Variant report

Variant	nsv963672
Chromosome Location	chr2:100697382-100722177
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:113)
CpG islands
(count:488)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:113 , 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	chr2:100718898-100719582	GM12878	blood:	n/a	n/a
3	BATF	chr2:100718925-100719646	GM12878	blood:	n/a	n/a
4	BCL11A	chr2:100718827-100719589	GM12878	blood:	n/a	n/a
5	BCL11A	chr2:100718979-100719530	GM12878	blood:	n/a	n/a
6	BHLHE40	chr2:100710140-100710442	HepG2	liver:	n/a	chr2:100710250-100710263
7	CEBPB	chr2:100712097-100712304	IMR90	lung:	n/a	chr2:100712226-100712235 chr2:100712225-100712236 chr2:100712224-100712237
8	CEBPB	chr2:100712214-100712246	A549	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	CTBP2	chr2:100721806-100722653	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr2:100712379-100712633	A549	lung:	n/a	n/a
13	CTCF	chr2:100716678-100716726	GM20000	blood:	n/a	n/a
14	CTCF	chr2:100712426-100712476	GM10248	blood:	n/a	n/a
15	CTCF	chr2:100707581-100707599	GM10266	blood:	n/a	n/a
16	CTCF	chr2:100707566-100707573	GM10266	blood:	n/a	n/a
17	CTCF	chr2:100712397-100712535	GM10266	blood:	n/a	n/a
18	CTCF	chr2:100712401-100712538	GM13977	blood:	n/a	n/a
19	CTCF	chr2:100712396-100712531	Medullo	brain:	n/a	n/a
20	CTCF	chr2:100712415-100712532	Spleen_OC	spleen:	n/a	n/a
21	CTCF	chr2:100710900-100711050	A549	lung:	n/a	n/a
22	CTCF	chr2:100717199-100717242	Pancreas_OC	pancreas:	n/a	n/a
23	CTCF	chr2:100698844-100698851	LNCaP	prostate:	n/a	n/a
24	CTCF	chr2:100698783-100698836	LNCaP	prostate:	n/a	n/a
25	CTCF	chr2:100712500-100712650	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr2:100712384-100712561	K562	blood:	n/a	n/a
27	CTCF	chr2:100697475-100697557	GM10248	blood:	n/a	n/a
28	CTCF	chr2:100721900-100722050	HBMEC	blood vessel:	n/a	n/a
29	E2F6	chr2:100721776-100722592	H1-hESC	embryonic stem cell:	n/a	n/a
30	E2F6	chr2:100722151-100722603	H1-hESC	embryonic stem cell:	n/a	n/a
31	EBF1	chr2:100702272-100702508	GM12878	blood:	n/a	n/a
32	EBF1	chr2:100720277-100720674	GM12878	blood:	n/a	n/a
33	EP300	chr2:100720153-100720385	GM12878	blood:	n/a	n/a
34	EP300	chr2:100718933-100719321	GM12878	blood:	n/a	chr2:100719231-100719241
35	FOXA1	chr2:100698668-100699009	HepG2	liver:	n/a	n/a
36	FOXA1	chr2:100704833-100705243	HepG2	liver:	n/a	n/a
37	FOXM1	chr2:100718918-100719375	GM12878	blood:	n/a	n/a
38	HMGN3	chr2:100721672-100721841	K562	blood:	n/a	n/a
39	IRF4	chr2:100718895-100719513	GM12878	blood:	n/a	n/a
40	IRF4	chr2:100718773-100719678	GM12878	blood:	n/a	n/a
41	MAX	chr2:100721963-100722441	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAZ	chr2:100721111-100722531	IMR90	lung:	n/a	n/a
43	MXI1	chr2:100721044-100722733	IMR90	lung:	n/a	n/a
44	NFIC	chr2:100718899-100719479	GM12878	blood:	n/a	n/a
45	NFIC	chr2:100718881-100719500	GM12878	blood:	n/a	n/a
46	PAX5	chr2:100720081-100720663	GM12878	blood:	n/a	chr2:100720242-100720251 chr2:100720504-100720513 chr2:100720501-100720510
47	PAX5	chr2:100718959-100719119	GM12878	blood:	n/a	n/a
48	PAX5	chr2:100718855-100719370	GM12878	blood:	n/a	n/a
49	POLR2A	chr2:100721042-100721185	GM12878	blood:	n/a	n/a
50	POLR2A	chr2:100720207-100720847	GM12892	blood:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:100722155-100722205	RPTEC	kidney:	n/a
2	chr2:100722022-100722072	LNCaP	prostate:	n/a
3	chr2:100720179-100720229	AG04450	lung:	fetal
4	chr2:100721038-100721088	CMK	blood:	n/a
5	chr2:100722022-100722072	HCT-116	colon:	n/a
6	chr2:100720526-100720576	NH-A	brain:	n/a
7	chr2:100722022-100722072	PFSK-1	brain:	n/a
8	chr2:100718912-100718962	HCF	heart:	n/a
9	chr2:100721844-100721894	SKMC	muscle:	n/a
10	chr2:100718912-100718962	AG10803	skin:	n/a
11	chr2:100721038-100721088	ProgFib	skin:	n/a
12	chr2:100721038-100721088	SKMC	muscle:	n/a
13	chr2:100722022-100722072	BE2_C	brain:	n/a
14	chr2:100722155-100722205	NT2-D1	testis:	n/a
15	chr2:100720526-100720576	HEEpiC	esophagus:	n/a
16	chr2:100720529-100720579	HCT-116	colon:	n/a
17	chr2:100722022-100722072	AG04449	skin:	fetal
18	chr2:100720179-100720229	HCT-116	colon:	n/a
19	chr2:100722022-100722072	AG09319	gingival:	n/a
20	chr2:100722022-100722072	HPAEpiC	pulmonary alveolar:	n/a
21	chr2:100720179-100720229	BJ	skin:	n/a
22	chr2:100721844-100721894	HepG2	liver:	n/a
23	chr2:100721844-100721894	NT2-D1	testis:	n/a
24	chr2:100721038-100721088	HepG2	liver:	n/a
25	chr2:100721038-100721088	Hela-S3	cervix:	n/a
26	chr2:100720526-100720576	HNPCEpiC	eye:	n/a
27	chr2:100721844-100721894	HEEpiC	esophagus:	n/a
28	chr2:100720529-100720579	BJ	skin:	n/a
29	chr2:100722155-100722205	ProgFib	skin:	n/a
30	chr2:100722022-100722072	HCPEpiC	choroid plexus:	n/a
31	chr2:100722022-100722072	HL-60	blood:	n/a
32	chr2:100720179-100720229	Hepatocyte	liver:	n/a
33	chr2:100722022-100722072	A549	lung:	n/a
34	chr2:100718912-100718962	Caco-2	colon:	n/a
35	chr2:100718912-100718962	HNPCEpiC	eye:	n/a
36	chr2:100721038-100721088	HCPEpiC	choroid plexus:	n/a
37	chr2:100720526-100720576	HAEpiC	amniotic membrane:	n/a
38	chr2:100720529-100720579	AG04450	lung:	fetal
39	chr2:100720179-100720229	SK-N-SH	brain:	n/a
40	chr2:100722022-100722072	NH-A	brain:	n/a
41	chr2:100722022-100722072	MCF-7	breast:	n/a
42	chr2:100721844-100721894	HRPEpiC	eye:	n/a
43	chr2:100718912-100718962	A549	lung:	n/a
44	chr2:100721844-100721894	GM12878	blood:	n/a
45	chr2:100720526-100720576	Hepatocyte	liver:	n/a
46	chr2:100721038-100721088	AG04449	skin:	fetal
47	chr2:100718912-100718962	Jurkat	blood:	n/a
48	chr2:100721844-100721894	K562	blood:	n/a
49	chr2:100721038-100721088	SK-N-SH_RA	brain:	n/a
50	chr2:100718912-100718962	U87	brain:	n/a

No data

(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: 562 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:562 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145229439	chr2:100697436-100697437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570054391	chr2:100697438-100697439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558100678	chr2:100697439-100697440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577736414	chr2:100697557-100697558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537255515	chr2:100697586-100697587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556343939	chr2:100697587-100697588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374815888	chr2:100697620-100697621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537103454	chr2:100697638-100697639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561731026	chr2:100697668-100697669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144434396	chr2:100697707-100697708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541296791	chr2:100697862-100697863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564441985	chr2:100697879-100697880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201551539	chr2:100697892-100697893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533322581	chr2:100697924-100697925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567459577	chr2:100697935-100697936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562622558	chr2:100697954-100697955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550341430	chr2:100697957-100697958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534864489	chr2:100697963-100697964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563777953	chr2:100698114-100698115	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2576658	chr2:100698135-100698136	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188493450	chr2:100698161-100698162	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191344332	chr2:100698163-100698164	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140298852	chr2:100698169-100698170	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564815135	chr2:100698186-100698187	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534627910	chr2:100698210-100698211	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2666318	chr2:100698257-100698258	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551657276	chr2:100698270-100698271	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2576659	chr2:100698319-100698320	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571529395	chr2:100698335-100698336	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536991724	chr2:100698427-100698428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371257466	chr2:100698494-100698495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577896976	chr2:100698513-100698514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557094726	chr2:100698606-100698607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545307250	chr2:100698654-100698655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556653203	chr2:100698697-100698698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372919453	chr2:100698728-100698729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62149342	chr2:100698936-100698937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182514378	chr2:100698974-100698975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150932710	chr2:100698988-100698989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575196825	chr2:100699019-100699020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555463061	chr2:100699047-100699048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140748902	chr2:100699062-100699063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541036285	chr2:100699096-100699097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557905172	chr2:100699232-100699233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578195257	chr2:100699238-100699239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186775179	chr2:100699247-100699248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563891950	chr2:100699354-100699355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529480115	chr2:100699437-100699438	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542718928	chr2:100699467-100699468	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150085702	chr2:100699474-100699475	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:345 , 50 per page) page: 1 2 3 4 5 6 7

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	chr2:100688400-100710800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:100690000-100720000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:100690000-100721400	Weak transcription	Dnd41	blood
8	chr2:100691400-100715200	Weak transcription	Gastric	stomach
9	chr2:100692800-100719400	Weak transcription	Fetal Brain Female	brain
10	chr2:100692800-100720000	Weak transcription	Ovary	ovary
11	chr2:100693000-100698000	Weak transcription	Primary T cells from cord blood	blood
12	chr2:100693000-100721600	Weak transcription	Fetal Lung	lung
13	chr2:100693200-100699600	Weak transcription	NH-A	brain
14	chr2:100694600-100698200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:100696600-100698600	Weak transcription	Lung	lung
16	chr2:100696800-100698000	Weak transcription	Fetal Heart	heart
17	chr2:100696800-100704400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:100696800-100711000	Weak transcription	Primary B cells from cord blood	blood
19	chr2:100697000-100698000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:100698000-100698400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:100698000-100698400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:100698000-100698400	Enhancers	Liver	Liver
23	chr2:100698000-100698400	Enhancers	Fetal Heart	heart
24	chr2:100698000-100698400	Enhancers	HSMMtube	muscle
25	chr2:100698200-100698400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:100698200-100698400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:100698400-100699400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:100698400-100699400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr2:100698400-100699600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:100698400-100699600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:100698400-100699600	Weak transcription	Fetal Heart	heart
32	chr2:100699400-100699600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:100699400-100699800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:100699400-100699800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr2:100699600-100699800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:100699600-100699800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:100699600-100700000	Enhancers	Aorta	Aorta
38	chr2:100699600-100700200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:100699600-100700200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:100699600-100700200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:100699600-100700200	Enhancers	Fetal Heart	heart
42	chr2:100699600-100700200	Enhancers	NH-A	brain
43	chr2:100699600-100700200	Enhancers	Osteobl	bone
44	chr2:100699600-100700400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:100699800-100700000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:100699800-100700000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr2:100699800-100700000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:100699800-100700200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:100699800-100704600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr2:100700000-100700200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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