Variant report

Variant	esv1810599
Chromosome Location	chr11:9323353-9324496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9324025..9326025-chr11:9386165..9388976,2	K562	blood:
2	chr11:9316943..9319199-chr11:9321655..9323938,2	K562	blood:
3	chr11:9320121..9324688-chr11:9334835..9338165,5	K562	blood:
4	chr11:9323308..9325382-chr11:9329913..9332100,2	K562	blood:
5	chr11:9321121..9324155-chr11:9406069..9408356,3	K562	blood:

Variant related genes	Relation type
ENSG00000166471	chromatin interactions
ENSG00000205339	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4537761	chr11:9323353-9323354	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139746692	chr11:9323379-9323380	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs372656699	chr11:9323387-9323388	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs188016027	chr11:9323390-9323391	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs370221276	chr11:9323466-9323467	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs368042907	chr11:9323519-9323520	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs5789599	chr11:9323531-9323532	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs398097358	chr11:9323532-9323533	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs367929447	chr11:9323536-9323537	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs11297732	chr11:9323555-9323556	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs545424315	chr11:9323577-9323578	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs192549808	chr11:9323618-9323619	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs572310579	chr11:9323634-9323635	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs9943598	chr11:9323647-9323648	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs9943499	chr11:9323654-9323655	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs9943500	chr11:9323657-9323658	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs111832890	chr11:9323662-9323663	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs113922438	chr11:9323663-9323664	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs113731051	chr11:9323664-9323665	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs561062233	chr11:9323669-9323670	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs12224671	chr11:9323679-9323680	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs111374959	chr11:9323707-9323708	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs201405393	chr11:9323720-9323721	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs576205149	chr11:9323721-9323722	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs530167264	chr11:9323747-9323748	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs543491602	chr11:9323807-9323808	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs201349006	chr11:9323835-9323836	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs532530128	chr11:9323847-9323848	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs551398449	chr11:9323894-9323895	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs56081129	chr11:9324017-9324018	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534493674	chr11:9324081-9324082	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs146613463	chr11:9324115-9324116	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs547577525	chr11:9324128-9324129	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs567449340	chr11:9324132-9324133	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs148758074	chr11:9324170-9324171	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs66462604	chr11:9324225-9324226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369630305	chr11:9324364-9324365	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs192215780	chr11:9324393-9324394	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs4910449	chr11:9324394-9324395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9287400-9332600	Weak transcription	HMEC	breast
2	chr11:9287400-9333000	Weak transcription	Gastric	stomach
3	chr11:9287800-9328400	Weak transcription	A549	lung
4	chr11:9287800-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:9296600-9332600	Weak transcription	Right Ventricle	heart
6	chr11:9296600-9333000	Weak transcription	Psoas Muscle	Psoas
7	chr11:9296600-9334800	Weak transcription	Aorta	Aorta
8	chr11:9296800-9332800	Weak transcription	Brain Angular Gyrus	brain
9	chr11:9296800-9333200	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:9296800-9333200	Weak transcription	Ovary	ovary
11	chr11:9298200-9323800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:9302200-9324800	Weak transcription	Fetal Brain Male	brain
13	chr11:9302600-9325200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:9302600-9332600	Weak transcription	Esophagus	oesophagus
15	chr11:9302600-9333200	Weak transcription	Spleen	Spleen
16	chr11:9302600-9333400	Weak transcription	Fetal Brain Female	brain
17	chr11:9302600-9333600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:9302600-9334600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr11:9302600-9334800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:9302800-9334600	Weak transcription	NH-A	brain
21	chr11:9303200-9332000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:9303200-9333000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:9303400-9334000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:9305800-9332800	Weak transcription	NHDF-Ad	bronchial
25	chr11:9306000-9332600	Weak transcription	Brain Germinal Matrix	brain
26	chr11:9308000-9325000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:9308200-9329200	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:9308200-9332600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:9308200-9334800	Weak transcription	Primary B cells from cord blood	blood
30	chr11:9308400-9324000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:9309400-9333800	Weak transcription	Adipose Nuclei	Adipose
32	chr11:9310000-9328400	Weak transcription	Fetal Heart	heart
33	chr11:9311400-9325000	Weak transcription	Colonic Mucosa	Colon
34	chr11:9311600-9324000	Weak transcription	GM12878-XiMat	blood
35	chr11:9312000-9331800	Weak transcription	HepG2	liver
36	chr11:9312600-9333200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:9312600-9334600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:9315000-9329800	Weak transcription	K562	blood
39	chr11:9316400-9332600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr11:9317000-9334800	Weak transcription	Placenta	Placenta
41	chr11:9317600-9325200	Weak transcription	Lung	lung
42	chr11:9318600-9323800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:9318600-9329800	Weak transcription	HSMM	muscle
44	chr11:9318800-9332600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:9318800-9333200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:9319600-9330400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:9319600-9332600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:9319600-9332600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:9319600-9333800	Weak transcription	NHLF	lung
50	chr11:9319800-9332600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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