Variant report

Variant	nsv521810
Chromosome Location	chr11:87034696-87037680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr11:87036064-87037325	SK-N-SH	brain:	n/a	chr11:87037124-87037138
2	FOXA1	chr11:87035941-87036186	T-47D	breast:	n/a	n/a
3	FOXA1	chr11:87035864-87036227	T-47D	breast:	n/a	n/a
4	GATA2	chr11:87036442-87037476	SH-SY5Y	brain:	n/a	n/a
5	GATA3	chr11:87036581-87036923	T-47D	breast:	n/a	n/a
6	GATA3	chr11:87036476-87036879	T-47D	breast:	n/a	n/a
7	GATA3	chr11:87036454-87037218	SH-SY5Y	brain:	n/a	n/a
8	MAFF	chr11:87037664-87038008	HepG2	liver:	n/a	n/a
9	MAFK	chr11:87037652-87038017	HepG2	liver:	n/a	chr11:87037832-87037841
10	MAFK	chr11:87037676-87038000	K562	blood:	n/a	chr11:87037832-87037841
11	MAFK	chr11:87037673-87037998	IMR90	lung:	n/a	chr11:87037832-87037841
12	POLR2A	chr11:87035001-87035025	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:87035892-87046208	K562	blood:	n/a	n/a
14	POLR2A	chr11:87037525-87037614	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:87034774-87034974	MCF10A-Er-Src	breast:	n/a	n/a
16	SPI1	chr11:87036204-87036444	GM12891	blood:	n/a	n/a
17	STAT3	chr11:87034573-87034745	MCF10A-Er-Src	breast:	n/a	n/a
18	ZC3H11A	chr11:87034735-87034756	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:87035156-87035206	HL-60	blood:	n/a
2	chr11:87035156-87035206	HRCEpiC	kidney:	n/a
3	chr11:87035156-87035206	CMK	blood:	n/a
4	chr11:87035156-87035206	PANC-1	pancreas:	n/a
5	chr11:87035156-87035206	HRE	kidney:	n/a
6	chr11:87035156-87035206	NHBE	bronchial:	n/a
7	chr11:87035156-87035206	HEEpiC	esophagus:	n/a
8	chr11:87035156-87035206	GM12892	blood:	n/a
9	chr11:87035156-87035206	HCPEpiC	choroid plexus:	n/a
10	chr11:87035156-87035206	PFSK-1	brain:	n/a
11	chr11:87035156-87035206	A549	lung:	n/a
12	chr11:87035156-87035206	AG10803	skin:	n/a
13	chr11:87035156-87035206	U87	brain:	n/a
14	chr11:87035156-87035206	IMR90	lung:	fetal
15	chr11:87035156-87035206	ProgFib	skin:	n/a
16	chr11:87035156-87035206	Caco-2	colon:	n/a
17	chr11:87035156-87035206	HAEpiC	amniotic membrane:	n/a
18	chr11:87035156-87035206	AG04450	lung:	fetal
19	chr11:87035156-87035206	HMEC	breast:	n/a
20	chr11:87035156-87035206	AoSMC	blood vessel:	n/a
21	chr11:87035156-87035206	PrEC	prostate:	n/a
22	chr11:87035156-87035206	HCF	heart:	n/a
23	chr11:87035156-87035206	NT2-D1	testis:	n/a
24	chr11:87035156-87035206	GM19239	blood:	n/a
25	chr11:87035156-87035206	GM06990	blood:	n/a
26	chr11:87035156-87035206	HRPEpiC	eye:	n/a
27	chr11:87035156-87035206	SK-N-MC	brain:	n/a
28	chr11:87035156-87035206	HUVEC	blood vessel:	n/a
29	chr11:87035156-87035206	HCT-116	colon:	n/a
30	chr11:87035156-87035206	HEK293	kidney:	embryo
31	chr11:87035156-87035206	AG04449	skin:	fetal
32	chr11:87035156-87035206	HPAEpiC	pulmonary alveolar:	n/a
33	chr11:87035156-87035206	Jurkat	blood:	n/a
34	chr11:87035156-87035206	SK-N-SH	brain:	n/a
35	chr11:87035156-87035206	HepG2	liver:	n/a
36	chr11:87035156-87035206	SK-N-SH_RA	brain:	n/a
37	chr11:87035156-87035206	GM12878	blood:	n/a
38	chr11:87035156-87035206	SAEC	small airway:	n/a
39	chr11:87035156-87035206	K562	blood:	n/a
40	chr11:87035156-87035206	AG09319	gingival:	n/a
41	chr11:87035156-87035206	NB4	blood:	n/a
42	chr11:87035156-87035206	Hela-S3	cervix:	n/a
43	chr11:87035156-87035206	BE2_C	brain:	n/a
44	chr11:87035156-87035206	Hepatocyte	liver:	n/a
45	chr11:87035156-87035206	HNPCEpiC	eye:	n/a
46	chr11:87035156-87035206	LNCaP	prostate:	n/a
47	chr11:87035156-87035206	NHDF-neo	bronchial:	n/a
48	chr11:87035156-87035206	ovcar-3	ovarian:	n/a
49	chr11:87035156-87035206	HIPEpiC	eye:	n/a
50	chr11:87035156-87035206	MCF10A-Er-Src	breast:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:87033511..87035138-chr11:87075448..87077879,2	K562	blood:
2	chr11:87033324..87035687-chr11:87036494..87038979,2	K562	blood:
3	chr11:87028128..87030970-chr11:87034928..87037460,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FZD4-9	chr11:87034751-87035401	NONHSAT023518

No data

Variant related genes	Relation type
ENSG00000270510	TF binding region
ENSG00000270510	CpG island
ENSG00000166575	chromatin interactions
ENSG00000270510	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2212616	chr11:87034696-87034697	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544549524	chr11:87034730-87034731	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368714151	chr11:87034735-87034736	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145528412	chr11:87034770-87034771	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs545886033	chr11:87034794-87034795	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs193232367	chr11:87034823-87034824	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs528159593	chr11:87034829-87034830	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs185305615	chr11:87034844-87034845	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs561321152	chr11:87034856-87034857	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs74542118	chr11:87034880-87034881	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs190301130	chr11:87034960-87034961	Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs539955852	chr11:87034995-87034996	Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs374254506	chr11:87035022-87035023	Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs192846979	chr11:87035061-87035062	Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs74933096	chr11:87035116-87035117	Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs373482704	chr11:87035157-87035158	Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs147730741	chr11:87035174-87035175	Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs117848575	chr11:87035192-87035193	Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs4636701	chr11:87035210-87035211	Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113976566	chr11:87035218-87035219	Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs142628212	chr11:87035222-87035223	Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs538539674	chr11:87035235-87035236	Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs558120403	chr11:87035275-87035276	Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs369650318	chr11:87035283-87035284	Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs184185340	chr11:87035311-87035312	Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs142434402	chr11:87035334-87035335	Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs75326447	chr11:87035335-87035336	Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs572624115	chr11:87035419-87035420	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs112021061	chr11:87035458-87035459	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs76614749	chr11:87035474-87035475	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs377704171	chr11:87035482-87035483	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188512938	chr11:87035523-87035524	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs550544350	chr11:87035598-87035599	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564267567	chr11:87035602-87035603	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371307326	chr11:87035611-87035612	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs546507876	chr11:87035628-87035629	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs538929945	chr11:87035647-87035648	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529424437	chr11:87035652-87035653	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs637734	chr11:87035660-87035661	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs181014749	chr11:87035693-87035694	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549459759	chr11:87035722-87035723	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547336780	chr11:87035744-87035745	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185292733	chr11:87035770-87035771	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537900012	chr11:87035806-87035807	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs2847353	chr11:87035828-87035829	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs558116778	chr11:87035866-87035867	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs571874773	chr11:87035934-87035935	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs77844837	chr11:87035958-87035959	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs79534416	chr11:87035959-87035960	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs573853200	chr11:87036003-87036004	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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	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
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	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
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87010200-87037200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:87010600-87036800	Weak transcription	Psoas Muscle	Psoas
3	chr11:87011800-87036800	Weak transcription	Primary B cells from cord blood	blood
4	chr11:87012000-87040400	Weak transcription	Fetal Intestine Small	intestine
5	chr11:87012600-87036000	Weak transcription	Fetal Muscle Leg	muscle
6	chr11:87012600-87036400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:87012800-87044200	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:87014400-87047400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:87015600-87039800	Weak transcription	Fetal Stomach	stomach
10	chr11:87015800-87040800	Weak transcription	Left Ventricle	heart
11	chr11:87016400-87034800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:87017800-87035000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:87018000-87039800	Weak transcription	Ovary	ovary
14	chr11:87018000-87040000	Weak transcription	Aorta	Aorta
15	chr11:87018000-87042800	Weak transcription	Lung	lung
16	chr11:87018200-87040800	Weak transcription	Small Intestine	intestine
17	chr11:87019800-87038000	Weak transcription	A549	lung
18	chr11:87020800-87039800	Weak transcription	HMEC	breast
19	chr11:87021600-87042400	Weak transcription	HSMMtube	muscle
20	chr11:87022000-87040600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:87024600-87034800	Weak transcription	NH-A	brain
22	chr11:87025200-87039600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:87025400-87040800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr11:87026400-87041000	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:87027200-87036200	Weak transcription	GM12878-XiMat	blood
26	chr11:87027600-87043800	Weak transcription	Fetal Kidney	kidney
27	chr11:87028200-87041000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr11:87028400-87040000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:87029000-87035000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:87029000-87035000	Strong transcription	Liver	Liver
31	chr11:87029400-87037600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:87029400-87037800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:87029600-87034800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:87030400-87040200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:87031400-87039400	Weak transcription	Esophagus	oesophagus
36	chr11:87032400-87036400	Weak transcription	Fetal Brain Male	brain
37	chr11:87032600-87038400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:87032800-87036800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:87033000-87038800	Weak transcription	Fetal Intestine Large	intestine
40	chr11:87033000-87040400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:87033200-87034800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr11:87033200-87034800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr11:87033200-87034800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr11:87033200-87036800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:87033200-87037000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:87033200-87038800	Weak transcription	K562	blood
47	chr11:87033200-87038800	Weak transcription	NHDF-Ad	bronchial
48	chr11:87033200-87039000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:87033200-87039800	Weak transcription	HUVEC	blood vessel
50	chr11:87033200-87041400	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links