Variant report

Variant	esv2760564
Chromosome Location	chr2:98858308-98881352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:244)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 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	chr2:98877041-98877139	MCF-7	breast:	n/a	n/a
4	CTCF	chr2:98868286-98868306	GM13976	blood:	n/a	n/a
5	CTCF	chr2:98880700-98880850	GM06990	blood:	n/a	n/a
6	CTCF	chr2:98876880-98877030	HRE	kidney:	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	chr2:98879039-98879156	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	MAFF	chr2:98859107-98859421	HepG2	liver:	n/a	n/a
17	MAFK	chr2:98859112-98859465	HepG2	liver:	n/a	chr2:98859276-98859291
18	MAFK	chr2:98859128-98859417	IMR90	lung:	n/a	chr2:98859276-98859291
19	MAFK	chr2:98859105-98859392	HepG2	liver:	n/a	chr2:98859276-98859291
20	MAX	chr2:98866804-98866871	NB4	blood:	n/a	n/a
21	MAZ	chr2:98862036-98862040	HepG2	liver:	n/a	n/a
22	MAZ	chr2:98860585-98860586	HepG2	liver:	n/a	n/a
23	MXI1	chr2:98865100-98865231	K562	blood:	n/a	n/a
24	MYC	chr2:98859561-98859713	H1-hESC	embryonic stem cell:	n/a	n/a
25	NFYA	chr2:98861245-98861445	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:98868530-98868705	Gliobla	brain:	n/a	n/a
27	POLR2A	chr2:98877038-98877184	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr2:98874606-98874768	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr2:98876954-98877002	MCF10A-Er-Src	breast:	n/a	n/a
30	POU2F2	chr2:98868826-98869222	GM12878	blood:	n/a	n/a
31	REST	chr2:98858089-98859033	H1-neurons	neurons:	n/a	n/a
32	RFX5	chr2:98869104-98869233	H1-hESC	embryonic stem cell:	n/a	n/a
33	SETDB1	chr2:98879664-98880385	U2OS	brain:	n/a	n/a
34	SETDB1	chr2:98863826-98864323	U2OS	brain:	n/a	n/a
35	SPI1	chr2:98868884-98869335	HL-60	blood:	n/a	chr2:98869102-98869115 chr2:98869101-98869114
36	SPI1	chr2:98869021-98869177	K562	blood:	n/a	chr2:98869102-98869115 chr2:98869101-98869114
37	SPI1	chr2:98868924-98869159	GM12891	blood:	n/a	chr2:98869102-98869115 chr2:98869101-98869114
38	SPI1	chr2:98868911-98869245	GM12878	blood:	n/a	chr2:98869102-98869115 chr2:98869101-98869114
39	SPI1	chr2:98868809-98869327	HL-60	blood:	n/a	chr2:98869102-98869115 chr2:98869101-98869114
40	ZNF143	chr2:98879915-98880010	K562	blood:	n/a	n/a
41	ZNF143	chr2:98880000-98880074	GM12878	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:98858595-98858645	ECC-1	luminal epithelium:	n/a
2	chr2:98858595-98858645	SK-N-MC	brain:	n/a
3	chr2:98858595-98858645	MCF10A-Er-Src	breast:	n/a
4	chr2:98866217-98866267	GM12878	blood:	n/a
5	chr2:98858571-98858621	SK-N-SH_RA	brain:	n/a
6	chr2:98858595-98858645	NHDF-neo	bronchial:	n/a
7	chr2:98865917-98865967	NH-A	brain:	n/a
8	chr2:98866217-98866267	HAEpiC	amniotic membrane:	n/a
9	chr2:98858571-98858621	HNPCEpiC	eye:	n/a
10	chr2:98858571-98858621	AG04450	lung:	fetal
11	chr2:98865917-98865967	GM06990	blood:	n/a
12	chr2:98865917-98865967	U87	brain:	n/a
13	chr2:98866217-98866267	Caco-2	colon:	n/a
14	chr2:98865917-98865967	SAEC	small airway:	n/a
15	chr2:98865917-98865967	BJ	skin:	n/a
16	chr2:98858595-98858645	SK-N-SH	brain:	n/a
17	chr2:98865917-98865967	AoSMC	blood vessel:	n/a
18	chr2:98858595-98858645	IMR90	lung:	fetal
19	chr2:98858595-98858645	AG10803	skin:	n/a
20	chr2:98858595-98858645	HCT-116	colon:	n/a
21	chr2:98858571-98858621	A549	lung:	n/a
22	chr2:98865917-98865967	IMR90	lung:	fetal
23	chr2:98865917-98865967	PANC-1	pancreas:	n/a
24	chr2:98858571-98858621	GM12878	blood:	n/a
25	chr2:98858571-98858621	HAEpiC	amniotic membrane:	n/a
26	chr2:98865917-98865967	ECC-1	luminal epithelium:	n/a
27	chr2:98865917-98865967	BE2_C	brain:	n/a
28	chr2:98858571-98858621	AG04449	skin:	fetal
29	chr2:98858571-98858621	HepG2	liver:	n/a
30	chr2:98865917-98865967	HRE	kidney:	n/a
31	chr2:98858595-98858645	SK-N-SH_RA	brain:	n/a
32	chr2:98865917-98865967	ProgFib	skin:	n/a
33	chr2:98866217-98866267	HepG2	liver:	n/a
34	chr2:98865917-98865967	HMEC	breast:	n/a
35	chr2:98866217-98866267	HIPEpiC	eye:	n/a
36	chr2:98865917-98865967	Hela-S3	cervix:	n/a
37	chr2:98858595-98858645	LNCaP	prostate:	n/a
38	chr2:98866217-98866267	HPAEpiC	pulmonary alveolar:	n/a
39	chr2:98866217-98866267	PFSK-1	brain:	n/a
40	chr2:98858571-98858621	HEK293	kidney:	embryo
41	chr2:98858595-98858645	A549	lung:	n/a
42	chr2:98866217-98866267	GM12892	blood:	n/a
43	chr2:98866217-98866267	SK-N-MC	brain:	n/a
44	chr2:98858595-98858645	H1-hESC	embryonic stem cell:	embryo
45	chr2:98858571-98858621	HCM	heart:	n/a
46	chr2:98858571-98858621	BE2_C	brain:	n/a
47	chr2:98858571-98858621	K562	blood:	n/a
48	chr2:98866217-98866267	U87	brain:	n/a
49	chr2:98866217-98866267	H1-hESC	embryonic stem cell:	embryo
50	chr2:98858595-98858645	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:98868004..98870745-chr2:98873730..98876518,2	K562	blood:
2	chr2:98611658..98614514-chr2:98866353..98868181,2	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: 505 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12470615	chr2:98858308-98858309	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185402252	chr2:98858337-98858338	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs562276068	chr2:98858387-98858388	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs527848375	chr2:98858441-98858442	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs190264907	chr2:98858451-98858452	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs180826950	chr2:98858472-98858473	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs185769309	chr2:98858478-98858479	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs191070282	chr2:98858480-98858481	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs569699870	chr2:98858511-98858512	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs550929819	chr2:98858595-98858596	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs575832926	chr2:98858662-98858663	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs371166548	chr2:98858744-98858745	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs540611058	chr2:98858771-98858772	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs568279728	chr2:98858784-98858785	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs116533062	chr2:98858786-98858787	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs183711427	chr2:98858860-98858861	Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs148410928	chr2:98858873-98858874	Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs539532705	chr2:98858898-98858899	Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs542871346	chr2:98858946-98858947	Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs189150781	chr2:98858966-98858967	Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs576089019	chr2:98858993-98858994	Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs190560531	chr2:98858994-98858995	Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs562364528	chr2:98859020-98859021	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs75891546	chr2:98859022-98859023	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs62156709	chr2:98859064-98859065	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs141786342	chr2:98859074-98859075	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs564329850	chr2:98859085-98859086	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs62156710	chr2:98859102-98859103	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539898681	chr2:98859106-98859107	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs183165323	chr2:98859148-98859149	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs530438232	chr2:98859196-98859197	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs563463336	chr2:98859218-98859219	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs529253282	chr2:98859220-98859221	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs150591023	chr2:98859265-98859266	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs568298883	chr2:98859275-98859276	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs62156711	chr2:98859277-98859278	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs547756235	chr2:98859307-98859308	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs570647772	chr2:98859336-98859337	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs548872516	chr2:98859362-98859363	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs78139151	chr2:98859408-98859409	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs556269376	chr2:98859424-98859425	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs187132112	chr2:98859509-98859510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35722165	chr2:98859572-98859573	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs141505049	chr2:98859631-98859632	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs555062204	chr2:98859643-98859644	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs143397599	chr2:98859666-98859667	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs11124121	chr2:98859668-98859669	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs558058215	chr2:98859705-98859706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs577786813	chr2:98859707-98859708	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs146545680	chr2:98860201-98860202	Enhancers	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98856800-98859200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:98857400-98858400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:98857400-98859400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:98857400-98859400	Enhancers	Brain Germinal Matrix	brain
5	chr2:98857400-98859600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:98857600-98858600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:98857600-98859200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:98857800-98858800	Enhancers	Fetal Brain Male	brain
9	chr2:98858000-98858400	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr2:98858000-98858400	Flanking Active TSS	Brain Substantia Nigra	brain
11	chr2:98858000-98858800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:98858200-98858400	Enhancers	Brain Angular Gyrus	brain
13	chr2:98858200-98858400	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr2:98858200-98858400	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr2:98858200-98858400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:98858200-98858800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr2:98858400-98858800	Active TSS	Brain Anterior Caudate	brain
18	chr2:98858400-98858800	Active TSS	Brain Cingulate Gyrus	brain
19	chr2:98858400-98858800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:98858400-98859000	Active TSS	Brain Angular Gyrus	brain
21	chr2:98858400-98859000	Active TSS	Brain Hippocampus Middle	brain
22	chr2:98858400-98859000	Active TSS	Brain Substantia Nigra	brain
23	chr2:98858800-98859200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:98858800-98859200	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr2:98858800-98859200	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr2:98858800-98859200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr2:98858800-98859200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:98859000-98859200	Flanking Active TSS	Brain Angular Gyrus	brain
29	chr2:98859000-98859200	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr2:98859000-98859200	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr2:98859200-98859400	Enhancers	Brain Angular Gyrus	brain
32	chr2:98859200-98859400	Enhancers	Brain Cingulate Gyrus	brain
33	chr2:98859200-98859400	Enhancers	Brain Hippocampus Middle	brain
34	chr2:98859200-98859400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr2:98859200-98859400	Enhancers	Brain Substantia Nigra	brain
36	chr2:98860200-98860800	Enhancers	Liver	Liver
37	chr2:98864800-98865200	ZNF genes & repeats	Psoas Muscle	Psoas
38	chr2:98865000-98865200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:98865200-98870000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:98867600-98868200	Enhancers	Brain Germinal Matrix	brain
41	chr2:98868200-98868800	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr2:98868200-98870200	Enhancers	Fetal Brain Female	brain
43	chr2:98868400-98869400	Enhancers	Primary B cells from peripheral blood	blood
44	chr2:98868400-98870400	Enhancers	Fetal Brain Male	brain
45	chr2:98868600-98869200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr2:98868600-98869400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr2:98868600-98869400	Enhancers	GM12878-XiMat	blood
48	chr2:98868800-98869400	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr2:98868800-98870400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:98868800-98870600	Enhancers	Brain Germinal Matrix	brain

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