Variant report

Variant	nsv975958
Chromosome Location	chr11:85906731-85907947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:85907402-85908387	K562	blood:	n/a	n/a
2	ATF1	chr11:85907288-85908307	K562	blood:	n/a	n/a
3	BHLHE40	chr11:85907580-85907701	K562	blood:	n/a	n/a
4	CCNT2	chr11:85907385-85907615	K562	blood:	n/a	n/a
5	CEBPB	chr11:85907910-85908290	K562	blood:	n/a	chr11:85908094-85908107
6	CEBPB	chr11:85906954-85908288	Hela-S3	cervix:	n/a	chr11:85907033-85907045 chr11:85908094-85908107
7	CEBPB	chr11:85907911-85908953	K562	blood:	n/a	chr11:85908094-85908107
8	CTCF	chr11:85907760-85907910	GM12873	blood:	n/a	n/a
9	CUX1	chr11:85907057-85907709	K562	blood:	n/a	n/a
10	EP300	chr11:85907179-85908919	K562	blood:	n/a	chr11:85907523-85907537 chr11:85908441-85908450 chr11:85907260-85907270 chr11:85908311-85908318 chr11:85907282-85907291
11	EP300	chr11:85907037-85908188	Hela-S3	cervix:	n/a	chr11:85907523-85907537 chr11:85907260-85907270 chr11:85907282-85907291
12	FOS	chr11:85907222-85907405	MCF10A-Er-Src	breast:	n/a	chr11:85907282-85907291 chr11:85907282-85907289
13	FOS	chr11:85907246-85907326	MCF10A-Er-Src	breast:	n/a	chr11:85907282-85907291 chr11:85907282-85907289
14	GATA1	chr11:85907394-85909524	PBDE	blood:	n/a	chr11:85908503-85908513 chr11:85907557-85907573
15	GATA3	chr11:85906962-85907645	SK-N-SH	brain:	n/a	chr11:85907557-85907573
16	GATA3	chr11:85907109-85907712	SK-N-SH	brain:	n/a	chr11:85907557-85907573
17	GTF2F1	chr11:85907331-85907691	Hela-S3	cervix:	n/a	n/a
18	HCFC1	chr11:85907538-85907642	K562	blood:	n/a	n/a
19	HEY1	chr11:85907309-85907807	K562	blood:	n/a	n/a
20	IRF1	chr11:85907037-85908980	K562	blood:	n/a	n/a
21	IRF1	chr11:85907928-85908897	K562	blood:	n/a	n/a
22	JUN	chr11:85907574-85909075	K562	blood:	n/a	n/a
23	JUND	chr11:85906994-85907713	Hela-S3	cervix:	n/a	chr11:85907282-85907291 chr11:85907282-85907289
24	JUND	chr11:85907126-85908878	K562	blood:	n/a	chr11:85907282-85907291 chr11:85907282-85907289
25	KAP1	chr11:85907302-85907884	U2OS	brain:	n/a	n/a
26	MAFF	chr11:85907404-85907773	K562	blood:	n/a	n/a
27	MAFK	chr11:85907599-85907643	K562	blood:	n/a	n/a
28	MAX	chr11:85907233-85907773	Hela-S3	cervix:	n/a	n/a
29	MAX	chr11:85907936-85908273	NB4	blood:	n/a	n/a
30	MAX	chr11:85907434-85907737	K562	blood:	n/a	n/a
31	MAX	chr11:85907214-85907728	Hela-S3	cervix:	n/a	n/a
32	MAZ	chr11:85907423-85907648	K562	blood:	n/a	n/a
33	MXI1	chr11:85907161-85907739	Hela-S3	cervix:	n/a	n/a
34	MYC	chr11:85907933-85908777	K562	blood:	n/a	n/a
35	MYC	chr11:85907506-85907592	Hela-S3	cervix:	n/a	n/a
36	MYC	chr11:85907301-85907631	K562	blood:	n/a	n/a
37	MYC	chr11:85907338-85907728	K562	blood:	n/a	n/a
38	MYC	chr11:85907245-85907731	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:85907889-85907905	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:85907210-85907510	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr11:85907148-85907845	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr11:85907129-85907138	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr11:85907021-85907072	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr11:85907177-85907750	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr11:85907141-85907869	Hela-S3	cervix:	n/a	n/a
46	RAD21	chr11:85907177-85907716	Hela-S3	cervix:	n/a	n/a
47	RCOR1	chr11:85907214-85907713	Hela-S3	cervix:	n/a	n/a
48	RCOR1	chr11:85907188-85908858	K562	blood:	n/a	n/a
49	RCOR1	chr11:85907468-85907766	K562	blood:	n/a	n/a
50	RFX5	chr11:85907219-85907715	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:85894603..85896311-chr11:85907931..85910681,2	K562	blood:
2	chr11:85777862..85782517-chr11:85902953..85907117,7	K562	blood:
3	chr11:85778187..85780114-chr11:85906688..85908300,2	K562	blood:
4	chr11:85520588..85523121-chr11:85904931..85907542,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254699	TF binding region
ENSG00000137501	chromatin interactions
ENSG00000073921	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536107696	chr11:85906789-85906790	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs551432781	chr11:85906790-85906791	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs181467616	chr11:85906792-85906793	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs575980335	chr11:85906817-85906818	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374789102	chr11:85906888-85906889	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs545083258	chr11:85906921-85906922	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs558951636	chr11:85906926-85906927	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs572444830	chr11:85906933-85906934	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs369096687	chr11:85906977-85906978	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs372902102	chr11:85906984-85906985	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs185278438	chr11:85907006-85907007	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs188188642	chr11:85907029-85907030	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs375478188	chr11:85907030-85907031	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs180995699	chr11:85907066-85907067	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs12289420	chr11:85907140-85907141	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs147341032	chr11:85907290-85907291	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs532878675	chr11:85907310-85907311	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs185000339	chr11:85907316-85907317	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs571246453	chr11:85907363-85907364	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs539790094	chr11:85907385-85907386	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs375670434	chr11:85907391-85907392	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs527378396	chr11:85907406-85907407	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs536453035	chr11:85907414-85907415	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs116075228	chr11:85907425-85907426	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs191026508	chr11:85907449-85907450	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs183705363	chr11:85907459-85907460	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs556001469	chr11:85907483-85907484	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs569606939	chr11:85907548-85907549	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs187052764	chr11:85907549-85907550	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs558658387	chr11:85907577-85907578	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs10898444	chr11:85907608-85907609	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs191403545	chr11:85907615-85907616	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs75867407	chr11:85907617-85907618	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs12289695	chr11:85907618-85907619	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs544020113	chr11:85907661-85907662	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs563917055	chr11:85907734-85907735	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs577442865	chr11:85907739-85907740	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs546508135	chr11:85907742-85907743	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs3180320	chr11:85907814-85907815	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs75049246	chr11:85907823-85907824	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs535664636	chr11:85907843-85907844	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs61039312	chr11:85907854-85907855	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs547042215	chr11:85907903-85907904	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs373712490	chr11:85907913-85907914	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs139469517	chr11:85907916-85907917	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs201531283	chr11:85907926-85907927	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs549563191	chr11:85907931-85907932	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs556508781	chr11:85907941-85907942	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85898400-85913400	Weak transcription	Left Ventricle	heart
2	chr11:85902000-85908800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:85902800-85907000	Enhancers	Hela-S3	cervix
4	chr11:85904400-85907400	Weak transcription	Fetal Kidney	kidney
5	chr11:85904400-85913200	Weak transcription	Fetal Intestine Small	intestine
6	chr11:85904800-85907000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:85904800-85907000	Enhancers	K562	blood
8	chr11:85904800-85907200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:85904800-85908000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:85905000-85907000	Weak transcription	NHEK	skin
11	chr11:85905000-85907200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:85905000-85907200	Weak transcription	Osteobl	bone
13	chr11:85905000-85907400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:85905000-85907400	Weak transcription	Ovary	ovary
15	chr11:85905000-85907400	Weak transcription	Small Intestine	intestine
16	chr11:85905000-85908000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:85905000-85912400	Weak transcription	HSMM	muscle
18	chr11:85905000-85913200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:85905000-85913200	Weak transcription	Placenta	Placenta
20	chr11:85905000-85913200	Weak transcription	Fetal Stomach	stomach
21	chr11:85905200-85906800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:85905200-85907000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr11:85905200-85907200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:85905200-85907400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:85905200-85907400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:85905200-85907400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:85905200-85908200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:85905200-85908400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:85905200-85910800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:85905200-85913200	Weak transcription	Stomach Mucosa	stomach
31	chr11:85905400-85907200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:85905400-85907200	Weak transcription	Brain Angular Gyrus	brain
33	chr11:85905600-85906800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:85905600-85907200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr11:85905800-85907000	Weak transcription	Brain Hippocampus Middle	brain
36	chr11:85905800-85907600	Weak transcription	Brain Anterior Caudate	brain
37	chr11:85905800-85908000	Weak transcription	Adipose Nuclei	Adipose
38	chr11:85905800-85911200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:85905800-85913200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr11:85906000-85907200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr11:85906000-85907200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:85906600-85908800	Enhancers	Brain Substantia Nigra	brain
43	chr11:85906600-85909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:85906800-85908200	Enhancers	Brain Cingulate Gyrus	brain
45	chr11:85906800-85908200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr11:85907000-85908000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr11:85907000-85908200	Flanking Active TSS	Hela-S3	cervix
48	chr11:85907000-85908600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:85907000-85908800	Enhancers	NHEK	skin
50	chr11:85907000-85909000	Flanking Active TSS	K562	blood

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