEC	breast:	n/a
12	chr2:98865917-98865967	MCF10A-Er-Src	breast:	n/a
13	chr2:98858595-98858645	NT2-D1	testis:	n/a
14	chr2:98858595-98858645	HIPEpiC	eye:	n/a
15	chr2:98858571-98858621	SKMC	muscle:	n/a
16	chr2:98866217-98866267	PFSK-1	brain:	n/a
17	chr2:98866217-98866267	GM19239	blood:	n/a
18	chr2:98858595-98858645	Hela-S3	cervix:	n/a
19	chr2:98858136-98858186	RPTEC	kidney:	n/a
20	chr2:98866217-98866267	HCM	heart:	n/a
21	chr2:98858571-98858621	SK-N-MC	brain:	n/a
22	chr2:98858571-98858621	NT2-D1	testis:	n/a
23	chr2:98858011-98858061	HL-60	blood:	n/a
24	chr2:98865917-98865967	HRPEpiC	eye:	n/a
25	chr2:98858136-98858186	K562	blood:	n/a
26	chr2:98858571-98858621	HCM	heart:	n/a
27	chr2:98865917-98865967	AG09319	gingival:	n/a
28	chr2:98858571-98858621	HMEC	breast:	n/a
29	chr2:98866217-98866267	Caco-2	colon:	n/a
30	chr2:98858595-98858645	HRCEpiC	kidney:	n/a
31	chr2:98858136-98858186	IMR90	lung:	fetal
32	chr2:98858595-98858645	BJ	skin:	n/a
33	chr2:98865917-98865967	IMR90	lung:	fetal
34	chr2:98858595-98858645	NHDF-neo	bronchial:	n/a
35	chr2:98866217-98866267	SK-N-MC	brain:	n/a
36	chr2:98858011-98858061	A549	lung:	n/a
37	chr2:98858571-98858621	GM19239	blood:	n/a
38	chr2:98858011-98858061	CMK	blood:	n/a
39	chr2:98858011-98858061	HMEC	breast:	n/a
40	chr2:98866217-98866267	NB4	blood:	n/a
41	chr2:98865917-98865967	SKMC	muscle:	n/a
42	chr2:98858011-98858061	IMR90	lung:	fetal
43	chr2:98858136-98858186	T-47D	breast:	n/a
44	chr2:98858571-98858621	SK-N-SH	brain:	n/a
45	chr2:98858011-98858061	AoSMC	blood vessel:	n/a
46	chr2:98858571-98858621	ProgFib	skin:	n/a
47	chr2:98858571-98858621	HNPCEpiC	eye:	n/a
48	chr2:98858136-98858186	SAEC	small airway:	n/a
49	chr2:98858011-98858061	HAEpiC	amniotic membrane:	n/a
50	chr2:98865917-98865967	HepG2	liver:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:98611658..98614514-chr2:98866353..98868181,2	K562	blood:
2	chr2:98868004..98870745-chr2:98873730..98876518,2	K562	blood:
3	chr2:98849964..98853776-chr2:98854233..98857105,4	MCF-7	breast:
4	chr2:98868004..98870745-chr2:98873730..98876518,2	K562	blood:

No data

Variant related genes	Relation type
VWA3B	TF binding region
VWA3B	CpG island
ENSG00000075568	chromatin interactions
ENSG00000168658	chromatin interactions

Extended variants
information (count: 562 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:562 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4608582	chr2:98855007-98855008	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs149966875	chr2:98855008-98855009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567576250	chr2:98855020-98855021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536544277	chr2:98855051-98855052	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553659964	chr2:98855118-98855119	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs75019095	chr2:98855131-98855132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368616495	chr2:98855196-98855197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs184061515	chr2:98855250-98855251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372548751	chr2:98855257-98855258	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144990224	chr2:98855283-98855284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575815910	chr2:98855314-98855315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187287435	chr2:98855347-98855348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561263024	chr2:98855433-98855434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574928377	chr2:98855441-98855442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542542511	chr2:98855451-98855452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559628862	chr2:98855463-98855464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs191377463	chr2:98855478-98855479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs551570507	chr2:98855484-98855485	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs35541119	chr2:98855491-98855492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs4374424	chr2:98855497-98855498	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs148674526	chr2:98855518-98855519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550311057	chr2:98855554-98855555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs566904921	chr2:98855576-98855577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184525264	chr2:98855577-98855578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546947436	chr2:98855636-98855637	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs142303412	chr2:98855644-98855645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs146815582	chr2:98855674-98855675	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559196574	chr2:98855791-98855792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs530525317	chr2:98855799-98855800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs36228737	chr2:98855803-98855804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201646584	chr2:98855804-98855805	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555136306	chr2:98855805-98855806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs397689287	chr2:98855822-98855823	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs140479030	chr2:98855866-98855867	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540646030	chr2:98855876-98855877	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs559351475	chr2:98855877-98855878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs189457571	chr2:98855902-98855903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs34467331	chr2:98855920-98855921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs544830921	chr2:98855963-98855964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs371681977	chr2:98855979-98855980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539162509	chr2:98855992-98855993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs564737288	chr2:98855998-98855999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs60351860	chr2:98856003-98856004	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs530660744	chr2:98856004-98856005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs4614979	chr2:98856008-98856009	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs560669051	chr2:98856041-98856042	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs534998114	chr2:98856087-98856088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529621758	chr2:98856104-98856105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546583937	chr2:98856150-98856151	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs567004709	chr2:98856151-98856152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

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	17483303	CNVD
Medulloblastoma	20607354	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
Ovarian cancer	21781307	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22522925	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98851000-98857600	Weak transcription	Brain Substantia Nigra	brain
2	chr2:98851400-98856800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:98851600-98856800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:98854200-98857400	Weak transcription	Placenta	Placenta
5	chr2:98854400-98857400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:98855600-98857800	Weak transcription	Fetal Brain Male	brain
7	chr2:98856800-98858000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:98856800-98859200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:98857400-98857800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr2:98857400-98857800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr2:98857400-98857800	Enhancers	Placenta	Placenta
12	chr2:98857400-98858000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:98857400-98858000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:98857400-98858000	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:98857400-98858200	Enhancers	Brain Anterior Caudate	brain
16	chr2:98857400-98858200	Enhancers	Brain Hippocampus Middle	brain
17	chr2:98857400-98858400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:98857400-98859400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:98857400-98859400	Enhancers	Brain Germinal Matrix	brain
20	chr2:98857400-98859600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:98857600-98858000	Enhancers	Brain Angular Gyrus	brain
22	chr2:98857600-98858000	Enhancers	Brain Substantia Nigra	brain
23	chr2:98857600-98858600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:98857600-98859200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:98857800-98858200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr2:98857800-98858800	Enhancers	Fetal Brain Male	brain
27	chr2:98858000-98858200	Flanking Active TSS	Brain Angular Gyrus	brain
28	chr2:98858000-98858200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:98858000-98858400	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr2:98858000-98858400	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr2:98858000-98858800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:98858200-98858400	Enhancers	Brain Angular Gyrus	brain
33	chr2:98858200-98858400	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr2:98858200-98858400	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr2:98858200-98858400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:98858200-98858800	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr2:98858400-98858800	Active TSS	Brain Anterior Caudate	brain
38	chr2:98858400-98858800	Active TSS	Brain Cingulate Gyrus	brain
39	chr2:98858400-98858800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:98858400-98859000	Active TSS	Brain Angular Gyrus	brain
41	chr2:98858400-98859000	Active TSS	Brain Hippocampus Middle	brain
42	chr2:98858400-98859000	Active TSS	Brain Substantia Nigra	brain
43	chr2:98858800-98859200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:98858800-98859200	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr2:98858800-98859200	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr2:98858800-98859200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr2:98858800-98859200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:98859000-98859200	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr2:98859000-98859200	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr2:98859000-98859200	Flanking Active TSS	Brain Substantia Nigra	brain

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