Variant report

Variant	nsv526453
Chromosome Location	chr11:10499103-10502422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr11:10502338-10502709	SH-SY5Y	brain:	n/a	n/a
2	GTF2F1	chr11:10500971-10500974	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:10500388-10500509	K562	blood:	n/a	n/a
4	TAL1	chr11:10499613-10499750	K562	blood:	n/a	chr11:10499668-10499686
5	USF2	chr11:10501517-10501535	GM12878	blood:	n/a	n/a
6	ZKSCAN1	chr11:10501603-10501803	Hela-S3	cervix:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:10500501..10502775-chr11:10545214..10548072,2	K562	blood:
2	chr11:10500008..10502919-chr11:10521418..10523913,2	K562	blood:
3	chr11:10493608..10495918-chr11:10496985..10499261,2	K562	blood:
4	chr11:10499830..10501916-chr11:10504695..10506474,2	MCF-7	breast:
5	chr11:10500690..10503252-chr11:10504464..10507345,3	K562	blood:
6	chr11:10476533..10479339-chr11:10497995..10500038,2	K562	blood:
7	chr11:10499489..10502562-chr11:10546012..10549335,3	K562	blood:
8	chr11:10495930..10498423-chr11:10500094..10502413,3	K562	blood:

No data

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000133805	chromatin interactions

Extended variants
information (count: 132 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4910143	chr11:10499103-10499104	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376306542	chr11:10499250-10499251	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs572043030	chr11:10499254-10499255	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs10770118	chr11:10499334-10499335	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs566575452	chr11:10499340-10499341	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs180914609	chr11:10499364-10499365	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556061048	chr11:10499368-10499369	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs575716841	chr11:10499392-10499393	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373169412	chr11:10499393-10499394	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548216511	chr11:10499434-10499435	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs538455953	chr11:10499436-10499437	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs17401498	chr11:10499472-10499473	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs553815553	chr11:10499486-10499487	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs199567290	chr11:10499487-10499488	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577822732	chr11:10499497-10499498	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371050049	chr11:10499551-10499552	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs560168833	chr11:10499642-10499643	Strong transcription Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs184821026	chr11:10499681-10499682	Strong transcription Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs574490148	chr11:10499685-10499686	Strong transcription Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs114301497	chr11:10499704-10499705	Strong transcription Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs543182859	chr11:10499724-10499725	Strong transcription Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs531357107	chr11:10499749-10499750	Strong transcription Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs56975454	chr11:10499756-10499757	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564776057	chr11:10499772-10499773	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs112620519	chr11:10499886-10499887	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs7934815	chr11:10499887-10499888	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546719531	chr11:10499914-10499915	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs3741043	chr11:10499995-10499996	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs535860427	chr11:10499998-10499999	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371548091	chr11:10500047-10500048	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549384468	chr11:10500052-10500053	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569537717	chr11:10500055-10500056	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs73409951	chr11:10500056-10500057	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs369069980	chr11:10500065-10500066	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs139938285	chr11:10500072-10500073	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs558374387	chr11:10500109-10500110	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs201551496	chr11:10500122-10500123	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs149433198	chr11:10500134-10500135	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369104893	chr11:10500150-10500151	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200962440	chr11:10500151-10500152	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372907597	chr11:10500208-10500209	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189709773	chr11:10500214-10500215	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542609298	chr11:10500259-10500260	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs117002871	chr11:10500274-10500275	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs370726090	chr11:10500284-10500285	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs150321693	chr11:10500285-10500286	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs80026347	chr11:10500293-10500294	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373729549	chr11:10500295-10500296	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs564719204	chr11:10500311-10500312	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs36106536	chr11:10500334-10500335	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10473200-10512000	Weak transcription	Aorta	Aorta
2	chr11:10478400-10500000	Weak transcription	Fetal Intestine Small	intestine
3	chr11:10478400-10502800	Weak transcription	Pancreas	Pancrea
4	chr11:10478800-10511600	Weak transcription	Psoas Muscle	Psoas
5	chr11:10479000-10502800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:10479800-10519400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:10483400-10500600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:10484200-10509600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:10484200-10514800	Weak transcription	Colonic Mucosa	Colon
10	chr11:10485000-10515200	Weak transcription	Liver	Liver
11	chr11:10485200-10501000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:10485600-10500400	Weak transcription	Adipose Nuclei	Adipose
13	chr11:10485600-10500800	Weak transcription	Fetal Muscle Leg	muscle
14	chr11:10485600-10508200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:10485800-10511600	Weak transcription	Osteobl	bone
16	chr11:10486000-10504800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:10486200-10501200	Weak transcription	NHEK	skin
18	chr11:10486600-10502600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:10486800-10509600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:10486800-10515600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:10487200-10503000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:10487200-10506200	Weak transcription	Dnd41	blood
23	chr11:10487400-10500400	Weak transcription	Esophagus	oesophagus
24	chr11:10489000-10512600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:10489200-10500000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:10494200-10510000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:10494400-10500200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:10494600-10509600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr11:10495000-10509600	Strong transcription	Primary B cells from cord blood	blood
30	chr11:10495000-10528000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr11:10495200-10510800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:10495200-10530800	Strong transcription	Primary T cells from cord blood	blood
33	chr11:10495400-10509800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:10495400-10511800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:10495600-10510600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:10495600-10516400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:10495800-10500200	Weak transcription	Gastric	stomach
38	chr11:10495800-10529800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:10496000-10503000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:10496200-10509800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:10496400-10505800	Weak transcription	Placenta	Placenta
42	chr11:10496400-10524000	Strong transcription	Primary hematopoietic stem cells	blood
43	chr11:10496600-10499800	Weak transcription	Spleen	Spleen
44	chr11:10496600-10505200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:10496600-10507200	Strong transcription	Fetal Thymus	thymus
46	chr11:10496600-10529000	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:10496800-10500400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:10496800-10501400	Enhancers	Brain Cingulate Gyrus	brain
49	chr11:10497000-10500200	Weak transcription	NHLF	lung
50	chr11:10497200-10500200	Strong transcription	Lung	lung

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