Variant report

Variant	esv3370588
Chromosome Location	chr11:8641416-8642354
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	CTCF	chr11:8642040-8642190	HMEC	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:8639153..8644664-chr11:8708674..8711558,4	K562	blood:
2	chr11:8638813..8643565-chr11:8702244..8705036,4	K562	blood:
3	chr11:8639960..8642572-chr11:8643233..8645005,2	K562	blood:

Variant related genes	Relation type
TRIM66	TF binding region
ENSG00000166436	chromatin interactions
ENSG00000166441	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112261083	chr11:8641482-8641483	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs7946508	chr11:8641501-8641502	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs141722140	chr11:8641575-8641576	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs115128957	chr11:8641583-8641584	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs537593567	chr11:8641586-8641587	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs369756388	chr11:8641600-8641601	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs373351195	chr11:8641609-8641610	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs202023010	chr11:8641661-8641662	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs557508364	chr11:8641690-8641691	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs11042014	chr11:8641739-8641740	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs185302569	chr11:8641830-8641831	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs549335317	chr11:8641853-8641854	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs7943945	chr11:8641882-8641883	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs191438778	chr11:8641889-8641890	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs544756994	chr11:8641924-8641925	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs558278528	chr11:8641947-8641948	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs576995900	chr11:8641959-8641960	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs545663403	chr11:8641997-8641998	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs150122555	chr11:8642003-8642004	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs138444298	chr11:8642028-8642029	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs553401779	chr11:8642030-8642031	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs541681401	chr11:8642065-8642066	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs376336460	chr11:8642089-8642090	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs530423960	chr11:8642109-8642110	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs7950166	chr11:8642218-8642219	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs149257219	chr11:8642224-8642225	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs533011954	chr11:8642228-8642229	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs571362850	chr11:8642260-8642261	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs55780316	chr11:8642329-8642330	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs147339755	chr11:8642333-8642334	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs553764303	chr11:8642354-8642355	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Barrett''s syndrome	19417022	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8626000-8661600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:8626000-8661800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:8626200-8653000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:8626400-8643400	Weak transcription	Fetal Lung	lung
5	chr11:8626600-8648800	Weak transcription	Stomach Mucosa	stomach
6	chr11:8626800-8659600	Weak transcription	Hela-S3	cervix
7	chr11:8627800-8642400	Weak transcription	A549	lung
8	chr11:8630200-8642400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:8630600-8653000	Weak transcription	Osteobl	bone
10	chr11:8630800-8645400	Weak transcription	NHLF	lung
11	chr11:8630800-8645600	Weak transcription	NH-A	brain
12	chr11:8630800-8645800	Weak transcription	NHDF-Ad	bronchial
13	chr11:8631000-8644000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:8632000-8641600	Weak transcription	Brain Angular Gyrus	brain
15	chr11:8632400-8644800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:8632600-8644600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:8632800-8643600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:8632800-8644200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:8632800-8659000	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:8632800-8663800	Weak transcription	Fetal Kidney	kidney
21	chr11:8633000-8641600	Weak transcription	Fetal Heart	heart
22	chr11:8633000-8642200	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:8634000-8646800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:8634200-8647200	Strong transcription	Liver	Liver
25	chr11:8634600-8642400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr11:8634600-8644000	Weak transcription	Brain Substantia Nigra	brain
27	chr11:8634600-8645600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:8634600-8661600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:8634600-8661800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:8634800-8644000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:8634800-8657600	Weak transcription	Psoas Muscle	Psoas
32	chr11:8635200-8642800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:8635200-8645400	Weak transcription	HUVEC	blood vessel
34	chr11:8635400-8644000	Weak transcription	HSMM	muscle
35	chr11:8635400-8646800	Weak transcription	Fetal Brain Male	brain
36	chr11:8635400-8647000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:8635400-8661400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr11:8635600-8647000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:8635800-8642200	Weak transcription	HSMMtube	muscle
40	chr11:8635800-8644600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:8636000-8643600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:8636200-8646400	Weak transcription	Fetal Brain Female	brain
43	chr11:8636200-8646600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:8636200-8661400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:8636600-8657000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr11:8636800-8643200	Strong transcription	Primary B cells from cord blood	blood
47	chr11:8636800-8647000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr11:8636800-8647200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr11:8636800-8647400	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:8637000-8647200	Strong transcription	Fetal Intestine Small	intestine

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