Variant report

Variant	nsv898045
Chromosome Location	chr11:85094601-85168570
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:85120087-85120185	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:85096716-85096950	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr11:85119999-85120273	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr11:85119965-85120422	HCT-116	colon:	n/a	n/a
5	CEBPB	chr11:85119968-85120418	HCT-116	colon:	n/a	n/a
6	CTCF	chr11:85145727-85145760	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr11:85137092-85137099	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr11:85108588-85108633	GM13977	blood:	n/a	n/a
9	CTCF	chr11:85115040-85115190	Caco-2	colon:	n/a	n/a
10	CTCF	chr11:85129077-85129163	GM20000	blood:	n/a	n/a
11	E2F4	chr11:85164253-85164271	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F4	chr11:85135749-85135768	MCF10A-Er-Src	breast:	n/a	n/a
13	FAM48A	chr11:85160317-85160403	GM12878	blood:	n/a	n/a
14	FOSL2	chr11:85106582-85106879	HepG2	liver:	n/a	n/a
15	FOXA1	chr11:85106594-85107034	HepG2	liver:	n/a	n/a
16	FOXA1	chr11:85131640-85131899	HepG2	liver:	n/a	n/a
17	FOXA1	chr11:85106589-85106892	HepG2	liver:	n/a	n/a
18	FOXA1	chr11:85106638-85106942	HepG2	liver:	n/a	n/a
19	FOXA1	chr11:85106489-85106940	HepG2	liver:	n/a	n/a
20	FOXA2	chr11:85106607-85106865	HepG2	liver:	n/a	n/a
21	FOXA2	chr11:85136981-85137291	A549	lung:	n/a	n/a
22	FOXA2	chr11:85106652-85107012	A549	lung:	n/a	n/a
23	FOXA2	chr11:85106565-85107058	A549	lung:	n/a	n/a
24	GATA3	chr11:85118504-85118565	SH-SY5Y	brain:	n/a	n/a
25	IRF3	chr11:85154450-85154451	GM12878	blood:	n/a	n/a
26	JUND	chr11:85153377-85153620	HepG2	liver:	n/a	chr11:85153509-85153520
27	MAX	chr11:85165067-85165071	NB4	blood:	n/a	n/a
28	MYC	chr11:85116612-85116688	MCF10A-Er-Src	breast:	n/a	n/a
29	MYC	chr11:85161402-85161403	MCF10A-Er-Src	breast:	n/a	n/a
30	NFYB	chr11:85149651-85149782	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr11:85152014-85152020	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr11:85142434-85142440	MCF-7	breast:	n/a	n/a
33	POLR2A	chr11:85149784-85149807	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:85168165-85168234	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:85142400-85142408	MCF-7	breast:	n/a	n/a
36	POLR2A	chr11:85106643-85106691	MCF-7	breast:	n/a	n/a
37	POLR2A	chr11:85142597-85142652	MCF-7	breast:	n/a	n/a
38	POLR2A	chr11:85150431-85150524	MCF-7	breast:	n/a	n/a
39	POLR2A	chr11:85152024-85152035	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:85122496-85122859	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr11:85142460-85142494	MCF-7	breast:	n/a	n/a
42	POLR2A	chr11:85142411-85142433	MCF-7	breast:	n/a	n/a
43	POLR2A	chr11:85142326-85142682	MCF-7	breast:	n/a	n/a
44	POLR2A	chr11:85142550-85142589	MCF-7	breast:	n/a	n/a
45	POLR2A	chr11:85142539-85142541	MCF-7	breast:	n/a	n/a
46	REST	chr11:85146209-85146343	H1-hESC	embryonic stem cell:	n/a	n/a
47	SPI1	chr11:85166288-85166656	HL-60	blood:	n/a	n/a
48	SPI1	chr11:85102906-85103069	GM12878	blood:	n/a	n/a
49	SPI1	chr11:85125246-85125621	HL-60	blood:	n/a	n/a
50	SPI1	chr11:85125337-85125477	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85165504..85168134-chr11:85173876..85175824,2	MCF-7	breast:
2	chr11:84911038..84912682-chr11:85158292..85160996,2	MCF-7	breast:
3	chr11:85154543..85156090-chr11:85159990..85161954,2	MCF-7	breast:
4	chr11:85090254..85092325-chr11:85094665..85096325,2	K562	blood:
5	chr11:85113435..85115119-chr20:58514869..58516491,2	MCF-7	breast:
6	chr11:85154543..85156090-chr11:85159990..85161954,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CREBZF-2	chr11:85163326-85164742	NONHSAT023434

No data

Variant related genes	Relation type
ENSG00000254897	TF binding region
ENSG00000196227	chromatin interactions
ENSG00000132825	chromatin interactions

Extended variants
information (count: 1835 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1835 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573768565	chr11:85095411-85095412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535653006	chr11:85095426-85095427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557230747	chr11:85095438-85095439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544265519	chr11:85095495-85095496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575475579	chr11:85095504-85095505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562244906	chr11:85095514-85095515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138030658	chr11:85095621-85095622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149519870	chr11:85095635-85095636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188415548	chr11:85095657-85095658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539388585	chr11:85095666-85095667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs36027663	chr11:85095739-85095740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528762900	chr11:85095747-85095748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547014714	chr11:85095755-85095756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181845848	chr11:85095813-85095814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs58311538	chr11:85095815-85095816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144122305	chr11:85095823-85095824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111845788	chr11:85095868-85095869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569383283	chr11:85095874-85095875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572773814	chr11:85095895-85095896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190676913	chr11:85095950-85095951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148697205	chr11:85095965-85095966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566905798	chr11:85095990-85095991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534058225	chr11:85096004-85096005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181482181	chr11:85096005-85096006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573731272	chr11:85096040-85096041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375505104	chr11:85096044-85096045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544083578	chr11:85096116-85096117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555977357	chr11:85096128-85096129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577318136	chr11:85096142-85096143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540277224	chr11:85096187-85096188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187052816	chr11:85096197-85096198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559703975	chr11:85096314-85096315	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs191055802	chr11:85096360-85096361	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs112051519	chr11:85096408-85096409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561458082	chr11:85096414-85096415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573443467	chr11:85096453-85096454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142673769	chr11:85096468-85096469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116582400	chr11:85096505-85096506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147352523	chr11:85096554-85096555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77841577	chr11:85096609-85096610	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs375931638	chr11:85096642-85096643	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs563103135	chr11:85096751-85096752	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs533449980	chr11:85096762-85096763	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs181555073	chr11:85096772-85096773	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs566828787	chr11:85096806-85096807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563566772	chr11:85096844-85096845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185002709	chr11:85096878-85096879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372416254	chr11:85096905-85096906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189905969	chr11:85096907-85096908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567437628	chr11:85096929-85096930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85095400-85096800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:85095600-85096000	Enhancers	Fetal Muscle Leg	muscle
3	chr11:85095800-85096200	Enhancers	HSMMtube	muscle
4	chr11:85096000-85099000	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:85096200-85096400	Flanking Active TSS	HSMMtube	muscle
6	chr11:85096200-85097400	Enhancers	HSMM	muscle
7	chr11:85096200-85097600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr11:85096200-85097600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr11:85096400-85096600	Enhancers	HSMMtube	muscle
10	chr11:85096400-85097800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr11:85096400-85097800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr11:85096600-85096800	Flanking Active TSS	HSMMtube	muscle
13	chr11:85096600-85097000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr11:85096600-85097200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:85096600-85097400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:85096600-85097400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:85096600-85097400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr11:85096800-85097000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:85096800-85097400	Enhancers	HSMMtube	muscle
20	chr11:85099000-85099400	Enhancers	Fetal Muscle Leg	muscle
21	chr11:85105400-85106000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:85105400-85106000	Enhancers	Fetal Brain Female	brain
23	chr11:85105400-85106800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr11:85105800-85106000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:85105800-85106600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:85105800-85107000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr11:85106000-85106200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:85106000-85106400	Weak transcription	Right Atrium	heart
29	chr11:85106400-85106800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr11:85106400-85106800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:85106400-85106800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:85106400-85106800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:85106400-85106800	ZNF genes & repeats	Right Atrium	heart
34	chr11:85106400-85107400	Enhancers	Primary B cells from peripheral blood	blood
35	chr11:85106600-85107200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:85106600-85108000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:85115400-85116200	Enhancers	HSMMtube	muscle
38	chr11:85116200-85118400	Weak transcription	HSMMtube	muscle
39	chr11:85118400-85119000	Enhancers	HSMMtube	muscle
40	chr11:85118600-85119000	Enhancers	Fetal Heart	heart
41	chr11:85118600-85119000	Enhancers	Fetal Muscle Leg	muscle
42	chr11:85118600-85119000	ZNF genes & repeats	Left Ventricle	heart
43	chr11:85119000-85119400	Weak transcription	Left Ventricle	heart
44	chr11:85121600-85122200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:85121800-85122200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:85132200-85132800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
47	chr11:85134200-85135000	Enhancers	Fetal Intestine Large	intestine
48	chr11:85134200-85135000	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr11:85134200-85135200	Enhancers	Fetal Muscle Leg	muscle
50	chr11:85134200-85135200	Enhancers	Rectal Mucosa Donor 31	rectum

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