Variant report

Variant	nsv1047828
Chromosome Location	chr11:92886648-92915055
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	chr11:92903235-92903466	K562	blood:	n/a	n/a
2	ARID3A	chr11:92903283-92903384	HepG2	liver:	n/a	n/a
3	CEBPB	chr11:92902299-92902653	HepG2	liver:	n/a	chr11:92902468-92902479
4	CEBPB	chr11:92914385-92914488	K562	blood:	n/a	n/a
5	CEBPB	chr11:92902285-92902616	H1-hESC	embryonic stem cell:	n/a	chr11:92902468-92902479
6	CEBPB	chr11:92902294-92902665	IMR90	lung:	n/a	chr11:92902468-92902479
7	CEBPB	chr11:92902294-92902662	K562	blood:	n/a	chr11:92902468-92902479
8	CEBPB	chr11:92902286-92902674	Hela-S3	cervix:	n/a	chr11:92902468-92902479
9	CEBPB	chr11:92902324-92902661	A549	lung:	n/a	chr11:92902468-92902479
10	CEBPB	chr11:92902254-92902666	A549	lung:	n/a	chr11:92902468-92902479
11	CTCF	chr11:92903261-92903385	GM10248	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
12	CTCF	chr11:92903260-92903410	GM12873	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
13	CTCF	chr11:92894020-92894170	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr11:92903260-92903410	HPAF	blood vessel:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
15	CTCF	chr11:92903260-92903410	GM12872	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
16	CTCF	chr11:92903297-92903369	GM13976	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
17	CTCF	chr11:92903240-92903390	HCPEpiC	choroid plexus:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
18	CTCF	chr11:92903240-92903390	HEEpiC	esophagus:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
19	CTCF	chr11:92903140-92903290	GM12864	blood:	n/a	n/a
20	CTCF	chr11:92903300-92903450	GM12874	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
21	CTCF	chr11:92903220-92903370	GM12870	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
22	CTCF	chr11:92903240-92903415	LNCaP	prostate:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
23	CTCF	chr11:92903220-92903370	GM12873	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
24	CTCF	chr11:92894100-92894250	NHEK	skin:	n/a	n/a
25	CTCF	chr11:92894120-92894270	GM12872	blood:	n/a	n/a
26	CTCF	chr11:92903240-92903390	AG04450	lung:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
27	CTCF	chr11:92894100-92894250	BJ	skin:	n/a	n/a
28	CTCF	chr11:92903260-92903410	GM12865	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
29	CTCF	chr11:92903240-92903390	AG04449	skin:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
30	CTCF	chr11:92903240-92903390	BE2_C	brain:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
31	CTCF	chr11:92903260-92903410	HVMF	connective:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
32	CTCF	chr11:92903260-92903410	HCT-116	colon:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
33	CTCF	chr11:92903600-92903750	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr11:92894020-92894170	GM12873	blood:	n/a	n/a
35	CTCF	chr11:92903240-92903390	HAc	cerebellar:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
36	CTCF	chr11:92903200-92903350	GM12875	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
37	CTCF	chr11:92903232-92903396	HepG2	liver:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
38	CTCF	chr11:92903320-92903470	GM12865	blood:	n/a	n/a
39	CTCF	chr11:92903240-92903390	RPTEC	kidney:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
40	CTCF	chr11:92903031-92903634	A549	lung:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
41	CTCF	chr11:92903240-92903390	HRPEpiC	eye:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
42	CTCF	chr11:92903280-92903430	WERI-Rb-1	eye:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
43	CTCF	chr11:92903220-92903370	GM06990	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
44	CTCF	chr11:92903260-92903410	HFF	foreskin:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
45	CTCF	chr11:92903320-92903470	NHDF-neo	bronchial:	n/a	n/a
46	CTCF	chr11:92903220-92903370	K562	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
47	CTCF	chr11:92903220-92903370	AoAF	blood vessel:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
48	CTCF	chr11:92903260-92903410	HepG2	liver:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
49	CTCF	chr11:92903220-92903370	AG10803	skin:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
50	CTCF	chr11:92903026-92903538	HCT-116	colon:	n/a	chr11:92903306-92903327 chr11:92903311-92903329

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:92895585..92897529-chr11:92904062..92906165,2	K562	blood:
2	chr11:92895585..92897529-chr11:92904062..92906165,2	K562	blood:

Variant related genes	Relation type
SLC36A4	TF binding region

Extended variants
information (count: 891 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:891 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10830989	chr11:92886648-92886649	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112109927	chr11:92886649-92886650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147470056	chr11:92886650-92886651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188168095	chr11:92886672-92886673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139243449	chr11:92886684-92886685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116412174	chr11:92886694-92886695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572038109	chr11:92886722-92886723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180898374	chr11:92886781-92886782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149967051	chr11:92886811-92886812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75647801	chr11:92886915-92886916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564375548	chr11:92886922-92886923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576067619	chr11:92886930-92886931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186311237	chr11:92886997-92886998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561912292	chr11:92887000-92887001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529078954	chr11:92887134-92887135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541371387	chr11:92887177-92887178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78317190	chr11:92887205-92887206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570439171	chr11:92887229-92887230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199948847	chr11:92887231-92887232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577970283	chr11:92887241-92887242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191011114	chr11:92887262-92887263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182082275	chr11:92887296-92887297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368158946	chr11:92887298-92887299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540658503	chr11:92887304-92887305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373793634	chr11:92887327-92887328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377056465	chr11:92887333-92887334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371565740	chr11:92887339-92887340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144566090	chr11:92887349-92887350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17854445	chr11:92887354-92887355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139534791	chr11:92887378-92887379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143575651	chr11:92887383-92887384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374712275	chr11:92887386-92887387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375961741	chr11:92887397-92887398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367750102	chr11:92887406-92887407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17854444	chr11:92887413-92887414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147137520	chr11:92887421-92887422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200947849	chr11:92887445-92887446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546765758	chr11:92887495-92887496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571852565	chr11:92887556-92887557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186669390	chr11:92887618-92887619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10765587	chr11:92887641-92887642	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs575987605	chr11:92887685-92887686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537173131	chr11:92887732-92887733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555486327	chr11:92887788-92887789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192025203	chr11:92887823-92887824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367962409	chr11:92887897-92887898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559451144	chr11:92887941-92887942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs995767	chr11:92887963-92887964	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs545277029	chr11:92888057-92888058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148670262	chr11:92888077-92888078	Weak transcription Strong transcription	n/a	n/a	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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	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	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	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
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:606 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92867200-92896400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr11:92868000-92889000	Weak transcription	Adipose Nuclei	Adipose
3	chr11:92868400-92914600	Weak transcription	Brain Substantia Nigra	brain
4	chr11:92875000-92892800	Weak transcription	Primary B cells from cord blood	blood
5	chr11:92875400-92910400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:92876400-92896600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:92876600-92900400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:92876600-92910600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:92876800-92910600	Weak transcription	Lung	lung
10	chr11:92877000-92890400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:92877000-92911400	Weak transcription	Osteobl	bone
12	chr11:92877200-92890000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:92877200-92894800	Weak transcription	HSMM	muscle
14	chr11:92877800-92899600	Weak transcription	NHLF	lung
15	chr11:92877800-92915000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:92878000-92894600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:92878200-92888200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr11:92878400-92887400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr11:92878400-92910600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:92878600-92890800	Weak transcription	Left Ventricle	heart
21	chr11:92878800-92889200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:92878800-92890600	Weak transcription	Dnd41	blood
23	chr11:92878800-92893200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:92878800-92895800	Weak transcription	Brain Germinal Matrix	brain
25	chr11:92878800-92896000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:92879000-92889200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:92879000-92896600	Weak transcription	Ovary	ovary
28	chr11:92879000-92900200	Weak transcription	Fetal Muscle Leg	muscle
29	chr11:92879000-92910800	Weak transcription	HSMMtube	muscle
30	chr11:92879200-92890200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:92879200-92890400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:92879200-92892600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr11:92879200-92896600	Weak transcription	Fetal Brain Female	brain
34	chr11:92879600-92889200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:92879600-92890000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:92879600-92910000	Weak transcription	Fetal Brain Male	brain
37	chr11:92879600-92910800	Weak transcription	HMEC	breast
38	chr11:92880200-92894600	Weak transcription	Placenta	Placenta
39	chr11:92880400-92895800	Weak transcription	Brain Angular Gyrus	brain
40	chr11:92881000-92888400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:92881000-92889000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:92881200-92894000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr11:92881200-92894800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:92881200-92899200	Weak transcription	NH-A	brain
45	chr11:92881400-92889200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:92881800-92895200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:92882000-92890400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr11:92882000-92910600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:92884400-92894200	Weak transcription	Hela-S3	cervix
50	chr11:92884600-92897000	Weak transcription	Brain Hippocampus Middle	brain

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