Variant report

Variant	nsv1003683
Chromosome Location	chr2:98860536-98881340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 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	CBX3	chr2:98879878-98880163	K562	blood:	n/a	n/a
3	CTCF	chr2:98876880-98877030	HRE	kidney:	n/a	n/a
4	CTCF	chr2:98880700-98880850	GM06990	blood:	n/a	n/a
5	CTCF	chr2:98868286-98868306	GM13976	blood:	n/a	n/a
6	CTCF	chr2:98877041-98877139	MCF-7	breast:	n/a	n/a
7	E2F4	chr2:98870037-98870205	MCF10A-Er-Src	breast:	n/a	n/a
8	EBF1	chr2:98870324-98870492	GM12878	blood:	n/a	n/a
9	EBF1	chr2:98869094-98869234	GM12878	blood:	n/a	n/a
10	FAM48A	chr2:98877963-98878065	GM12878	blood:	n/a	n/a
11	FAM48A	chr2:98879039-98879156	GM12878	blood:	n/a	n/a
12	FOS	chr2:98870128-98870198	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr2:98870030-98870250	MCF10A-Er-Src	breast:	n/a	n/a
14	KAP1	chr2:98879719-98880265	K562	blood:	n/a	n/a
15	KAP1	chr2:98863834-98864645	K562	blood:	n/a	n/a
16	MAX	chr2:98866804-98866871	NB4	blood:	n/a	n/a
17	MAZ	chr2:98860585-98860586	HepG2	liver:	n/a	n/a
18	MAZ	chr2:98862036-98862040	HepG2	liver:	n/a	n/a
19	MXI1	chr2:98865100-98865231	K562	blood:	n/a	n/a
20	NFYA	chr2:98861245-98861445	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:98876954-98877002	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr2:98874606-98874768	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr2:98877038-98877184	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr2:98868530-98868705	Gliobla	brain:	n/a	n/a
25	POU2F2	chr2:98868826-98869222	GM12878	blood:	n/a	n/a
26	RFX5	chr2:98869104-98869233	H1-hESC	embryonic stem cell:	n/a	n/a
27	SETDB1	chr2:98879664-98880385	U2OS	brain:	n/a	n/a
28	SETDB1	chr2:98863826-98864323	U2OS	brain:	n/a	n/a
29	SPI1	chr2:98868924-98869159	GM12891	blood:	n/a	chr2:98869102-98869115 chr2:98869101-98869114
30	SPI1	chr2:98868911-98869245	GM12878	blood:	n/a	chr2:98869102-98869115 chr2:98869101-98869114
31	SPI1	chr2:98869021-98869177	K562	blood:	n/a	chr2:98869102-98869115 chr2:98869101-98869114
32	SPI1	chr2:98868809-98869327	HL-60	blood:	n/a	chr2:98869102-98869115 chr2:98869101-98869114
33	SPI1	chr2:98868884-98869335	HL-60	blood:	n/a	chr2:98869102-98869115 chr2:98869101-98869114
34	ZNF143	chr2:98880000-98880074	GM12878	blood:	n/a	n/a
35	ZNF143	chr2:98879915-98880010	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	chr2:98865917-98865967	NHDF-neo	bronchial:	n/a
2	chr2:98865917-98865967	BE2_C	brain:	n/a
3	chr2:98865917-98865967	HCM	heart:	n/a
4	chr2:98865917-98865967	HEK293	kidney:	embryo
5	chr2:98866217-98866267	HL-60	blood:	n/a
6	chr2:98866217-98866267	U87	brain:	n/a
7	chr2:98866217-98866267	A549	lung:	n/a
8	chr2:98865917-98865967	HRCEpiC	kidney:	n/a
9	chr2:98865917-98865967	GM12892	blood:	n/a
10	chr2:98865917-98865967	AoSMC	blood vessel:	n/a
11	chr2:98866217-98866267	NT2-D1	testis:	n/a
12	chr2:98866217-98866267	BJ	skin:	n/a
13	chr2:98866217-98866267	NHBE	bronchial:	n/a
14	chr2:98866217-98866267	Jurkat	blood:	n/a
15	chr2:98866217-98866267	SAEC	small airway:	n/a
16	chr2:98866217-98866267	AG09309	skin:	n/a
17	chr2:98866217-98866267	HNPCEpiC	eye:	n/a
18	chr2:98866217-98866267	IMR90	lung:	fetal
19	chr2:98865917-98865967	NH-A	brain:	n/a
20	chr2:98866217-98866267	Hela-S3	cervix:	n/a
21	chr2:98866217-98866267	HEEpiC	esophagus:	n/a
22	chr2:98865917-98865967	HAEpiC	amniotic membrane:	n/a
23	chr2:98866217-98866267	GM12878	blood:	n/a
24	chr2:98866217-98866267	LNCaP	prostate:	n/a
25	chr2:98866217-98866267	AG09319	gingival:	n/a
26	chr2:98865917-98865967	AG09319	gingival:	n/a
27	chr2:98866217-98866267	ProgFib	skin:	n/a
28	chr2:98865917-98865967	Hela-S3	cervix:	n/a
29	chr2:98865917-98865967	IMR90	lung:	fetal
30	chr2:98866217-98866267	MCF-7	breast:	n/a
31	chr2:98865917-98865967	BJ	skin:	n/a
32	chr2:98866217-98866267	SKMC	muscle:	n/a
33	chr2:98865917-98865967	HL-60	blood:	n/a
34	chr2:98866217-98866267	AG04450	lung:	fetal
35	chr2:98866217-98866267	MCF10A-Er-Src	breast:	n/a
36	chr2:98865917-98865967	HRPEpiC	eye:	n/a
37	chr2:98866217-98866267	BE2_C	brain:	n/a
38	chr2:98866217-98866267	HIPEpiC	eye:	n/a
39	chr2:98865917-98865967	HUVEC	blood vessel:	n/a
40	chr2:98866217-98866267	HRE	kidney:	n/a
41	chr2:98866217-98866267	RPTEC	kidney:	n/a
42	chr2:98866217-98866267	NH-A	brain:	n/a
43	chr2:98866217-98866267	GM06990	blood:	n/a
44	chr2:98866217-98866267	NB4	blood:	n/a
45	chr2:98866217-98866267	HEK293	kidney:	embryo
46	chr2:98866217-98866267	HCPEpiC	choroid plexus:	n/a
47	chr2:98865917-98865967	AG04449	skin:	fetal
48	chr2:98865917-98865967	CMK	blood:	n/a
49	chr2:98865917-98865967	GM12878	blood:	n/a
50	chr2:98866217-98866267	GM12892	blood:	n/a

(count:3 , 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	chr2:98868004..98870745-chr2:98873730..98876518,2	K562	blood:

No data

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

Extended variants
information (count: 447 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376408123	chr2:98860559-98860560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77733373	chr2:98860562-98860563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557995157	chr2:98860573-98860574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4575772	chr2:98860600-98860601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149149470	chr2:98860629-98860630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543563117	chr2:98860712-98860713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557130170	chr2:98860717-98860718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374869276	chr2:98861327-98861328	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs76672949	chr2:98861372-98861373	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs572742189	chr2:98861399-98861400	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs548498793	chr2:98864907-98864908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs368118487	chr2:98864944-98864945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs527772468	chr2:98864955-98864956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs547515234	chr2:98864990-98864991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs570500667	chr2:98865065-98865066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs539464911	chr2:98865107-98865108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs370574871	chr2:98865131-98865132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs569060924	chr2:98865181-98865182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs185923959	chr2:98865190-98865191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs62156722	chr2:98865196-98865197	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs574622653	chr2:98865216-98865217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374568503	chr2:98865232-98865233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533849839	chr2:98865240-98865241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553944143	chr2:98865249-98865250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190691409	chr2:98865257-98865258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530082145	chr2:98865286-98865287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539845951	chr2:98865293-98865294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367600105	chr2:98865299-98865300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182847888	chr2:98865304-98865305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548841173	chr2:98865309-98865310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76556208	chr2:98865312-98865313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373504011	chr2:98865313-98865314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77401580	chr2:98865316-98865317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75873853	chr2:98865320-98865321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200183139	chr2:98865327-98865328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78889552	chr2:98865328-98865329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77481767	chr2:98865330-98865331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368684828	chr2:98865331-98865332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542778639	chr2:98865332-98865333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79284063	chr2:98865334-98865335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397985266	chr2:98865335-98865336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200306035	chr2:98865339-98865340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200238475	chr2:98865340-98865341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201469181	chr2:98865342-98865343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs67307713	chr2:98865343-98865344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199655767	chr2:98865344-98865345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs66488415	chr2:98865345-98865346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201467379	chr2:98865346-98865347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201227686	chr2:98865348-98865349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397809293	chr2:98865349-98865350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98860200-98860800	Enhancers	Liver	Liver
2	chr2:98864800-98865200	ZNF genes & repeats	Psoas Muscle	Psoas
3	chr2:98865000-98865200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:98865200-98870000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:98867600-98868200	Enhancers	Brain Germinal Matrix	brain
6	chr2:98868200-98868800	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr2:98868200-98870200	Enhancers	Fetal Brain Female	brain
8	chr2:98868400-98869400	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:98868400-98870400	Enhancers	Fetal Brain Male	brain
10	chr2:98868600-98869200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:98868600-98869400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:98868600-98869400	Enhancers	GM12878-XiMat	blood
13	chr2:98868800-98869400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr2:98868800-98870400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:98868800-98870600	Enhancers	Brain Germinal Matrix	brain
16	chr2:98869000-98870800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:98869800-98870400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:98869800-98870400	Enhancers	Brain Angular Gyrus	brain
19	chr2:98869800-98870400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:98869800-98870600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:98869800-98871000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:98869800-98871400	Enhancers	Ovary	ovary
23	chr2:98870000-98870400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:98870000-98870600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:98870000-98870800	Enhancers	Esophagus	oesophagus
26	chr2:98870200-98871200	Weak transcription	Fetal Brain Female	brain
27	chr2:98871000-98872000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:98871200-98871400	Enhancers	Fetal Brain Female	brain
29	chr2:98872000-98872200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:98872000-98872200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:98875400-98878000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:98878000-98880400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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