Variant report

Variant	esv1793611
Chromosome Location	chr2:100693049-100725966
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:137)
CpG islands
(count:855)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:137 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:100721784-100721890	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr2:100718925-100719646	GM12878	blood:	n/a	n/a
3	BATF	chr2:100718898-100719582	GM12878	blood:	n/a	n/a
4	BCL11A	chr2:100718979-100719530	GM12878	blood:	n/a	n/a
5	BCL11A	chr2:100718827-100719589	GM12878	blood:	n/a	n/a
6	BHLHE40	chr2:100710140-100710442	HepG2	liver:	n/a	chr2:100710250-100710263
7	CEBPB	chr2:100712214-100712246	A549	lung:	n/a	chr2:100712226-100712235 chr2:100712225-100712236 chr2:100712224-100712237
8	CEBPB	chr2:100696050-100696105	HepG2	liver:	n/a	chr2:100696077-100696088 chr2:100696076-100696089
9	CEBPB	chr2:100712118-100712355	HepG2	liver:	n/a	chr2:100712226-100712235 chr2:100712225-100712236 chr2:100712224-100712237
10	CEBPB	chr2:100712097-100712304	IMR90	lung:	n/a	chr2:100712226-100712235 chr2:100712225-100712236 chr2:100712224-100712237
11	CEBPB	chr2:100699028-100699222	IMR90	lung:	n/a	chr2:100699083-100699096 chr2:100699083-100699096
12	CHD1	chr2:100722865-100723049	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr2:100722887-100723124	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr2:100722914-100723365	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTBP2	chr2:100721806-100722653	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr2:100698844-100698851	LNCaP	prostate:	n/a	n/a
17	CTCF	chr2:100712384-100712561	K562	blood:	n/a	n/a
18	CTCF	chr2:100707566-100707573	GM10266	blood:	n/a	n/a
19	CTCF	chr2:100710900-100711050	A549	lung:	n/a	n/a
20	CTCF	chr2:100693488-100693506	Lung_OC	lung:	n/a	n/a
21	CTCF	chr2:100694900-100695050	MCF-7	breast:	n/a	n/a
22	CTCF	chr2:100712396-100712531	Medullo	brain:	n/a	n/a
23	CTCF	chr2:100712426-100712476	GM10248	blood:	n/a	n/a
24	CTCF	chr2:100721900-100722050	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr2:100716678-100716726	GM20000	blood:	n/a	n/a
26	CTCF	chr2:100712401-100712538	GM13977	blood:	n/a	n/a
27	CTCF	chr2:100712379-100712633	A549	lung:	n/a	n/a
28	CTCF	chr2:100712500-100712650	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr2:100698783-100698836	LNCaP	prostate:	n/a	n/a
30	CTCF	chr2:100712397-100712535	GM10266	blood:	n/a	n/a
31	CTCF	chr2:100712415-100712532	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chr2:100717199-100717242	Pancreas_OC	pancreas:	n/a	n/a
33	CTCF	chr2:100697475-100697557	GM10248	blood:	n/a	n/a
34	CTCF	chr2:100707581-100707599	GM10266	blood:	n/a	n/a
35	E2F4	chr2:100694853-100695061	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F6	chr2:100721776-100722592	H1-hESC	embryonic stem cell:	n/a	n/a
37	E2F6	chr2:100722151-100722603	H1-hESC	embryonic stem cell:	n/a	n/a
38	EBF1	chr2:100720277-100720674	GM12878	blood:	n/a	n/a
39	EBF1	chr2:100702272-100702508	GM12878	blood:	n/a	n/a
40	EP300	chr2:100718933-100719321	GM12878	blood:	n/a	chr2:100719231-100719241
41	EP300	chr2:100720153-100720385	GM12878	blood:	n/a	n/a
42	FOXA1	chr2:100704833-100705243	HepG2	liver:	n/a	n/a
43	FOXA1	chr2:100698668-100699009	HepG2	liver:	n/a	n/a
44	FOXM1	chr2:100718918-100719375	GM12878	blood:	n/a	n/a
45	GABPA	chr2:100722310-100722549	H1-hESC	embryonic stem cell:	n/a	n/a
46	GATA3	chr2:100724251-100724542	SH-SY5Y	brain:	n/a	chr2:100724477-100724494
47	HMGN3	chr2:100721672-100721841	K562	blood:	n/a	n/a
48	IRF4	chr2:100718895-100719513	GM12878	blood:	n/a	n/a
49	IRF4	chr2:100718773-100719678	GM12878	blood:	n/a	n/a
50	JUND	chr2:100722543-100722743	H1-hESC	embryonic stem cell:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:100720179-100720229	HAEpiC	amniotic membrane:	n/a
2	chr2:100720179-100720229	HAEpiC	amniotic membrane:	n/a
3	chr2:100720179-100720229	AG04449	skin:	fetal
4	chr2:100723417-100723467	HRPEpiC	eye:	n/a
5	chr2:100722474-100722524	PrEC	prostate:	n/a
6	chr2:100721038-100721088	NT2-D1	testis:	n/a
7	chr2:100720526-100720576	ProgFib	skin:	n/a
8	chr2:100722584-100722634	NB4	blood:	n/a
9	chr2:100718912-100718962	PFSK-1	brain:	n/a
10	chr2:100722474-100722524	K562	blood:	n/a
11	chr2:100722584-100722634	HRPEpiC	eye:	n/a
12	chr2:100720526-100720576	SK-N-MC	brain:	n/a
13	chr2:100723240-100723290	HepG2	liver:	n/a
14	chr2:100720529-100720579	HCT-116	colon:	n/a
15	chr2:100722474-100722524	HCPEpiC	choroid plexus:	n/a
16	chr2:100720179-100720229	HRE	kidney:	n/a
17	chr2:100723240-100723290	SKMC	muscle:	n/a
18	chr2:100721844-100721894	GM12891	blood:	n/a
19	chr2:100722155-100722205	SKMC	muscle:	n/a
20	chr2:100721038-100721088	Jurkat	blood:	n/a
21	chr2:100723110-100723160	RPTEC	kidney:	n/a
22	chr2:100722022-100722072	U87	brain:	n/a
23	chr2:100723417-100723467	HAEpiC	amniotic membrane:	n/a
24	chr2:100721844-100721894	SKMC	muscle:	n/a
25	chr2:100720179-100720229	H1-hESC	embryonic stem cell:	embryo
26	chr2:100723240-100723290	AG04449	skin:	fetal
27	chr2:100718912-100718962	K562	blood:	n/a
28	chr2:100722474-100722524	HPAEpiC	pulmonary alveolar:	n/a
29	chr2:100718912-100718962	A549	lung:	n/a
30	chr2:100720179-100720229	U87	brain:	n/a
31	chr2:100722474-100722524	HL-60	blood:	n/a
32	chr2:100722474-100722524	SK-N-SH	brain:	n/a
33	chr2:100721038-100721088	NB4	blood:	n/a
34	chr2:100723240-100723290	PrEC	prostate:	n/a
35	chr2:100720179-100720229	A549	lung:	n/a
36	chr2:100720529-100720579	NHBE	bronchial:	n/a
37	chr2:100722408-100722458	AG09309	skin:	n/a
38	chr2:100720526-100720576	HNPCEpiC	eye:	n/a
39	chr2:100720529-100720579	T-47D	breast:	n/a
40	chr2:100722584-100722634	HL-60	blood:	n/a
41	chr2:100722474-100722524	CMK	blood:	n/a
42	chr2:100721038-100721088	ECC-1	luminal epithelium:	n/a
43	chr2:100723417-100723467	AoSMC	blood vessel:	n/a
44	chr2:100718912-100718962	IMR90	lung:	fetal
45	chr2:100722408-100722458	LNCaP	prostate:	n/a
46	chr2:100721038-100721088	AG04449	skin:	fetal
47	chr2:100722584-100722634	HCPEpiC	choroid plexus:	n/a
48	chr2:100722155-100722205	LNCaP	prostate:	n/a
49	chr2:100722584-100722634	HepG2	liver:	n/a
50	chr2:100720529-100720579	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100696366..100696914-chr3:29677129..29677707,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LONRF2-2	chr2:100705714-100705776	NONHSAT072768
2	lnc-NMS-2	chr2:100721381-100723966	ENSG00000230393.1
3	lnc-LONRF2-2	chr2:100705115-100705287	NONHSAT072768

No data

Variant related genes	Relation type
AFF3	TF binding region
ENSG00000230393	TF binding region
AFF3	CpG island
ENSG00000230393	CpG island

Extended variants
information (count: 809 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:809 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180881069	chr2:100693049-100693050	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541359061	chr2:100693077-100693078	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112572526	chr2:100693087-100693088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536253343	chr2:100693093-100693094	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535616942	chr2:100693123-100693124	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573568607	chr2:100693178-100693179	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545760635	chr2:100693190-100693191	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559346589	chr2:100693208-100693209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559171223	chr2:100693225-100693226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115316125	chr2:100693230-100693231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1814009	chr2:100693264-100693265	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs185163425	chr2:100693286-100693287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529647334	chr2:100693311-100693312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539854259	chr2:100693329-100693330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551449961	chr2:100693340-100693341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559760025	chr2:100693370-100693371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563287686	chr2:100693387-100693388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532271804	chr2:100693449-100693450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552081795	chr2:100693453-100693454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569019456	chr2:100693481-100693482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531426388	chr2:100693522-100693523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191202372	chr2:100693523-100693524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567662943	chr2:100693537-100693538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs55982857	chr2:100693540-100693541	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs375966577	chr2:100693567-100693568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183350495	chr2:100693624-100693625	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539321260	chr2:100693654-100693655	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373588469	chr2:100693660-100693661	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559306493	chr2:100693672-100693673	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376769026	chr2:100693686-100693687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187605264	chr2:100693749-100693750	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35742951	chr2:100693760-100693761	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs568300677	chr2:100693808-100693809	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535620631	chr2:100693860-100693861	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574442940	chr2:100693882-100693883	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78296390	chr2:100693887-100693888	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559698515	chr2:100693890-100693891	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576465309	chr2:100693901-100693902	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115237766	chr2:100693902-100693903	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183508463	chr2:100693903-100693904	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138927116	chr2:100694088-100694089	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17023468	chr2:100694091-100694092	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs561964443	chr2:100694137-100694138	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188064708	chr2:100694150-100694151	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6740622	chr2:100694321-100694322	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547148400	chr2:100694358-100694359	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375023871	chr2:100694373-100694374	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566836309	chr2:100694389-100694390	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539488638	chr2:100694468-100694469	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112128236	chr2:100694574-100694575	Weak transcription Enhancers Strong 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
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100664400-100699600	Weak transcription	Aorta	Aorta
2	chr2:100683000-100698200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:100683200-100719600	Weak transcription	Brain Germinal Matrix	brain
4	chr2:100686000-100698400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr2:100688400-100696800	Strong transcription	Primary B cells from cord blood	blood
6	chr2:100688400-100710800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:100688800-100696400	Weak transcription	Fetal Brain Male	brain
8	chr2:100689000-100693800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:100689000-100694400	Weak transcription	Thymus	Thymus
10	chr2:100689200-100693600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:100689200-100696000	Weak transcription	Fetal Thymus	thymus
12	chr2:100689400-100693200	Enhancers	Fetal Heart	heart
13	chr2:100689800-100696000	Weak transcription	Lung	lung
14	chr2:100690000-100695800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:100690000-100696200	Weak transcription	Right Atrium	heart
16	chr2:100690000-100720000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:100690000-100721400	Weak transcription	Dnd41	blood
18	chr2:100691200-100693800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:100691400-100715200	Weak transcription	Gastric	stomach
20	chr2:100692600-100694000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:100692800-100719400	Weak transcription	Fetal Brain Female	brain
22	chr2:100692800-100720000	Weak transcription	Ovary	ovary
23	chr2:100693000-100698000	Weak transcription	Primary T cells from cord blood	blood
24	chr2:100693000-100721600	Weak transcription	Fetal Lung	lung
25	chr2:100693200-100694400	Weak transcription	Fetal Heart	heart
26	chr2:100693200-100699600	Weak transcription	NH-A	brain
27	chr2:100693600-100694600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr2:100693800-100694200	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr2:100693800-100694600	Strong transcription	Primary hematopoietic stem cells	blood
30	chr2:100694000-100696000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:100694400-100694600	Enhancers	Thymus	Thymus
32	chr2:100694400-100696800	Enhancers	Fetal Heart	heart
33	chr2:100694600-100698200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr2:100694800-100695200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:100695800-100696800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:100696000-100696600	Strong transcription	Lung	lung
37	chr2:100696000-100696800	Enhancers	Fetal Thymus	thymus
38	chr2:100696000-100697000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:100696200-100696400	Enhancers	Right Atrium	heart
40	chr2:100696400-100696600	Enhancers	Fetal Brain Male	brain
41	chr2:100696600-100698600	Weak transcription	Lung	lung
42	chr2:100696800-100698000	Weak transcription	Fetal Heart	heart
43	chr2:100696800-100704400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:100696800-100711000	Weak transcription	Primary B cells from cord blood	blood
45	chr2:100697000-100698000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:100698000-100698400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:100698000-100698400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:100698000-100698400	Enhancers	Liver	Liver
49	chr2:100698000-100698400	Enhancers	Fetal Heart	heart
50	chr2:100698000-100698400	Enhancers	HSMMtube	muscle

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