Variant report

Variant	nsv983086
Chromosome Location	chr11:3599135-3609337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:293)
CpG islands
(count:610)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:293 , 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	chr11:3600937-3601088	K562	blood:	n/a	n/a
2	ATF3	chr11:3600911-3601126	K562	blood:	n/a	n/a
3	BHLHE40	chr11:3600854-3601671	K562	blood:	n/a	n/a
4	BHLHE40	chr11:3602462-3602563	K562	blood:	n/a	n/a
5	BHLHE40	chr11:3602341-3602599	HepG2	liver:	n/a	n/a
6	CBX3	chr11:3602459-3602769	K562	blood:	n/a	n/a
7	CEBPB	chr11:3601006-3601104	K562	blood:	n/a	n/a
8	CEBPB	chr11:3605601-3605791	IMR90	lung:	n/a	n/a
9	CEBPD	chr11:3600933-3601222	K562	blood:	n/a	n/a
10	CTCF	chr11:3602456-3602632	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr11:3602440-3602645	ProgFib	skin:	n/a	n/a
12	CTCF	chr11:3602480-3602630	AoAF	blood vessel:	n/a	n/a
13	CTCF	chr11:3602500-3602650	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr11:3602460-3602610	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr11:3602221-3602933	A549	lung:	n/a	n/a
16	CTCF	chr11:3602500-3602650	GM12864	blood:	n/a	n/a
17	CTCF	chr11:3602480-3602630	GM12875	blood:	n/a	n/a
18	CTCF	chr11:3602540-3602690	HFF-Myc	foreskin:	n/a	n/a
19	CTCF	chr11:3602500-3602650	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr11:3602416-3602704	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr11:3602833-3602878	GM10248	blood:	n/a	n/a
22	CTCF	chr11:3602461-3602653	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr11:3602540-3602690	HCM	heart:	n/a	n/a
24	CTCF	chr11:3602500-3602650	HEK293	kidney:	n/a	n/a
25	CTCF	chr11:3602410-3602701	T-47D	breast:	n/a	n/a
26	CTCF	chr11:3602540-3602690	MCF-7	breast:	n/a	n/a
27	CTCF	chr11:3602444-3602662	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr11:3602500-3602650	SAEC	small airway:	n/a	n/a
29	CTCF	chr11:3602480-3602630	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr11:3602540-3602690	HepG2	liver:	n/a	n/a
31	CTCF	chr11:3602398-3602696	GM12892	blood:	n/a	n/a
32	CTCF	chr11:3602500-3602650	GM12872	blood:	n/a	n/a
33	CTCF	chr11:3602453-3602622	HepG2	liver:	n/a	n/a
34	CTCF	chr11:3602900-3603050	NHLF	lung:	n/a	n/a
35	CTCF	chr11:3602520-3602670	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr11:3602480-3602630	HL-60	blood:	n/a	n/a
37	CTCF	chr11:3602387-3602716	Medullo	brain:	n/a	n/a
38	CTCF	chr11:3602412-3602705	GM12891	blood:	n/a	n/a
39	CTCF	chr11:3602760-3602910	GM12864	blood:	n/a	n/a
40	CTCF	chr11:3602480-3602630	GM12878	blood:	n/a	n/a
41	CTCF	chr11:3602540-3602690	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr11:3602381-3602678	K562	blood:	n/a	n/a
43	CTCF	chr11:3602350-3602742	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr11:3602560-3602710	HCT-116	colon:	n/a	n/a
45	CTCF	chr11:3602500-3602650	GM06990	blood:	n/a	n/a
46	CTCF	chr11:3602394-3602760	LNCaP	prostate:	n/a	n/a
47	CTCF	chr11:3602520-3602670	WI-38	lung:	n/a	n/a
48	CTCF	chr11:3602473-3602674	ECC-1	luminal epithelium:	n/a	n/a
49	CTCF	chr11:3602500-3602650	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr11:3602500-3602650	HRPEpiC	eye:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:3602025-3602075	HCPEpiC	choroid plexus:	n/a
2	chr11:3602584-3602634	BE2_C	brain:	n/a
3	chr11:3602584-3602634	SK-N-SH	brain:	n/a
4	chr11:3602025-3602075	NHBE	bronchial:	n/a
5	chr11:3602025-3602075	AG04449	skin:	fetal
6	chr11:3602131-3602181	BJ	skin:	n/a
7	chr11:3601214-3601264	AoSMC	blood vessel:	n/a
8	chr11:3601214-3601264	ECC-1	luminal epithelium:	n/a
9	chr11:3601214-3601264	U87	brain:	n/a
10	chr11:3602584-3602634	AG04449	skin:	fetal
11	chr11:3601010-3601060	Caco-2	colon:	n/a
12	chr11:3601214-3601264	RPTEC	kidney:	n/a
13	chr11:3602131-3602181	T-47D	breast:	n/a
14	chr11:3601128-3601178	AG09309	skin:	n/a
15	chr11:3601010-3601060	HMEC	breast:	n/a
16	chr11:3601010-3601060	T-47D	breast:	n/a
17	chr11:3601042-3601092	GM06990	blood:	n/a
18	chr11:3601547-3601597	HCPEpiC	choroid plexus:	n/a
19	chr11:3601128-3601178	HNPCEpiC	eye:	n/a
20	chr11:3601010-3601060	HCF	heart:	n/a
21	chr11:3602845-3602895	SAEC	small airway:	n/a
22	chr11:3605970-3606020	SAEC	small airway:	n/a
23	chr11:3601010-3601060	HRPEpiC	eye:	n/a
24	chr11:3602845-3602895	Hepatocyte	liver:	n/a
25	chr11:3601128-3601178	HRCEpiC	kidney:	n/a
26	chr11:3601042-3601092	HIPEpiC	eye:	n/a
27	chr11:3601547-3601597	Caco-2	colon:	n/a
28	chr11:3601214-3601264	CMK	blood:	n/a
29	chr11:3605970-3606020	GM19239	blood:	n/a
30	chr11:3601010-3601060	AG09319	gingival:	n/a
31	chr11:3601042-3601092	U87	brain:	n/a
32	chr11:3601128-3601178	HCF	heart:	n/a
33	chr11:3601128-3601178	HMEC	breast:	n/a
34	chr11:3602584-3602634	ProgFib	skin:	n/a
35	chr11:3602131-3602181	PANC-1	pancreas:	n/a
36	chr11:3602131-3602181	HAEpiC	amniotic membrane:	n/a
37	chr11:3601042-3601092	AG09319	gingival:	n/a
38	chr11:3602131-3602181	AG04450	lung:	fetal
39	chr11:3601128-3601178	GM12891	blood:	n/a
40	chr11:3602584-3602634	MCF10A-Er-Src	breast:	n/a
41	chr11:3602584-3602634	NHDF-neo	bronchial:	n/a
42	chr11:3601042-3601092	NB4	blood:	n/a
43	chr11:3602131-3602181	ECC-1	luminal epithelium:	n/a
44	chr11:3602845-3602895	RPTEC	kidney:	n/a
45	chr11:3602131-3602181	NH-A	brain:	n/a
46	chr11:3605970-3606020	HEEpiC	esophagus:	n/a
47	chr11:3602845-3602895	Jurkat	blood:	n/a
48	chr11:3601042-3601092	AG09309	skin:	n/a
49	chr11:3601547-3601597	HAEpiC	amniotic membrane:	n/a
50	chr11:3602584-3602634	SK-N-MC	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ART5-1	chr11:3602157-3602389	NONHSAT017602
2	lnc-ART5-1	chr11:3602780-3602817	NONHSAT017602

No data

Variant related genes	Relation type
ENSG00000255367	TF binding region
ENSG00000255367	CpG island

Extended variants
information (count: 737 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:737 , 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	rs113271368	chr11:3599152-3599153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527512993	chr11:3599167-3599168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182022404	chr11:3599214-3599215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376075146	chr11:3599244-3599245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547188089	chr11:3599260-3599261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186209199	chr11:3599264-3599265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184970135	chr11:3599273-3599274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11028214	chr11:3599326-3599327	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs180900620	chr11:3599339-3599340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200312925	chr11:3599365-3599366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61879915	chr11:3599366-3599367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185837746	chr11:3599381-3599382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535907414	chr11:3599396-3599397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113471278	chr11:3599397-3599398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371245480	chr11:3599401-3599402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201150368	chr11:3599426-3599427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560677701	chr11:3599450-3599451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527770324	chr11:3599480-3599481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191477769	chr11:3599488-3599489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11028215	chr11:3599539-3599540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531705367	chr11:3599555-3599556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550906780	chr11:3599564-3599565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142069136	chr11:3599573-3599574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61879916	chr11:3599580-3599581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538239081	chr11:3599581-3599582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61879917	chr11:3599584-3599585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181202713	chr11:3599588-3599589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551584899	chr11:3599605-3599606	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs559229547	chr11:3599620-3599621	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs369869670	chr11:3599635-3599636	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs151135470	chr11:3599648-3599649	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs113848801	chr11:3599668-3599669	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs555403822	chr11:3599669-3599670	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs113660552	chr11:3599683-3599684	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs112472397	chr11:3599686-3599687	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs186199457	chr11:3599691-3599692	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs190627558	chr11:3599692-3599693	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs150312696	chr11:3599693-3599694	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs577906295	chr11:3599714-3599715	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs199521410	chr11:3599715-3599716	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs555159283	chr11:3599789-3599790	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs560500423	chr11:3599813-3599814	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs376358287	chr11:3599862-3599863	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs572571571	chr11:3599884-3599885	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs9736989	chr11:3599909-3599910	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs561395785	chr11:3599913-3599914	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs531743954	chr11:3599916-3599917	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs9737187	chr11:3599956-3599957	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs72482749	chr11:3599968-3599969	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs562813473	chr11:3599981-3599982	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
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
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3595400-3602000	Weak transcription	Right Atrium	heart
2	chr11:3597600-3599600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:3597600-3601000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:3597800-3600400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:3598000-3600800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:3598000-3601000	Weak transcription	Fetal Intestine Small	intestine
7	chr11:3598000-3601200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:3598200-3601000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:3599200-3599400	Enhancers	HSMM	muscle
10	chr11:3599600-3601000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:3599800-3600800	Weak transcription	Fetal Intestine Large	intestine
12	chr11:3600200-3600400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr11:3600400-3600800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr11:3600800-3601000	Enhancers	Fetal Intestine Large	intestine
15	chr11:3600800-3601400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
16	chr11:3600800-3601400	Enhancers	K562	blood
17	chr11:3600800-3602800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:3601000-3601200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
19	chr11:3601000-3601200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
20	chr11:3601000-3601200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:3601000-3601200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
22	chr11:3601000-3601400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr11:3601000-3601400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:3601000-3601400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:3601000-3601400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr11:3601000-3601400	Flanking Active TSS	Fetal Intestine Large	intestine
27	chr11:3601000-3601600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:3601000-3601600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:3601000-3602600	Active TSS	Duodenum Mucosa	Duodenum
30	chr11:3601200-3601400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
31	chr11:3601200-3601400	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
32	chr11:3601200-3601400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
33	chr11:3601200-3601400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
34	chr11:3601200-3601400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
35	chr11:3601200-3601400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:3601200-3601400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:3601200-3601400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
38	chr11:3601200-3601400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr11:3601200-3601400	Enhancers	Stomach Mucosa	stomach
40	chr11:3601200-3602400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr11:3601200-3602600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr11:3601400-3601600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
43	chr11:3601400-3601600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
44	chr11:3601400-3601600	Bivalent/Poised TSS	Fetal Lung	lung
45	chr11:3601400-3601800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr11:3601400-3601800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:3601400-3601800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr11:3601400-3601800	Bivalent Enhancer	Placenta	Placenta
49	chr11:3601400-3602000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:3601400-3602000	Weak transcription	K562	blood

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