Variant report

Variant	nsv471510
Chromosome Location	chr2:152434354-152466137
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:259)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:259 , 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	BATF	chr2:152458334-152458665	GM12878	blood:	n/a	n/a
2	BATF	chr2:152447781-152448112	GM12878	blood:	n/a	n/a
3	BATF	chr2:152437230-152437561	GM12878	blood:	n/a	n/a
4	BCL11A	chr2:152437248-152437547	GM12878	blood:	n/a	n/a
5	BCL11A	chr2:152458352-152458651	GM12878	blood:	n/a	n/a
6	BCL11A	chr2:152447799-152448098	GM12878	blood:	n/a	n/a
7	CEBPB	chr2:152453798-152454061	K562	blood:	n/a	n/a
8	CEBPB	chr2:152464347-152464575	K562	blood:	n/a	n/a
9	CEBPB	chr2:152443187-152443552	K562	blood:	n/a	n/a
10	CEBPB	chr2:152453747-152454114	K562	blood:	n/a	n/a
11	CEBPB	chr2:152464307-152464657	K562	blood:	n/a	n/a
12	CEBPB	chr2:152443242-152443477	K562	blood:	n/a	n/a
13	CEBPD	chr2:152448226-152448506	K562	blood:	n/a	n/a
14	CTCF	chr2:152443257-152443489	A549	lung:	n/a	n/a
15	CTCF	chr2:152453805-152454059	A549	lung:	n/a	n/a
16	CTCF	chr2:152458330-152458702	A549	lung:	n/a	n/a
17	CTCF	chr2:152443420-152443451	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr2:152458304-152458732	K562	blood:	n/a	n/a
19	CTCF	chr2:152458313-152458724	A549	lung:	n/a	n/a
20	CTCF	chr2:152458428-152458671	Pancreas_OC	pancreas:	n/a	n/a
21	CTCF	chr2:152437226-152437598	A549	lung:	n/a	n/a
22	CTCF	chr2:152448388-152448395	GM10248	blood:	n/a	n/a
23	CTCF	chr2:152437301-152437580	GM13976	blood:	n/a	n/a
24	CTCF	chr2:152437303-152437589	GM13977	blood:	n/a	n/a
25	CTCF	chr2:152464351-152464605	A549	lung:	n/a	n/a
26	CTCF	chr2:152448240-152448390	HVMF	connective:	n/a	n/a
27	CTCF	chr2:152453745-152454184	A549	lung:	n/a	n/a
28	CTCF	chr2:152447845-152448150	GM13977	blood:	n/a	n/a
29	CTCF	chr2:152447841-152448151	GM10248	blood:	n/a	n/a
30	CTCF	chr2:152447721-152448208	A549	lung:	n/a	n/a
31	CTCF	chr2:152438351-152438392	GM10266	blood:	n/a	n/a
32	CTCF	chr2:152447863-152448124	GM13976	blood:	n/a	n/a
33	CTCF	chr2:152436276-152436278	Lung_OC	lung:	n/a	n/a
34	CTCF	chr2:152448240-152448390	AG09319	gingival:	n/a	n/a
35	CTCF	chr2:152437298-152437583	LNCaP	prostate:	n/a	n/a
36	CTCF	chr2:152447835-152448140	A549	lung:	n/a	n/a
37	CTCF	chr2:152448240-152448390	GM06990	blood:	n/a	n/a
38	CTCF	chr2:152453810-152454042	A549	lung:	n/a	n/a
39	CTCF	chr2:152437076-152437179	GM20000	blood:	n/a	n/a
40	CTCF	chr2:152448500-152448650	GM12878	blood:	n/a	n/a
41	CTCF	chr2:152437316-152437578	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr2:152458274-152458761	A549	lung:	n/a	n/a
43	CTCF	chr2:152458381-152458714	Medullo	brain:	n/a	n/a
44	CTCF	chr2:152458416-152458694	LNCaP	prostate:	n/a	n/a
45	CTCF	chr2:152447828-152448153	Medullo	brain:	n/a	n/a
46	CTCF	chr2:152453906-152453944	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr2:152437170-152437657	A549	lung:	n/a	n/a
48	CTCF	chr2:152437205-152437716	K562	blood:	n/a	n/a
49	CTCF	chr2:152458373-152458722	K562	blood:	n/a	n/a
50	CTCF	chr2:152438771-152438845	GM10248	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:152440445-152440495	HL-60	blood:	n/a
2	chr2:152440445-152440495	HCPEpiC	choroid plexus:	n/a
3	chr2:152440445-152440495	AG10803	skin:	n/a
4	chr2:152440445-152440495	SK-N-SH	brain:	n/a
5	chr2:152440445-152440495	GM12892	blood:	n/a
6	chr2:152440445-152440495	HUVEC	blood vessel:	n/a
7	chr2:152440445-152440495	HMEC	breast:	n/a
8	chr2:152440445-152440495	BE2_C	brain:	n/a
9	chr2:152440445-152440495	HEEpiC	esophagus:	n/a
10	chr2:152440445-152440495	NHDF-neo	bronchial:	n/a
11	chr2:152440445-152440495	HRPEpiC	eye:	n/a
12	chr2:152440445-152440495	MCF10A-Er-Src	breast:	n/a
13	chr2:152440445-152440495	HepG2	liver:	n/a
14	chr2:152440445-152440495	IMR90	lung:	fetal
15	chr2:152440445-152440495	HAEpiC	amniotic membrane:	n/a
16	chr2:152440445-152440495	GM19239	blood:	n/a
17	chr2:152440445-152440495	BJ	skin:	n/a
18	chr2:152440445-152440495	AG09319	gingival:	n/a
19	chr2:152440445-152440495	HCF	heart:	n/a
20	chr2:152440445-152440495	SAEC	small airway:	n/a
21	chr2:152440445-152440495	ovcar-3	ovarian:	n/a
22	chr2:152440445-152440495	LNCaP	prostate:	n/a
23	chr2:152440445-152440495	AoSMC	blood vessel:	n/a
24	chr2:152440445-152440495	NH-A	brain:	n/a
25	chr2:152440445-152440495	H1-hESC	embryonic stem cell:	embryo
26	chr2:152440445-152440495	SK-N-SH_RA	brain:	n/a
27	chr2:152440445-152440495	HEK293	kidney:	embryo
28	chr2:152440445-152440495	ECC-1	luminal epithelium:	n/a
29	chr2:152440445-152440495	NT2-D1	testis:	n/a
30	chr2:152440445-152440495	GM12878	blood:	n/a
31	chr2:152440445-152440495	AG04449	skin:	fetal
32	chr2:152440445-152440495	U87	brain:	n/a
33	chr2:152440445-152440495	PANC-1	pancreas:	n/a
34	chr2:152440445-152440495	MCF-7	breast:	n/a
35	chr2:152440445-152440495	NB4	blood:	n/a
36	chr2:152440445-152440495	PrEC	prostate:	n/a
37	chr2:152440445-152440495	GM06990	blood:	n/a
38	chr2:152440445-152440495	SKMC	muscle:	n/a
39	chr2:152440445-152440495	NHBE	bronchial:	n/a
40	chr2:152440445-152440495	RPTEC	kidney:	n/a
41	chr2:152440445-152440495	HCT-116	colon:	n/a
42	chr2:152440445-152440495	SK-N-MC	brain:	n/a
43	chr2:152440445-152440495	Caco-2	colon:	n/a
44	chr2:152440445-152440495	Hepatocyte	liver:	n/a
45	chr2:152440445-152440495	Hela-S3	cervix:	n/a
46	chr2:152440445-152440495	AG04450	lung:	fetal
47	chr2:152440445-152440495	HCM	heart:	n/a
48	chr2:152440445-152440495	AG09309	skin:	n/a
49	chr2:152440445-152440495	PFSK-1	brain:	n/a
50	chr2:152440445-152440495	T-47D	breast:	n/a

No data

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

Extended variants
information (count: 383 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555516873	chr2:152434360-152434361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188291311	chr2:152434385-152434386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138054267	chr2:152434423-152434424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377039628	chr2:152434427-152434428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558150698	chr2:152434434-152434435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538907698	chr2:152434438-152434439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs578224884	chr2:152434467-152434468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79722563	chr2:152434512-152434513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75983376	chr2:152434520-152434521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145984054	chr2:152434548-152434549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138505166	chr2:152434549-152434550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542686767	chr2:152434571-152434572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559449354	chr2:152434577-152434578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181075746	chr2:152434596-152434597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184976275	chr2:152434613-152434614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564222446	chr2:152434633-152434634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369125377	chr2:152434645-152434646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10167358	chr2:152434692-152434693	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs550107741	chr2:152434693-152434694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4616478	chr2:152434821-152434822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370477835	chr2:152434865-152434866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549074640	chr2:152434866-152434867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146383966	chr2:152434879-152434880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189808361	chr2:152434886-152434887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62174688	chr2:152434910-152434911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112129826	chr2:152434982-152434983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537717247	chr2:152435003-152435004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571600251	chr2:152435018-152435019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557256600	chr2:152435032-152435033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573679607	chr2:152435090-152435091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200496403	chr2:152435100-152435101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553041442	chr2:152435133-152435134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536782479	chr2:152435160-152435161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545176211	chr2:152435189-152435190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567668986	chr2:152435191-152435192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564265023	chr2:152435192-152435193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371963286	chr2:152435207-152435208	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71415143	chr2:152435209-152435210	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71415144	chr2:152435211-152435212	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71415145	chr2:152435237-152435238	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532996835	chr2:152435247-152435248	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71415146	chr2:152435257-152435258	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543712234	chr2:152435304-152435305	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148580196	chr2:152435356-152435357	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528876396	chr2:152435381-152435382	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549037740	chr2:152435382-152435383	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565633504	chr2:152435396-152435397	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528149253	chr2:152435403-152435404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117405908	chr2:152435418-152435419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556314125	chr2:152435448-152435449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152409400-152437000	Weak transcription	Psoas Muscle	Psoas
2	chr2:152416200-152434400	Strong transcription	Fetal Muscle Leg	muscle
3	chr2:152434000-152434800	Strong transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:152434000-152466200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:152434200-152434800	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:152434200-152448200	Weak transcription	HSMMtube	muscle
7	chr2:152434400-152435200	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:152434800-152447600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:152434800-152448200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:152435200-152435400	Enhancers	Spleen	Spleen
11	chr2:152435200-152435600	Strong transcription	Fetal Muscle Leg	muscle
12	chr2:152435600-152465400	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:152447600-152448800	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:152448200-152448400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:152448200-152448600	Enhancers	Liver	Liver
16	chr2:152448200-152448800	Strong transcription	HSMMtube	muscle
17	chr2:152448400-152448800	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:152448800-152460200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:152448800-152466000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:152448800-152466200	Weak transcription	HSMMtube	muscle
21	chr2:152460200-152463800	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:152460600-152489200	Weak transcription	Psoas Muscle	Psoas
23	chr2:152463800-152464000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:152464000-152466200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:152465400-152478200	Strong transcription	Fetal Muscle Leg	muscle
26	chr2:152465400-152491400	Weak transcription	Primary B cells from cord blood	blood
27	chr2:152465600-152466600	Enhancers	Liver	Liver
28	chr2:152466000-152467200	Genic enhancers	Skeletal Muscle Male	skeletal muscle

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