Variant report

Variant	nsv897466
Chromosome Location	chr11:48941067-49003921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:587)
CpG islands
(count:673)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:587 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:48956270-48956471	K562	blood:	n/a	n/a
2	BACH1	chr11:48961635-48962346	K562	blood:	n/a	n/a
3	BATF	chr11:48985042-48985405	GM12878	blood:	n/a	n/a
4	BATF	chr11:48976068-48976336	GM12878	blood:	n/a	n/a
5	BATF	chr11:48945011-48945390	GM12878	blood:	n/a	n/a
6	BATF	chr11:48955305-48955628	GM12878	blood:	n/a	n/a
7	BATF	chr11:48945095-48945310	GM12878	blood:	n/a	n/a
8	BATF	chr11:48953209-48953631	GM12878	blood:	n/a	n/a
9	BATF	chr11:48943793-48944288	GM12878	blood:	n/a	n/a
10	BATF	chr11:48946780-48947152	GM12878	blood:	n/a	n/a
11	BATF	chr11:48953227-48953611	GM12878	blood:	n/a	n/a
12	BATF	chr11:48985116-48985352	GM12878	blood:	n/a	n/a
13	BATF	chr11:48946385-48946719	GM12878	blood:	n/a	n/a
14	BATF	chr11:48976038-48976262	GM12878	blood:	n/a	n/a
15	BCL11A	chr11:48945083-48945411	GM12878	blood:	n/a	n/a
16	BCL11A	chr11:48955295-48955655	GM12878	blood:	n/a	n/a
17	BCL11A	chr11:48953233-48953595	GM12878	blood:	n/a	n/a
18	BCL11A	chr11:48976050-48976264	GM12878	blood:	n/a	n/a
19	BCL11A	chr11:48943783-48944180	GM12878	blood:	n/a	n/a
20	BCL11A	chr11:48945083-48945369	GM12878	blood:	n/a	n/a
21	BCL11A	chr11:48955311-48955544	GM12878	blood:	n/a	n/a
22	BCL11A	chr11:48953316-48953636	GM12878	blood:	n/a	n/a
23	BCL11A	chr11:48946416-48947156	GM12878	blood:	n/a	n/a
24	BCL3	chr11:48990838-48991105	GM12878	blood:	n/a	n/a
25	BHLHE40	chr11:48958418-48958674	HepG2	liver:	n/a	n/a
26	BHLHE40	chr11:48948266-48948511	HepG2	liver:	n/a	n/a
27	BHLHE40	chr11:48953193-48953630	HepG2	liver:	n/a	n/a
28	BRCA1	chr11:48960588-48960655	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr11:48956098-48956483	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr11:48942120-48942457	GM12878	blood:	n/a	n/a
31	BRCA1	chr11:48956269-48956471	GM12878	blood:	n/a	n/a
32	CEBPB	chr11:48994051-48994082	HepG2	liver:	n/a	n/a
33	CEBPB	chr11:48960415-48960521	K562	blood:	n/a	n/a
34	CEBPB	chr11:48956269-48956469	K562	blood:	n/a	n/a
35	CEBPD	chr11:48953317-48953723	K562	blood:	n/a	n/a
36	CHD1	chr11:48953549-48953581	GM12878	blood:	n/a	n/a
37	CHD2	chr11:48958911-48958925	GM12878	blood:	n/a	n/a
38	CHD2	chr11:48959212-48959412	K562	blood:	n/a	n/a
39	CHD2	chr11:48956269-48956470	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr11:48982255-48982371	GM10266	blood:	n/a	n/a
41	CTCF	chr11:48953254-48953804	K562	blood:	n/a	n/a
42	CTCF	chr11:49001907-49001963	LNCaP	prostate:	n/a	n/a
43	CTCF	chr11:48943841-48944139	K562	blood:	n/a	n/a
44	CTCF	chr11:48961499-48961663	K562	blood:	n/a	n/a
45	CTCF	chr11:48966784-48966963	LNCaP	prostate:	n/a	n/a
46	CTCF	chr11:48973716-48973764	Pancreas_OC	pancreas:	n/a	n/a
47	CTCF	chr11:48946801-48947146	K562	blood:	n/a	n/a
48	CTCF	chr11:48995522-48995576	GM20000	blood:	n/a	n/a
49	CTCF	chr11:48946379-48946690	K562	blood:	n/a	n/a
50	CTCF	chr11:48982340-48982500	Spleen_OC	spleen:	n/a	n/a

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48989769-48989819	RPTEC	kidney:	n/a
2	chr11:48987265-48987315	HCM	heart:	n/a
3	chr11:48989769-48989819	RPTEC	kidney:	n/a
4	chr11:48987265-48987315	HCM	heart:	n/a
5	chr11:48990484-48990534	AG10803	skin:	n/a
6	chr11:48990330-48990380	Hepatocyte	liver:	n/a
7	chr11:48977527-48977577	Hepatocyte	liver:	n/a
8	chr11:48987265-48987315	T-47D	breast:	n/a
9	chr11:48990484-48990534	SKMC	muscle:	n/a
10	chr11:48994113-48994163	HepG2	liver:	n/a
11	chr11:48990330-48990380	HMEC	breast:	n/a
12	chr11:48994113-48994163	NB4	blood:	n/a
13	chr11:48990211-48990261	NT2-D1	testis:	n/a
14	chr11:48977834-48977884	BJ	skin:	n/a
15	chr11:49003361-49003411	BJ	skin:	n/a
16	chr11:48977834-48977884	GM12891	blood:	n/a
17	chr11:48977527-48977577	HPAEpiC	pulmonary alveolar:	n/a
18	chr11:48994113-48994163	HNPCEpiC	eye:	n/a
19	chr11:48990484-48990534	NB4	blood:	n/a
20	chr11:48990330-48990380	AoSMC	blood vessel:	n/a
21	chr11:48977834-48977884	NB4	blood:	n/a
22	chr11:48987265-48987315	HRPEpiC	eye:	n/a
23	chr11:48987265-48987315	ProgFib	skin:	n/a
24	chr11:48994113-48994163	A549	lung:	n/a
25	chr11:49003527-49003577	NHBE	bronchial:	n/a
26	chr11:48990330-48990380	HIPEpiC	eye:	n/a
27	chr11:48990330-48990380	HEEpiC	esophagus:	n/a
28	chr11:48977527-48977577	HCF	heart:	n/a
29	chr11:48991619-48991669	HEEpiC	esophagus:	n/a
30	chr11:48989769-48989819	HAEpiC	amniotic membrane:	n/a
31	chr11:48989769-48989819	AoSMC	blood vessel:	n/a
32	chr11:48987265-48987315	SK-N-SH	brain:	n/a
33	chr11:48994113-48994163	SKMC	muscle:	n/a
34	chr11:48977834-48977884	HCPEpiC	choroid plexus:	n/a
35	chr11:48977834-48977884	U87	brain:	n/a
36	chr11:48994113-48994163	H1-hESC	embryonic stem cell:	embryo
37	chr11:49003361-49003411	NB4	blood:	n/a
38	chr11:49003361-49003411	HCM	heart:	n/a
39	chr11:48994113-48994163	SAEC	small airway:	n/a
40	chr11:48994113-48994163	NHBE	bronchial:	n/a
41	chr11:49003361-49003411	NH-A	brain:	n/a
42	chr11:48977834-48977884	NHBE	bronchial:	n/a
43	chr11:49003361-49003411	Jurkat	blood:	n/a
44	chr11:48991619-48991669	LNCaP	prostate:	n/a
45	chr11:48991619-48991669	PFSK-1	brain:	n/a
46	chr11:48994113-48994163	HCPEpiC	choroid plexus:	n/a
47	chr11:49003361-49003411	HCT-116	colon:	n/a
48	chr11:48990484-48990534	HAEpiC	amniotic membrane:	n/a
49	chr11:49003361-49003411	GM06990	blood:	n/a
50	chr11:48991619-48991669	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:121484902..121485419-chr11:48946286..48946806,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC084851.1-2	chr11:48981480-48981636	NONHSAT021303
2	lnc-AC084851.1-2	chr11:48982485-48982577	NONHSAT021303
3	lnc-AC084851.1-2	chr11:48983254-48983362	NONHSAT021303
4	lnc-AC084851.1-2	chr11:48981775-48981855	NONHSAT021303

No data

Variant related genes	Relation type
ENSG00000254517	TF binding region
TRIM51CP	TF binding region
TRIM51GP	TF binding region
ENSG00000254517	CpG island
TRIM51CP	CpG island
TRIM51GP	CpG island

Extended variants
information (count: 2984 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:2984 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111307954	chr11:48941067-48941068	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560945489	chr11:48941071-48941072	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2865640	chr11:48941089-48941090	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562058993	chr11:48941098-48941099	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2865641	chr11:48941099-48941100	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs202198301	chr11:48941126-48941127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11827498	chr11:48941136-48941137	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187284595	chr11:48941205-48941206	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542500185	chr11:48941217-48941218	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533386304	chr11:48941227-48941228	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200349534	chr11:48941242-48941243	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117579342	chr11:48941254-48941255	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77223459	chr11:48941274-48941275	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535706242	chr11:48941286-48941287	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554992379	chr11:48941289-48941290	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565327659	chr11:48941292-48941293	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373437484	chr11:48941337-48941338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112131479	chr11:48941339-48941340	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2865642	chr11:48941342-48941343	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577633116	chr11:48941345-48941346	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543260148	chr11:48941352-48941353	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557070250	chr11:48941366-48941367	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199764558	chr11:48941367-48941368	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200505592	chr11:48941369-48941370	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373312367	chr11:48941398-48941399	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574028925	chr11:48941404-48941405	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201381549	chr11:48941413-48941414	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542931476	chr11:48941417-48941418	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562097256	chr11:48941423-48941424	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527662031	chr11:48941444-48941445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541390759	chr11:48941445-48941446	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199720335	chr11:48941446-48941447	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145137223	chr11:48941448-48941449	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200813642	chr11:48941453-48941454	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370951401	chr11:48941468-48941469	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190525559	chr11:48941484-48941485	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200428615	chr11:48941506-48941507	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570229907	chr11:48941509-48941510	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113472731	chr11:48941531-48941532	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529585379	chr11:48941547-48941548	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77923440	chr11:48941548-48941549	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565366062	chr11:48941558-48941559	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79910300	chr11:48941568-48941569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113806282	chr11:48941576-48941577	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76565554	chr11:48941577-48941578	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201987329	chr11:48941586-48941587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376074700	chr11:48941591-48941592	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200161896	chr11:48941592-48941593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61898213	chr11:48941601-48941602	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551315370	chr11:48941608-48941609	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48935200-48947600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr11:48935600-48943800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:48935800-48942400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr11:48936400-48949200	Weak transcription	K562	blood
5	chr11:48938000-48949200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr11:48943200-48944000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr11:48947600-48948400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:48947600-48948400	ZNF genes & repeats	HUVEC	blood vessel
9	chr11:48949000-48949200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr11:48953000-48954400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:48953000-48959800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr11:48953200-48959800	Weak transcription	K562	blood
13	chr11:48955000-48959000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr11:48955200-48955600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:48956200-48963400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr11:48956600-48964400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:48957400-48958800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:48957800-48958400	ZNF genes & repeats	HUVEC	blood vessel
19	chr11:48957800-48959000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:48958000-48958200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
21	chr11:48958000-48958400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr11:48958400-48959000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:48959000-48960200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:48959200-48959600	ZNF genes & repeats	HUVEC	blood vessel
25	chr11:48959400-48960400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr11:48961600-48962000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr11:48966800-48967600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links