Variant report

Variant	nsv582227
Chromosome Location	chr2:76662404-76712789
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:260)
CpG islands
(count:184)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:76664827-76665052	K562	blood:	n/a	n/a
2	ATF3	chr2:76664748-76664995	K562	blood:	n/a	n/a
3	BATF	chr2:76677312-76677682	GM12878	blood:	n/a	chr2:76677532-76677543
4	BATF	chr2:76672257-76672566	GM12878	blood:	n/a	n/a
5	BATF	chr2:76677367-76677642	GM12878	blood:	n/a	chr2:76677532-76677543
6	BCL11A	chr2:76677294-76677677	GM12878	blood:	n/a	chr2:76677532-76677541 chr2:76677531-76677540
7	BCL11A	chr2:76677273-76677669	GM12878	blood:	n/a	chr2:76677532-76677541 chr2:76677531-76677540
8	BCL11A	chr2:76672342-76672514	GM12878	blood:	n/a	n/a
9	BHLHE40	chr2:76674678-76674702	GM12878	blood:	n/a	n/a
10	BHLHE40	chr2:76677028-76677791	GM12878	blood:	n/a	n/a
11	BHLHE40	chr2:76672988-76673427	GM12878	blood:	n/a	n/a
12	CBX3	chr2:76672324-76672575	K562	blood:	n/a	n/a
13	CEBPB	chr2:76671548-76671857	A549	lung:	n/a	chr2:76671686-76671699
14	CEBPB	chr2:76677893-76678050	A549	lung:	n/a	n/a
15	CEBPB	chr2:76664717-76665096	K562	blood:	n/a	chr2:76664885-76664896
16	CEBPB	chr2:76671535-76671853	HepG2	liver:	n/a	chr2:76671686-76671699
17	CEBPB	chr2:76677879-76678560	HepG2	liver:	n/a	n/a
18	CEBPB	chr2:76681837-76682151	HepG2	liver:	n/a	chr2:76681975-76681986
19	CEBPB	chr2:76681877-76682114	A549	lung:	n/a	chr2:76681975-76681986
20	CEBPB	chr2:76664751-76665017	HepG2	liver:	n/a	chr2:76664885-76664896
21	CHD1	chr2:76691539-76691643	GM12878	blood:	n/a	n/a
22	CHD1	chr2:76674597-76674742	GM12878	blood:	n/a	n/a
23	CHD2	chr2:76692627-76692630	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr2:76678041-76678047	GM12878	blood:	n/a	n/a
25	CHD2	chr2:76672988-76673329	GM12878	blood:	n/a	n/a
26	CHD2	chr2:76677097-76677691	GM12878	blood:	n/a	n/a
27	CTCF	chr2:76676200-76676350	NB4	blood:	n/a	n/a
28	CTCF	chr2:76691620-76691770	BE2_C	brain:	n/a	n/a
29	CTCF	chr2:76691587-76691714	LNCaP	prostate:	n/a	chr2:76691617-76691638
30	CTCF	chr2:76691626-76691702	GM19238	blood:	n/a	n/a
31	CTCF	chr2:76691484-76691800	K562	blood:	n/a	chr2:76691617-76691638
32	CTCF	chr2:76665675-76665699	GM13977	blood:	n/a	n/a
33	CTCF	chr2:76691462-76691718	H1-hESC	embryonic stem cell:	n/a	chr2:76691617-76691638
34	CTCF	chr2:76691558-76691753	MCF-7	breast:	n/a	chr2:76691617-76691638
35	CTCF	chr2:76691501-76691719	HepG2	liver:	n/a	chr2:76691617-76691638
36	CTCF	chr2:76691480-76691630	HEEpiC	esophagus:	n/a	n/a
37	CTCF	chr2:76676200-76676350	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr2:76676228-76676238	LNCaP	prostate:	n/a	n/a
39	CTCF	chr2:76691520-76691670	GM12878	blood:	n/a	chr2:76691617-76691638
40	CTCF	chr2:76691520-76691670	HRPEpiC	eye:	n/a	chr2:76691617-76691638
41	CTCF	chr2:76691618-76691702	GM20000	blood:	n/a	n/a
42	CTCF	chr2:76708540-76708690	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr2:76691454-76691829	GM12878	blood:	n/a	chr2:76691617-76691638
44	CTCF	chr2:76691560-76691710	HRPEpiC	eye:	n/a	chr2:76691617-76691638
45	CTCF	chr2:76691520-76691670	Caco-2	colon:	n/a	chr2:76691617-76691638
46	CTCF	chr2:76691567-76691697	Medullo	brain:	n/a	chr2:76691617-76691638
47	CTCF	chr2:76691443-76691894	MCF-7	breast:	n/a	chr2:76691617-76691638
48	CTCF	chr2:76691661-76691665	HepG2	liver:	n/a	n/a
49	CTCF	chr2:76691642-76691710	MCF-7	breast:	n/a	n/a
50	CTCF	chr2:76676240-76676277	LNCaP	prostate:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:76672386-76672436	ovcar-3	ovarian:	n/a
2	chr2:76672386-76672436	ovcar-3	ovarian:	n/a
3	chr2:76672386-76672436	NB4	blood:	n/a
4	chr2:76705915-76705965	HCM	heart:	n/a
5	chr2:76674458-76674508	HNPCEpiC	eye:	n/a
6	chr2:76674458-76674508	AG04449	skin:	fetal
7	chr2:76672386-76672436	HAEpiC	amniotic membrane:	n/a
8	chr2:76705915-76705965	PrEC	prostate:	n/a
9	chr2:76705915-76705965	A549	lung:	n/a
10	chr2:76705915-76705965	HRE	kidney:	n/a
11	chr2:76672386-76672436	ProgFib	skin:	n/a
12	chr2:76705915-76705965	HepG2	liver:	n/a
13	chr2:76705915-76705965	SAEC	small airway:	n/a
14	chr2:76674458-76674508	HRPEpiC	eye:	n/a
15	chr2:76674458-76674508	SKMC	muscle:	n/a
16	chr2:76705915-76705965	GM19239	blood:	n/a
17	chr2:76705915-76705965	NH-A	brain:	n/a
18	chr2:76672386-76672436	U87	brain:	n/a
19	chr2:76674458-76674508	HPAEpiC	pulmonary alveolar:	n/a
20	chr2:76705915-76705965	ProgFib	skin:	n/a
21	chr2:76672386-76672436	SK-N-MC	brain:	n/a
22	chr2:76705915-76705965	NHBE	bronchial:	n/a
23	chr2:76674458-76674508	LNCaP	prostate:	n/a
24	chr2:76674458-76674508	PANC-1	pancreas:	n/a
25	chr2:76672386-76672436	HRE	kidney:	n/a
26	chr2:76705915-76705965	NB4	blood:	n/a
27	chr2:76674458-76674508	PrEC	prostate:	n/a
28	chr2:76674458-76674508	PFSK-1	brain:	n/a
29	chr2:76674458-76674508	Hela-S3	cervix:	n/a
30	chr2:76674458-76674508	NHBE	bronchial:	n/a
31	chr2:76705915-76705965	AG04450	lung:	fetal
32	chr2:76672386-76672436	ECC-1	luminal epithelium:	n/a
33	chr2:76674458-76674508	ovcar-3	ovarian:	n/a
34	chr2:76672386-76672436	AG10803	skin:	n/a
35	chr2:76705915-76705965	HPAEpiC	pulmonary alveolar:	n/a
36	chr2:76672386-76672436	NHDF-neo	bronchial:	n/a
37	chr2:76705915-76705965	NT2-D1	testis:	n/a
38	chr2:76672386-76672436	PANC-1	pancreas:	n/a
39	chr2:76705915-76705965	AoSMC	blood vessel:	n/a
40	chr2:76705915-76705965	SK-N-SH_RA	brain:	n/a
41	chr2:76672386-76672436	MCF-7	breast:	n/a
42	chr2:76705915-76705965	HIPEpiC	eye:	n/a
43	chr2:76674458-76674508	IMR90	lung:	fetal
44	chr2:76674458-76674508	H1-hESC	embryonic stem cell:	embryo
45	chr2:76705915-76705965	K562	blood:	n/a
46	chr2:76705915-76705965	SKMC	muscle:	n/a
47	chr2:76705915-76705965	AG09319	gingival:	n/a
48	chr2:76674458-76674508	HMEC	breast:	n/a
49	chr2:76674458-76674508	BE2_C	brain:	n/a
50	chr2:76705915-76705965	HCT-116	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:80860013..80860777-chr2:76680632..76681152,2	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SKP203	TF binding region
RN7SKP203	CpG island

Extended variants
information (count: 1555 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1555 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11687001	chr2:76662404-76662405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs62166036	chr2:76662463-76662464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573159836	chr2:76662472-76662473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540246837	chr2:76662502-76662503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561904659	chr2:76662547-76662548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371554998	chr2:76662602-76662603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75186925	chr2:76662604-76662605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181613792	chr2:76662670-76662671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186357660	chr2:76662671-76662672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62166037	chr2:76662749-76662750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs533212433	chr2:76662754-76662755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551558384	chr2:76662794-76662795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560468430	chr2:76662797-76662798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190708651	chr2:76662820-76662821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377761350	chr2:76662823-76662824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548985614	chr2:76662828-76662829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546580198	chr2:76662845-76662846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371499707	chr2:76662863-76662864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182221993	chr2:76662884-76662885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537837854	chr2:76662928-76662929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186060047	chr2:76662969-76662970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536461636	chr2:76662999-76663000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368288821	chr2:76663003-76663004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542766363	chr2:76663004-76663005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs398060317	chr2:76663012-76663013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397870671	chr2:76663013-76663014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12477485	chr2:76663014-76663015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539653256	chr2:76663081-76663082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150412265	chr2:76663098-76663099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573220814	chr2:76663121-76663122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534250074	chr2:76663124-76663125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556007254	chr2:76663150-76663151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555531752	chr2:76663158-76663159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544594892	chr2:76663194-76663195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138194657	chr2:76663195-76663196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575858873	chr2:76663212-76663213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578115657	chr2:76663246-76663247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190934526	chr2:76663248-76663249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545240936	chr2:76663256-76663257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569324666	chr2:76663263-76663264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183098926	chr2:76663266-76663267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527460852	chr2:76663291-76663292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549043290	chr2:76663294-76663295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561233076	chr2:76663296-76663297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536842390	chr2:76663301-76663302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143084721	chr2:76663332-76663333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555461601	chr2:76663339-76663340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114894742	chr2:76663350-76663351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571024864	chr2:76663402-76663403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78753401	chr2:76663403-76663404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
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
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76659200-76677000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:76672400-76672800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr2:76672800-76673800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:76673800-76674600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:76673800-76674800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:76674000-76674400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:76674000-76674600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:76674000-76674800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:76674200-76674600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr2:76674200-76674800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:76674200-76674800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr2:76674200-76674800	Enhancers	GM12878-XiMat	blood
13	chr2:76674800-76677000	Weak transcription	GM12878-XiMat	blood
14	chr2:76674800-76677400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:76675200-76675600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:76676200-76676400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:76677000-76677600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:76677000-76678000	Enhancers	GM12878-XiMat	blood
19	chr2:76677200-76677600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:76677200-76677600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:76677200-76677800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr2:76677200-76677800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:76677200-76677800	Enhancers	Stomach Mucosa	stomach
24	chr2:76677400-76677600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:76677600-76686000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:76684400-76685000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:76684800-76685200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:76685000-76686800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:76686400-76686800	Enhancers	Brain Germinal Matrix	brain
30	chr2:76686800-76687200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:76692600-76693400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:76694400-76694800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:76694400-76694800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:76694600-76694800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr2:76694800-76696600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:76694800-76705800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:76695800-76697000	Enhancers	HUVEC	blood vessel
38	chr2:76696600-76696800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:76698800-76699000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:76700200-76701200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr2:76700600-76701400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr2:76701200-76705400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:76704800-76705000	Enhancers	Fetal Muscle Leg	muscle
44	chr2:76704800-76706600	Enhancers	H9 Cell Line	embryonic stem cell
45	chr2:76705000-76706000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr2:76705000-76706200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr2:76705200-76706000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:76705400-76706200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:76705400-76706200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr2:76705600-76706000	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links