Variant report

Variant	esv3402556
Chromosome Location	chr11:121005842-121010040
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	BCL3	chr11:121007631-121008081	GM12878	blood:	n/a	n/a
2	BCL3	chr11:121006400-121006750	GM12878	blood:	n/a	n/a
3	BCL3	chr11:121007643-121008110	GM12878	blood:	n/a	n/a
4	BRCA1	chr11:121007841-121007965	GM12878	blood:	n/a	n/a
5	CHD2	chr11:121007843-121007996	GM12878	blood:	n/a	n/a
6	CTCF	chr11:121007903-121007906	MCF-7	breast:	n/a	n/a
7	CTCF	chr11:121007966-121007974	MCF-7	breast:	n/a	n/a
8	CTCF	chr11:121007957-121007964	MCF-7	breast:	n/a	n/a
9	CTCF	chr11:121007903-121007909	GM19239	blood:	n/a	n/a
10	CTCF	chr11:121007910-121007919	GM19239	blood:	n/a	n/a
11	CTCF	chr11:121007978-121008033	MCF-7	breast:	n/a	n/a
12	CTCF	chr11:121007878-121007897	GM19239	blood:	n/a	n/a
13	CTCF	chr11:121007800-121007950	GM12875	blood:	n/a	n/a
14	CTCF	chr11:121007924-121008060	GM19239	blood:	n/a	n/a
15	CTCF	chr11:121007882-121007940	MCF-7	breast:	n/a	n/a
16	IRF1	chr11:121006160-121006197	K562	blood:	n/a	n/a
17	MAX	chr11:121007750-121007983	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr11:121007805-121008060	NB4	blood:	n/a	chr11:121008016-121008026
19	MYC	chr11:121007937-121007968	MCF-7	breast:	n/a	n/a
20	MYC	chr11:121007903-121007911	MCF-7	breast:	n/a	n/a
21	NFATC1	chr11:121007658-121008108	GM12878	blood:	n/a	n/a
22	NFATC1	chr11:121007626-121008172	GM12878	blood:	n/a	n/a
23	PBX3	chr11:121007712-121008046	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:121007873-121008029	MCF-7	breast:	n/a	n/a
25	POLR2A	chr11:121007910-121007982	A549	lung:	n/a	n/a
26	POLR2A	chr11:121007897-121007960	MCF-7	breast:	n/a	n/a
27	SPI1	chr11:121008902-121009437	HL-60	blood:	n/a	chr11:121009167-121009180
28	SPI1	chr11:121009088-121009215	GM12878	blood:	n/a	chr11:121009167-121009180
29	SPI1	chr11:121008980-121009324	GM12891	blood:	n/a	chr11:121009167-121009180
30	SPI1	chr11:121008991-121009391	GM12891	blood:	n/a	chr11:121009167-121009180
31	SPI1	chr11:121009052-121009260	K562	blood:	n/a	chr11:121009167-121009180
32	SPI1	chr11:121009011-121009286	GM12878	blood:	n/a	chr11:121009167-121009180
33	SPI1	chr11:121009017-121009310	K562	blood:	n/a	chr11:121009167-121009180
34	SPI1	chr11:121009072-121009378	HL-60	blood:	n/a	chr11:121009167-121009180
35	SPI1	chr11:121008861-121009422	GM12878	blood:	n/a	chr11:121009167-121009180
36	STAT5A	chr11:121007670-121008062	GM12878	blood:	n/a	n/a
37	SUZ12	chr11:121007742-121008112	H1-hESC	embryonic stem cell:	n/a	n/a
38	TCF3	chr11:121007767-121008023	GM12878	blood:	n/a	n/a
39	TCF3	chr11:121007747-121008142	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
TECTA	TF binding region

Extended variants
information (count: 188 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560557220	chr11:121005889-121005890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs151191464	chr11:121005989-121005990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183226303	chr11:121006026-121006027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578055588	chr11:121006055-121006056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531204720	chr11:121006084-121006085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545106833	chr11:121006117-121006118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557339551	chr11:121006124-121006125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186827268	chr11:121006156-121006157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543703269	chr11:121006165-121006166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561504073	chr11:121006244-121006245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576986356	chr11:121006248-121006249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550088872	chr11:121006267-121006268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540722000	chr11:121006290-121006291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs678275	chr11:121006298-121006299	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11218154	chr11:121006301-121006302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140407698	chr11:121006307-121006308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563302141	chr11:121006340-121006341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11218155	chr11:121006345-121006346	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs150381852	chr11:121006349-121006350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191392433	chr11:121006358-121006359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4936579	chr11:121006387-121006388	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs575608059	chr11:121006419-121006420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547101390	chr11:121006462-121006463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138068164	chr11:121006476-121006477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143012583	chr11:121006478-121006479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557025249	chr11:121006480-121006481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147024296	chr11:121006497-121006498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138437789	chr11:121006525-121006526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113382717	chr11:121006526-121006527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183458231	chr11:121006649-121006650	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs4427574	chr11:121006650-121006651	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540858779	chr11:121006668-121006669	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs537515913	chr11:121006671-121006672	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs5795262	chr11:121006672-121006673	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs397747229	chr11:121006681-121006682	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs397687784	chr11:121006682-121006683	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs559146429	chr11:121006690-121006691	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs527831860	chr11:121006699-121006700	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs545099027	chr11:121006729-121006730	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs563130900	chr11:121006771-121006772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112269681	chr11:121006825-121006826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530575407	chr11:121006828-121006829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370467859	chr11:121006829-121006830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376121244	chr11:121006899-121006900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561603529	chr11:121006916-121006917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528810549	chr11:121006917-121006918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143909014	chr11:121006930-121006931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571815392	chr11:121006968-121006969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs598696	chr11:121006976-121006977	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs551093595	chr11:121006995-121006996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	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
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120993200-121008000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:120994000-121016200	Weak transcription	Brain Substantia Nigra	brain
3	chr11:120994400-121042400	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:120996800-121016400	Weak transcription	Ovary	ovary
5	chr11:120996800-121037800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:120998400-121007800	Weak transcription	Fetal Brain Male	brain
7	chr11:120998800-121007800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:120998800-121009400	Weak transcription	Spleen	Spleen
9	chr11:120999000-121007800	Weak transcription	Gastric	stomach
10	chr11:120999000-121011200	Weak transcription	Aorta	Aorta
11	chr11:120999200-121016200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:120999600-121007800	Weak transcription	Brain Germinal Matrix	brain
13	chr11:120999600-121041600	Weak transcription	Brain Anterior Caudate	brain
14	chr11:121000000-121025200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:121001000-121008400	Weak transcription	Fetal Brain Female	brain
16	chr11:121001200-121007800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:121001200-121012000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:121001400-121028000	Weak transcription	Fetal Stomach	stomach
19	chr11:121003200-121007800	Weak transcription	Pancreas	Pancrea
20	chr11:121004400-121007000	Enhancers	Fetal Muscle Leg	muscle
21	chr11:121005000-121006000	Enhancers	Right Atrium	heart
22	chr11:121005000-121006600	Enhancers	Fetal Heart	heart
23	chr11:121005200-121006400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr11:121005200-121006600	Enhancers	HSMMtube	muscle
25	chr11:121005400-121006000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr11:121005600-121006400	Enhancers	Right Ventricle	heart
27	chr11:121005800-121023600	Weak transcription	Left Ventricle	heart
28	chr11:121006000-121006200	Weak transcription	Right Atrium	heart
29	chr11:121006000-121024800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr11:121006400-121007200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:121006400-121035400	Weak transcription	Brain Angular Gyrus	brain
32	chr11:121006400-121040200	Weak transcription	Right Ventricle	heart
33	chr11:121006600-121010000	Weak transcription	Fetal Heart	heart
34	chr11:121006600-121034800	Weak transcription	HSMMtube	muscle
35	chr11:121007000-121028800	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:121007200-121011400	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:121007800-121008000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:121007800-121008000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:121007800-121008000	ZNF genes & repeats	Fetal Brain Male	brain
40	chr11:121007800-121008200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:121007800-121008200	ZNF genes & repeats	Gastric	stomach
42	chr11:121007800-121008400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:121007800-121008800	Strong transcription	Brain Germinal Matrix	brain
44	chr11:121007800-121009000	Strong transcription	Pancreas	Pancrea
45	chr11:121008000-121008200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:121008000-121008800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr11:121008000-121009200	Weak transcription	Fetal Brain Male	brain
48	chr11:121008000-121028600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:121008200-121009400	Strong transcription	Gastric	stomach
50	chr11:121008400-121008800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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