Variant report

Variant	esv3439808
Chromosome Location	chr11:76074633-76079115
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr11:76076174-76076282	K562	blood:	n/a	n/a
2	CCNT2	chr11:76076267-76076412	K562	blood:	n/a	n/a
3	CEBPB	chr11:76077565-76077823	K562	blood:	n/a	n/a
4	CEBPB	chr11:76077573-76077776	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPD	chr11:76075983-76076497	K562	blood:	n/a	n/a
6	CEBPD	chr11:76076039-76076471	K562	blood:	n/a	n/a
7	CTCF	chr11:76074674-76074789	GM10248	blood:	n/a	n/a
8	CUX1	chr11:76076804-76077035	K562	blood:	n/a	n/a
9	EGR1	chr11:76076009-76076334	K562	blood:	n/a	n/a
10	EP300	chr11:76076093-76076427	K562	blood:	n/a	n/a
11	EP300	chr11:76076352-76076434	K562	blood:	n/a	n/a
12	GABPA	chr11:76076110-76076364	K562	blood:	n/a	n/a
13	GATA1	chr11:76076022-76076456	PBDE	blood:	n/a	n/a
14	GATA2	chr11:76076051-76076502	K562	blood:	n/a	n/a
15	GATA3	chr11:76074041-76074724	MCF-7	breast:	n/a	chr11:76074611-76074622
16	GATA3	chr11:76078998-76079305	SH-SY5Y	brain:	n/a	n/a
17	HDAC2	chr11:76075968-76076432	K562	blood:	n/a	n/a
18	HDAC2	chr11:76076001-76076414	K562	blood:	n/a	n/a
19	JUND	chr11:76076190-76076627	K562	blood:	n/a	n/a
20	POLR2A	chr11:76076343-76076358	K562	blood:	n/a	n/a
21	POLR2A	chr11:76076220-76076231	K562	blood:	n/a	n/a
22	POLR2A	chr11:76076506-76076535	MCF-7	breast:	n/a	n/a
23	POLR2A	chr11:76076233-76076261	K562	blood:	n/a	n/a
24	POLR2A	chr11:76076028-76076487	K562	blood:	n/a	n/a
25	POLR2A	chr11:76076053-76076369	K562	blood:	n/a	n/a
26	POLR2A	chr11:76076493-76076592	MCF-7	breast:	n/a	n/a
27	POLR2A	chr11:76076034-76076365	K562	blood:	n/a	n/a
28	POLR2A	chr11:76076619-76076628	MCF-7	breast:	n/a	n/a
29	POLR2A	chr11:76076552-76076617	MCF-7	breast:	n/a	n/a
30	RCOR1	chr11:76076047-76076640	K562	blood:	n/a	n/a
31	RCOR1	chr11:76076080-76076430	K562	blood:	n/a	n/a
32	SPI1	chr11:76075560-76075916	HL-60	blood:	n/a	n/a
33	STAT3	chr11:76075626-76075706	MCF10A-Er-Src	breast:	n/a	n/a
34	TAL1	chr11:76076068-76076447	K562	blood:	n/a	n/a
35	TBL1XR1	chr11:76076207-76076449	K562	blood:	n/a	n/a
36	TEAD4	chr11:76076033-76076417	K562	blood:	n/a	n/a
37	ZMIZ1	chr11:76076183-76076284	K562	blood:	n/a	n/a
38	ZNF384	chr11:76076084-76076724	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:76075524..76077894-chr11:76154235..76156946,2	MCF-7	breast:
2	chr11:76072573..76074969-chr11:76078510..76081231,2	K562	blood:
3	chr11:76073015..76075782-chr11:76080642..76082701,2	MCF-7	breast:
4	chr11:76074979..76076498-chr11:76155898..76158207,2	K562	blood:
5	chr11:76074770..76077133-chr11:76087640..76089591,2	K562	blood:

No data

Variant related genes	Relation type
PRKRIR	TF binding region
ENSG00000255135	chromatin interactions
ENSG00000137492	chromatin interactions
ENSG00000158636	chromatin interactions

Extended variants
information (count: 185 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:185 , 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	rs111936278	chr11:76074633-76074634	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs139917819	chr11:76074641-76074642	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs59063258	chr11:76074648-76074649	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs201424513	chr11:76074649-76074650	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs562506748	chr11:76074669-76074670	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs531453785	chr11:76074699-76074700	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs541972672	chr11:76074714-76074715	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs186406344	chr11:76074735-76074736	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs560742796	chr11:76074736-76074737	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs527324695	chr11:76074768-76074769	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs547074042	chr11:76074775-76074776	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs61892805	chr11:76074797-76074798	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373410925	chr11:76074801-76074802	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs190459703	chr11:76074804-76074805	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542680392	chr11:76074820-76074821	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559890867	chr11:76074843-76074844	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs527312708	chr11:76074846-76074847	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181687831	chr11:76074852-76074853	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569887689	chr11:76074881-76074882	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs147509589	chr11:76074889-76074890	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555477384	chr11:76074892-76074893	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs138506123	chr11:76074893-76074894	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535066233	chr11:76074895-76074896	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs185866914	chr11:76074956-76074957	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577080060	chr11:76074974-76074975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545749383	chr11:76074976-76074977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75905078	chr11:76075014-76075015	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576336651	chr11:76075015-76075016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs542034211	chr11:76075016-76075017	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs561810931	chr11:76075044-76075045	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs527334481	chr11:76075084-76075085	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs541031256	chr11:76075087-76075088	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs74900392	chr11:76075108-76075109	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs115771737	chr11:76075109-76075110	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535073776	chr11:76075138-76075139	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550236926	chr11:76075139-76075140	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570000539	chr11:76075142-76075143	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs374730120	chr11:76075198-76075199	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs377581082	chr11:76075369-76075370	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369055042	chr11:76075390-76075391	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531915228	chr11:76075442-76075443	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs551324515	chr11:76075526-76075527	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs549164993	chr11:76075536-76075537	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs191255420	chr11:76075673-76075674	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs534770396	chr11:76075681-76075682	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs141994564	chr11:76075713-76075714	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs371494733	chr11:76075726-76075727	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs370603800	chr11:76075730-76075731	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs571577482	chr11:76075735-76075736	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs537435195	chr11:76075743-76075744	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:218 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76054600-76080600	Weak transcription	Psoas Muscle	Psoas
2	chr11:76056800-76080600	Weak transcription	Small Intestine	intestine
3	chr11:76059000-76082000	Weak transcription	HMEC	breast
4	chr11:76062600-76079200	Weak transcription	Stomach Mucosa	stomach
5	chr11:76063000-76077000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:76066000-76077600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:76066200-76079400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:76066200-76085800	Weak transcription	Esophagus	oesophagus
9	chr11:76066400-76077000	Weak transcription	Fetal Heart	heart
10	chr11:76066400-76079600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:76066400-76089200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:76066400-76090000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:76066600-76074800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:76066600-76076000	Weak transcription	Thymus	Thymus
15	chr11:76066600-76076800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr11:76066600-76080600	Weak transcription	Spleen	Spleen
17	chr11:76066600-76082000	Weak transcription	Right Ventricle	heart
18	chr11:76066600-76082000	Weak transcription	NH-A	brain
19	chr11:76066600-76090000	Weak transcription	Fetal Brain Female	brain
20	chr11:76066800-76082000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:76067200-76077200	Weak transcription	HepG2	liver
22	chr11:76067400-76074800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:76067400-76076000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:76067400-76076800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:76067400-76077800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:76067400-76080600	Weak transcription	Right Atrium	heart
27	chr11:76067400-76082000	Weak transcription	NHLF	lung
28	chr11:76067600-76074800	Strong transcription	Primary hematopoietic stem cells	blood
29	chr11:76067600-76075400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr11:76067600-76075600	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:76067600-76076000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:76067600-76076000	Weak transcription	Ovary	ovary
33	chr11:76067600-76076000	Strong transcription	Dnd41	blood
34	chr11:76067600-76076400	Weak transcription	Gastric	stomach
35	chr11:76067600-76076600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:76067600-76079000	Weak transcription	Fetal Lung	lung
37	chr11:76067600-76079400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr11:76067600-76082000	Weak transcription	Aorta	Aorta
39	chr11:76067600-76082000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr11:76067600-76082000	Weak transcription	GM12878-XiMat	blood
41	chr11:76067600-76082000	Weak transcription	NHEK	skin
42	chr11:76067600-76082200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:76067600-76082400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:76067600-76085800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:76067600-76090400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:76067600-76091000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:76067800-76076000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:76067800-76079200	Weak transcription	Fetal Kidney	kidney
49	chr11:76067800-76079400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr11:76067800-76080400	Weak transcription	Liver	Liver

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