Variant report

Variant	nsv975323
Chromosome Location	chr11:15249916-15262360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr11:15256430-15256698	SH-SY5Y	brain:	n/a	chr11:15256536-15256552
2	JUN	chr11:15262239-15262315	HepG2	liver:	n/a	chr11:15262257-15262270
3	JUND	chr11:15256656-15256662	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAFF	chr11:15256547-15256620	HepG2	liver:	n/a	chr11:15256576-15256594
5	MAFK	chr11:15256525-15256733	HepG2	liver:	n/a	chr11:15256588-15256603 chr11:15256572-15256592
6	MAFK	chr11:15256491-15256624	IMR90	lung:	n/a	chr11:15256588-15256603 chr11:15256572-15256592
7	MAFK	chr11:15256548-15256716	HepG2	liver:	n/a	chr11:15256588-15256603 chr11:15256572-15256592
8	POLR2A	chr11:15251271-15251284	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr11:15260612-15260616	MCF-7	breast:	n/a	n/a
10	POLR2A	chr11:15260578-15260580	MCF-7	breast:	n/a	n/a
11	STAT3	chr11:15252284-15252347	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:15258312-15258362	HRPEpiC	eye:	n/a
2	chr11:15258312-15258362	GM12891	blood:	n/a
3	chr11:15258312-15258362	HNPCEpiC	eye:	n/a
4	chr11:15258312-15258362	HIPEpiC	eye:	n/a
5	chr11:15258312-15258362	AG10803	skin:	n/a
6	chr11:15258312-15258362	SK-N-MC	brain:	n/a
7	chr11:15258312-15258362	GM06990	blood:	n/a
8	chr11:15258312-15258362	HCT-116	colon:	n/a
9	chr11:15258312-15258362	HRCEpiC	kidney:	n/a
10	chr11:15258312-15258362	HEEpiC	esophagus:	n/a
11	chr11:15258312-15258362	ovcar-3	ovarian:	n/a
12	chr11:15258312-15258362	MCF-7	breast:	n/a
13	chr11:15258312-15258362	SAEC	small airway:	n/a
14	chr11:15258312-15258362	HL-60	blood:	n/a
15	chr11:15258312-15258362	HAEpiC	amniotic membrane:	n/a
16	chr11:15258312-15258362	HCPEpiC	choroid plexus:	n/a
17	chr11:15258312-15258362	NT2-D1	testis:	n/a
18	chr11:15258312-15258362	HEK293	kidney:	embryo
19	chr11:15258312-15258362	HCF	heart:	n/a
20	chr11:15258312-15258362	LNCaP	prostate:	n/a
21	chr11:15258312-15258362	Caco-2	colon:	n/a
22	chr11:15258312-15258362	AG04449	skin:	fetal
23	chr11:15258312-15258362	AG09319	gingival:	n/a
24	chr11:15258312-15258362	GM19239	blood:	n/a
25	chr11:15258312-15258362	ECC-1	luminal epithelium:	n/a
26	chr11:15258312-15258362	NHDF-neo	bronchial:	n/a
27	chr11:15258312-15258362	U87	brain:	n/a
28	chr11:15258312-15258362	NB4	blood:	n/a
29	chr11:15258312-15258362	AoSMC	blood vessel:	n/a
30	chr11:15258312-15258362	SK-N-SH	brain:	n/a
31	chr11:15258312-15258362	PANC-1	pancreas:	n/a
32	chr11:15258312-15258362	HPAEpiC	pulmonary alveolar:	n/a
33	chr11:15258312-15258362	ProgFib	skin:	n/a
34	chr11:15258312-15258362	GM12892	blood:	n/a
35	chr11:15258312-15258362	AG09309	skin:	n/a
36	chr11:15258312-15258362	Hela-S3	cervix:	n/a
37	chr11:15258312-15258362	H1-hESC	embryonic stem cell:	embryo
38	chr11:15258312-15258362	K562	blood:	n/a
39	chr11:15258312-15258362	IMR90	lung:	fetal
40	chr11:15258312-15258362	GM12878	blood:	n/a
41	chr11:15258312-15258362	RPTEC	kidney:	n/a
42	chr11:15258312-15258362	A549	lung:	n/a
43	chr11:15258312-15258362	SKMC	muscle:	n/a
44	chr11:15258312-15258362	MCF10A-Er-Src	breast:	n/a
45	chr11:15258312-15258362	HRE	kidney:	n/a
46	chr11:15258312-15258362	HCM	heart:	n/a
47	chr11:15258312-15258362	HepG2	liver:	n/a
48	chr11:15258312-15258362	BE2_C	brain:	n/a
49	chr11:15258312-15258362	HMEC	breast:	n/a
50	chr11:15258312-15258362	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:15262063..15264369-chr11:15524628..15526995,2	K562	blood:

No data

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

Extended variants
information (count: 556 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:556 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150260260	chr11:15249918-15249919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73426581	chr11:15249935-15249936	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs1792564	chr11:15249965-15249966	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537906448	chr11:15249966-15249967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77897842	chr11:15249996-15249997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1792565	chr11:15250018-15250019	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs574964856	chr11:15250101-15250102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568546478	chr11:15250104-15250105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536186114	chr11:15250109-15250110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554167269	chr11:15250156-15250157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572654079	chr11:15250209-15250210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535212712	chr11:15250240-15250241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371103016	chr11:15250241-15250242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539458713	chr11:15250259-15250260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555313993	chr11:15250274-15250275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116957690	chr11:15250309-15250310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576153871	chr11:15250310-15250311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543493195	chr11:15250331-15250332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531299836	chr11:15250335-15250336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563562745	chr11:15250376-15250377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199774919	chr11:15250377-15250378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34890506	chr11:15250390-15250391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77605594	chr11:15250394-15250395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1792566	chr11:15250402-15250403	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs368125088	chr11:15250423-15250424	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560192018	chr11:15250449-15250450	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527543676	chr11:15250452-15250453	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1792567	chr11:15250468-15250469	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs118051376	chr11:15250527-15250528	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531468204	chr11:15250572-15250573	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192060866	chr11:15250605-15250606	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568683649	chr11:15250643-15250644	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1792568	chr11:15250651-15250652	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs137918673	chr11:15250652-15250653	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539714085	chr11:15250682-15250683	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184661522	chr11:15250699-15250700	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576016391	chr11:15250701-15250702	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188444302	chr11:15250711-15250712	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555578634	chr11:15250794-15250795	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56704732	chr11:15250907-15250908	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4756803	chr11:15250926-15250927	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs376548164	chr11:15250928-15250929	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112048107	chr11:15250941-15250942	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111368661	chr11:15250948-15250949	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572393428	chr11:15250965-15250966	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1792569	chr11:15250966-15250967	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs192861903	chr11:15251063-15251064	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531329121	chr11:15251177-15251178	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142319365	chr11:15251178-15251179	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145976878	chr11:15251187-15251188	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Myelofibrosis	22110671	CNVD
Cancer	24489367	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Neuroblastoma	19435921	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:15234400-15272000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:15242000-15269000	Weak transcription	Pancreas	Pancrea
3	chr11:15245000-15271200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr11:15245400-15259600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:15246800-15254200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:15247200-15250600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:15248000-15252200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:15250400-15251200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:15250400-15251200	Enhancers	Osteobl	bone
10	chr11:15250400-15252200	Weak transcription	Fetal Stomach	stomach
11	chr11:15250600-15254800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr11:15250600-15261800	Weak transcription	Aorta	Aorta
13	chr11:15252200-15252600	Strong transcription	Fetal Stomach	stomach
14	chr11:15252200-15257000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:15252600-15255200	Weak transcription	Fetal Stomach	stomach
16	chr11:15253400-15253600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:15253600-15261800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:15253600-15263200	Weak transcription	Fetal Intestine Small	intestine
19	chr11:15254200-15256400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:15254800-15255200	Enhancers	Brain Germinal Matrix	brain
21	chr11:15254800-15255600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr11:15254800-15255600	Enhancers	Primary B cells from peripheral blood	blood
23	chr11:15254800-15255600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr11:15255000-15255200	Enhancers	Primary B cells from cord blood	blood
25	chr11:15255000-15255600	Enhancers	Primary hematopoietic stem cells	blood
26	chr11:15255200-15255400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:15255200-15255400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:15255200-15255400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr11:15255200-15255800	Enhancers	Fetal Stomach	stomach
30	chr11:15255200-15258000	Weak transcription	Brain Germinal Matrix	brain
31	chr11:15255400-15257800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:15255400-15258000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:15255600-15257600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:15256200-15256800	Enhancers	HSMMtube	muscle
35	chr11:15256400-15262200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:15256600-15256800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:15256800-15258000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:15257000-15260200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:15257600-15258400	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr11:15257800-15258200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr11:15257800-15258400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:15258000-15258400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:15258000-15258600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr11:15258000-15258600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr11:15258000-15258600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr11:15258000-15258800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:15258000-15258800	Enhancers	Brain Germinal Matrix	brain
48	chr11:15258000-15259000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:15258000-15259200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:15258200-15258600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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