Variant report

Variant	nsv999884
Chromosome Location	chr2:98861412-98881340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 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	chr2:98880700-98880850	GM06990	blood:	n/a	n/a
4	CTCF	chr2:98868286-98868306	GM13976	blood:	n/a	n/a
5	CTCF	chr2:98876880-98877030	HRE	kidney:	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	chr2:98869094-98869234	GM12878	blood:	n/a	n/a
9	EBF1	chr2:98870324-98870492	GM12878	blood:	n/a	n/a
10	FAM48A	chr2:98879039-98879156	GM12878	blood:	n/a	n/a
11	FAM48A	chr2:98877963-98878065	GM12878	blood:	n/a	n/a
12	FOS	chr2:98870030-98870250	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr2:98870128-98870198	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	chr2:98862036-98862040	HepG2	liver:	n/a	n/a
18	MXI1	chr2:98865100-98865231	K562	blood:	n/a	n/a
19	NFYA	chr2:98861245-98861445	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:98877038-98877184	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr2:98874606-98874768	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr2:98876954-98877002	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr2:98868530-98868705	Gliobla	brain:	n/a	n/a
24	POU2F2	chr2:98868826-98869222	GM12878	blood:	n/a	n/a
25	RFX5	chr2:98869104-98869233	H1-hESC	embryonic stem cell:	n/a	n/a
26	SETDB1	chr2:98879664-98880385	U2OS	brain:	n/a	n/a
27	SETDB1	chr2:98863826-98864323	U2OS	brain:	n/a	n/a
28	SPI1	chr2:98868924-98869159	GM12891	blood:	n/a	chr2:98869102-98869115 chr2:98869101-98869114
29	SPI1	chr2:98868911-98869245	GM12878	blood:	n/a	chr2:98869102-98869115 chr2:98869101-98869114
30	SPI1	chr2:98868884-98869335	HL-60	blood:	n/a	chr2:98869102-98869115 chr2:98869101-98869114
31	SPI1	chr2:98868809-98869327	HL-60	blood:	n/a	chr2:98869102-98869115 chr2:98869101-98869114
32	SPI1	chr2:98869021-98869177	K562	blood:	n/a	chr2:98869102-98869115 chr2:98869101-98869114
33	ZNF143	chr2:98880000-98880074	GM12878	blood:	n/a	n/a
34	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	ProgFib	skin:	n/a
2	chr2:98865917-98865967	GM06990	blood:	n/a
3	chr2:98865917-98865967	BJ	skin:	n/a
4	chr2:98865917-98865967	GM19239	blood:	n/a
5	chr2:98865917-98865967	HRCEpiC	kidney:	n/a
6	chr2:98865917-98865967	T-47D	breast:	n/a
7	chr2:98866217-98866267	HMEC	breast:	n/a
8	chr2:98865917-98865967	HMEC	breast:	n/a
9	chr2:98865917-98865967	HCPEpiC	choroid plexus:	n/a
10	chr2:98866217-98866267	BJ	skin:	n/a
11	chr2:98866217-98866267	PANC-1	pancreas:	n/a
12	chr2:98865917-98865967	HIPEpiC	eye:	n/a
13	chr2:98866217-98866267	HRE	kidney:	n/a
14	chr2:98865917-98865967	HCT-116	colon:	n/a
15	chr2:98866217-98866267	CMK	blood:	n/a
16	chr2:98865917-98865967	MCF-7	breast:	n/a
17	chr2:98865917-98865967	U87	brain:	n/a
18	chr2:98866217-98866267	K562	blood:	n/a
19	chr2:98866217-98866267	LNCaP	prostate:	n/a
20	chr2:98866217-98866267	T-47D	breast:	n/a
21	chr2:98866217-98866267	MCF-7	breast:	n/a
22	chr2:98865917-98865967	AG04450	lung:	fetal
23	chr2:98866217-98866267	HEK293	kidney:	embryo
24	chr2:98866217-98866267	HCPEpiC	choroid plexus:	n/a
25	chr2:98865917-98865967	CMK	blood:	n/a
26	chr2:98865917-98865967	K562	blood:	n/a
27	chr2:98865917-98865967	RPTEC	kidney:	n/a
28	chr2:98866217-98866267	AG09309	skin:	n/a
29	chr2:98866217-98866267	Hepatocyte	liver:	n/a
30	chr2:98866217-98866267	ovcar-3	ovarian:	n/a
31	chr2:98866217-98866267	NT2-D1	testis:	n/a
32	chr2:98866217-98866267	HUVEC	blood vessel:	n/a
33	chr2:98866217-98866267	GM12892	blood:	n/a
34	chr2:98865917-98865967	HEK293	kidney:	embryo
35	chr2:98865917-98865967	AG04449	skin:	fetal
36	chr2:98865917-98865967	HEEpiC	esophagus:	n/a
37	chr2:98866217-98866267	HCT-116	colon:	n/a
38	chr2:98866217-98866267	SK-N-MC	brain:	n/a
39	chr2:98865917-98865967	SK-N-MC	brain:	n/a
40	chr2:98866217-98866267	HEEpiC	esophagus:	n/a
41	chr2:98866217-98866267	HRCEpiC	kidney:	n/a
42	chr2:98865917-98865967	HUVEC	blood vessel:	n/a
43	chr2:98866217-98866267	ProgFib	skin:	n/a
44	chr2:98865917-98865967	NB4	blood:	n/a
45	chr2:98866217-98866267	PFSK-1	brain:	n/a
46	chr2:98866217-98866267	NHBE	bronchial:	n/a
47	chr2:98866217-98866267	PrEC	prostate:	n/a
48	chr2:98866217-98866267	HIPEpiC	eye:	n/a
49	chr2:98865917-98865967	HPAEpiC	pulmonary alveolar:	n/a
50	chr2:98866217-98866267	HCF	heart:	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: 437 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:437 , 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	rs548498793	chr2:98864907-98864908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs368118487	chr2:98864944-98864945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs527772468	chr2:98864955-98864956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs547515234	chr2:98864990-98864991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs570500667	chr2:98865065-98865066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs539464911	chr2:98865107-98865108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs370574871	chr2:98865131-98865132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs569060924	chr2:98865181-98865182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs185923959	chr2:98865190-98865191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs62156722	chr2:98865196-98865197	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574622653	chr2:98865216-98865217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374568503	chr2:98865232-98865233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533849839	chr2:98865240-98865241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553944143	chr2:98865249-98865250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190691409	chr2:98865257-98865258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530082145	chr2:98865286-98865287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539845951	chr2:98865293-98865294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367600105	chr2:98865299-98865300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182847888	chr2:98865304-98865305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548841173	chr2:98865309-98865310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76556208	chr2:98865312-98865313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373504011	chr2:98865313-98865314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77401580	chr2:98865316-98865317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75873853	chr2:98865320-98865321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200183139	chr2:98865327-98865328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78889552	chr2:98865328-98865329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77481767	chr2:98865330-98865331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368684828	chr2:98865331-98865332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542778639	chr2:98865332-98865333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79284063	chr2:98865334-98865335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397985266	chr2:98865335-98865336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200306035	chr2:98865339-98865340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200238475	chr2:98865340-98865341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201469181	chr2:98865342-98865343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs67307713	chr2:98865343-98865344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199655767	chr2:98865344-98865345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs66488415	chr2:98865345-98865346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201467379	chr2:98865346-98865347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201227686	chr2:98865348-98865349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397809293	chr2:98865349-98865350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74812533	chr2:98865367-98865368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563148871	chr2:98865370-98865371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79400634	chr2:98865376-98865377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145705950	chr2:98865377-98865378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76948961	chr2:98865380-98865381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566836033	chr2:98865468-98865469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139668292	chr2:98865489-98865490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542547536	chr2:98865534-98865535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562136821	chr2:98865568-98865569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149777792	chr2:98865569-98865570	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:31 , 50 per page) page: 1

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

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