Variant report

Variant	nsv2847
Chromosome Location	chr2:100695863-100726149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:130)
CpG islands
(count:856)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:130 , 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	chr2:100712097-100712304	IMR90	lung:	n/a	chr2:100712226-100712235 chr2:100712225-100712236 chr2:100712224-100712237
9	CEBPB	chr2:100699028-100699222	IMR90	lung:	n/a	chr2:100699083-100699096 chr2:100699083-100699096
10	CEBPB	chr2:100712118-100712355	HepG2	liver:	n/a	chr2:100712226-100712235 chr2:100712225-100712236 chr2:100712224-100712237
11	CEBPB	chr2:100696050-100696105	HepG2	liver:	n/a	chr2:100696077-100696088 chr2:100696076-100696089
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	chr2:100721806-100722653	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTBP2	chr2:100722914-100723365	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr2:100698844-100698851	LNCaP	prostate:	n/a	n/a
17	CTCF	chr2:100712500-100712650	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr2:100712396-100712531	Medullo	brain:	n/a	n/a
19	CTCF	chr2:100712415-100712532	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr2:100698783-100698836	LNCaP	prostate:	n/a	n/a
21	CTCF	chr2:100697475-100697557	GM10248	blood:	n/a	n/a
22	CTCF	chr2:100710900-100711050	A549	lung:	n/a	n/a
23	CTCF	chr2:100707581-100707599	GM10266	blood:	n/a	n/a
24	CTCF	chr2:100712426-100712476	GM10248	blood:	n/a	n/a
25	CTCF	chr2:100707566-100707573	GM10266	blood:	n/a	n/a
26	CTCF	chr2:100717199-100717242	Pancreas_OC	pancreas:	n/a	n/a
27	CTCF	chr2:100712397-100712535	GM10266	blood:	n/a	n/a
28	CTCF	chr2:100712379-100712633	A549	lung:	n/a	n/a
29	CTCF	chr2:100716678-100716726	GM20000	blood:	n/a	n/a
30	CTCF	chr2:100712384-100712561	K562	blood:	n/a	n/a
31	CTCF	chr2:100712401-100712538	GM13977	blood:	n/a	n/a
32	CTCF	chr2:100721900-100722050	HBMEC	blood vessel:	n/a	n/a
33	E2F6	chr2:100722151-100722603	H1-hESC	embryonic stem cell:	n/a	n/a
34	E2F6	chr2:100721776-100722592	H1-hESC	embryonic stem cell:	n/a	n/a
35	EBF1	chr2:100702272-100702508	GM12878	blood:	n/a	n/a
36	EBF1	chr2:100720277-100720674	GM12878	blood:	n/a	n/a
37	EP300	chr2:100718933-100719321	GM12878	blood:	n/a	chr2:100719231-100719241
38	EP300	chr2:100720153-100720385	GM12878	blood:	n/a	n/a
39	FOXA1	chr2:100704833-100705243	HepG2	liver:	n/a	n/a
40	FOXA1	chr2:100698668-100699009	HepG2	liver:	n/a	n/a
41	FOXM1	chr2:100718918-100719375	GM12878	blood:	n/a	n/a
42	GABPA	chr2:100722310-100722549	H1-hESC	embryonic stem cell:	n/a	n/a
43	GATA3	chr2:100724251-100724542	SH-SY5Y	brain:	n/a	chr2:100724477-100724494
44	HMGN3	chr2:100721672-100721841	K562	blood:	n/a	n/a
45	IRF4	chr2:100718773-100719678	GM12878	blood:	n/a	n/a
46	IRF4	chr2:100718895-100719513	GM12878	blood:	n/a	n/a
47	JUND	chr2:100722543-100722743	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr2:100721963-100722441	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAZ	chr2:100721111-100722531	IMR90	lung:	n/a	n/a
50	MXI1	chr2:100721044-100722733	IMR90	lung:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:100720526-100720576	GM12878	blood:	n/a
2	chr2:100722474-100722524	NT2-D1	testis:	n/a
3	chr2:100720526-100720576	GM12878	blood:	n/a
4	chr2:100722474-100722524	NT2-D1	testis:	n/a
5	chr2:100720179-100720229	GM12891	blood:	n/a
6	chr2:100722584-100722634	GM12891	blood:	n/a
7	chr2:100722408-100722458	GM12892	blood:	n/a
8	chr2:100722022-100722072	BE2_C	brain:	n/a
9	chr2:100721844-100721894	RPTEC	kidney:	n/a
10	chr2:100722155-100722205	CMK	blood:	n/a
11	chr2:100722408-100722458	LNCaP	prostate:	n/a
12	chr2:100721038-100721088	CMK	blood:	n/a
13	chr2:100720529-100720579	NT2-D1	testis:	n/a
14	chr2:100722584-100722634	HEEpiC	esophagus:	n/a
15	chr2:100723110-100723160	HCF	heart:	n/a
16	chr2:100721038-100721088	HNPCEpiC	eye:	n/a
17	chr2:100721038-100721088	MCF10A-Er-Src	breast:	n/a
18	chr2:100722408-100722458	HAEpiC	amniotic membrane:	n/a
19	chr2:100723240-100723290	BE2_C	brain:	n/a
20	chr2:100721844-100721894	SK-N-SH_RA	brain:	n/a
21	chr2:100722155-100722205	AG10803	skin:	n/a
22	chr2:100718912-100718962	HUVEC	blood vessel:	n/a
23	chr2:100721844-100721894	MCF10A-Er-Src	breast:	n/a
24	chr2:100722022-100722072	SAEC	small airway:	n/a
25	chr2:100718912-100718962	Hepatocyte	liver:	n/a
26	chr2:100723417-100723467	GM12878	blood:	n/a
27	chr2:100723110-100723160	NHDF-neo	bronchial:	n/a
28	chr2:100722408-100722458	PrEC	prostate:	n/a
29	chr2:100722474-100722524	HCPEpiC	choroid plexus:	n/a
30	chr2:100722155-100722205	ECC-1	luminal epithelium:	n/a
31	chr2:100723240-100723290	AG09309	skin:	n/a
32	chr2:100721844-100721894	HCM	heart:	n/a
33	chr2:100723240-100723290	GM12892	blood:	n/a
34	chr2:100720526-100720576	HEEpiC	esophagus:	n/a
35	chr2:100722408-100722458	T-47D	breast:	n/a
36	chr2:100722584-100722634	HCPEpiC	choroid plexus:	n/a
37	chr2:100722022-100722072	GM06990	blood:	n/a
38	chr2:100721844-100721894	AG04450	lung:	fetal
39	chr2:100720526-100720576	HMEC	breast:	n/a
40	chr2:100722584-100722634	ProgFib	skin:	n/a
41	chr2:100720526-100720576	HEK293	kidney:	embryo
42	chr2:100720526-100720576	BJ	skin:	n/a
43	chr2:100723240-100723290	HCF	heart:	n/a
44	chr2:100723240-100723290	NH-A	brain:	n/a
45	chr2:100721038-100721088	HAEpiC	amniotic membrane:	n/a
46	chr2:100720526-100720576	HCF	heart:	n/a
47	chr2:100722474-100722524	SK-N-MC	brain:	n/a
48	chr2:100723110-100723160	GM12892	blood:	n/a
49	chr2:100720526-100720576	HNPCEpiC	eye:	n/a
50	chr2:100722584-100722634	HIPEpiC	eye:	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	chr2:100705115-100705287	NONHSAT072768
2	lnc-LONRF2-2	chr2:100705714-100705776	NONHSAT072768
3	lnc-NMS-2	chr2:100721381-100723966	ENSG00000230393.1

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: 715 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:715 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376610238	chr2:100695869-100695870	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149852073	chr2:100696026-100696027	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536385499	chr2:100696111-100696112	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373496571	chr2:100696117-100696118	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368375838	chr2:100696120-100696121	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531747544	chr2:100696282-100696283	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115978271	chr2:100696292-100696293	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542725994	chr2:100696293-100696294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568418197	chr2:100696303-100696304	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528017615	chr2:100696317-100696318	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547581753	chr2:100696318-100696319	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182020199	chr2:100696422-100696423	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561897689	chr2:100696436-100696437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554794387	chr2:100696452-100696453	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539140946	chr2:100696455-100696456	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556237247	chr2:100696470-100696471	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116617107	chr2:100696536-100696537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186479869	chr2:100696613-100696614	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555661415	chr2:100696637-100696638	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537397702	chr2:100696680-100696681	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529453584	chr2:100696694-100696695	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192164333	chr2:100696737-100696738	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541385786	chr2:100696739-100696740	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144864057	chr2:100696757-100696758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72966479	chr2:100696765-100696766	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs139751563	chr2:100696789-100696790	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563021391	chr2:100696822-100696823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74340261	chr2:100696827-100696828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369129881	chr2:100696896-100696897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556623501	chr2:100696897-100696898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559278365	chr2:100696900-100696901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34573788	chr2:100696920-100696921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35633378	chr2:100696923-100696924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567729905	chr2:100696927-100696928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115149080	chr2:100696977-100696978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576454551	chr2:100696981-100696982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527956494	chr2:100696988-100696989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369147251	chr2:100696995-100696996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547718010	chr2:100697013-100697014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533338240	chr2:100697016-100697017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564303289	chr2:100697051-100697052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533593264	chr2:100697058-100697059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200410682	chr2:100697060-100697061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549561773	chr2:100697153-100697154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569740786	chr2:100697183-100697184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9784000	chr2:100697201-100697202	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs548998864	chr2:100697236-100697237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371262650	chr2:100697335-100697336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145229439	chr2:100697436-100697437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570054391	chr2:100697438-100697439	Weak transcription 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:503 , 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	chr2:100689200-100696000	Weak transcription	Fetal Thymus	thymus
9	chr2:100689800-100696000	Weak transcription	Lung	lung
10	chr2:100690000-100696200	Weak transcription	Right Atrium	heart
11	chr2:100690000-100720000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:100690000-100721400	Weak transcription	Dnd41	blood
13	chr2:100691400-100715200	Weak transcription	Gastric	stomach
14	chr2:100692800-100719400	Weak transcription	Fetal Brain Female	brain
15	chr2:100692800-100720000	Weak transcription	Ovary	ovary
16	chr2:100693000-100698000	Weak transcription	Primary T cells from cord blood	blood
17	chr2:100693000-100721600	Weak transcription	Fetal Lung	lung
18	chr2:100693200-100699600	Weak transcription	NH-A	brain
19	chr2:100694000-100696000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:100694400-100696800	Enhancers	Fetal Heart	heart
21	chr2:100694600-100698200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:100695800-100696800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:100696000-100696600	Strong transcription	Lung	lung
24	chr2:100696000-100696800	Enhancers	Fetal Thymus	thymus
25	chr2:100696000-100697000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:100696200-100696400	Enhancers	Right Atrium	heart
27	chr2:100696400-100696600	Enhancers	Fetal Brain Male	brain
28	chr2:100696600-100698600	Weak transcription	Lung	lung
29	chr2:100696800-100698000	Weak transcription	Fetal Heart	heart
30	chr2:100696800-100704400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:100696800-100711000	Weak transcription	Primary B cells from cord blood	blood
32	chr2:100697000-100698000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:100698000-100698400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:100698000-100698400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:100698000-100698400	Enhancers	Liver	Liver
36	chr2:100698000-100698400	Enhancers	Fetal Heart	heart
37	chr2:100698000-100698400	Enhancers	HSMMtube	muscle
38	chr2:100698200-100698400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:100698200-100698400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:100698400-100699400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:100698400-100699400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr2:100698400-100699600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:100698400-100699600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:100698400-100699600	Weak transcription	Fetal Heart	heart
45	chr2:100699400-100699600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:100699400-100699800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr2:100699400-100699800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr2:100699600-100699800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:100699600-100699800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:100699600-100700000	Enhancers	Aorta	Aorta

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