Variant report

Variant	esv3340349
Chromosome Location	chr11:10519876-10524074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:10520228-10520237	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr11:10521120-10521270	HEEpiC	esophagus:	n/a	n/a
3	CTCF	chr11:10521220-10521358	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr11:10520100-10520250	Caco-2	colon:	n/a	n/a
5	CTCF	chr11:10520195-10520249	GM12892	blood:	n/a	n/a
6	CTCF	chr11:10520254-10520260	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:10521140-10521290	GM12872	blood:	n/a	n/a
8	CTCF	chr11:10521841-10521925	GM19239	blood:	n/a	n/a
9	FOS	chr11:10521044-10521143	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr11:10521035-10521144	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr11:10520968-10521116	MCF10A-Er-Src	breast:	n/a	n/a
12	HMGN3	chr11:10522924-10523213	K562	blood:	n/a	n/a
13	MAX	chr11:10522228-10522408	HepG2	liver:	n/a	chr11:10522357-10522366
14	MAX	chr11:10521747-10522099	NB4	blood:	n/a	n/a
15	MYC	chr11:10521820-10521967	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:10521790-10522470	GM12892	blood:	n/a	n/a
17	POLR2A	chr11:10521624-10522895	K562	blood:	n/a	n/a
18	POLR2A	chr11:10521389-10521409	K562	blood:	n/a	n/a
19	POLR2A	chr11:10521600-10521653	K562	blood:	n/a	n/a
20	POLR2A	chr11:10521509-10522339	HL-60	blood:	n/a	n/a
21	POLR2A	chr11:10523880-10523901	K562	blood:	n/a	n/a
22	POLR2A	chr11:10522089-10522418	K562	blood:	n/a	n/a
23	POLR2A	chr11:10521716-10522165	K562	blood:	n/a	n/a
24	POLR2A	chr11:10521919-10522380	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:10522647-10522827	K562	blood:	n/a	n/a
26	POLR2A	chr11:10520144-10520236	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:10520453-10520454	K562	blood:	n/a	n/a
28	POLR2A	chr11:10522012-10522017	Gliobla	brain:	n/a	n/a
29	POLR2A	chr11:10520334-10520517	K562	blood:	n/a	n/a
30	POLR2A	chr11:10523904-10524196	K562	blood:	n/a	n/a
31	POLR2A	chr11:10520211-10520433	K562	blood:	n/a	n/a
32	POLR2A	chr11:10521746-10521890	MCF-7	breast:	n/a	n/a
33	RAD21	chr11:10520000-10520329	H1-hESC	embryonic stem cell:	n/a	chr11:10520248-10520261
34	REST	chr11:10520740-10520868	PFSK-1	brain:	n/a	n/a
35	REST	chr11:10520761-10520847	PFSK-1	brain:	n/a	n/a
36	REST	chr11:10520759-10520847	HepG2	liver:	n/a	n/a
37	REST	chr11:10520732-10520865	H1-hESC	embryonic stem cell:	n/a	n/a
38	REST	chr11:10520729-10520844	GM12878	blood:	n/a	n/a
39	REST	chr11:10520711-10520873	U87	brain:	n/a	n/a
40	REST	chr11:10520732-10520876	H1-hESC	embryonic stem cell:	n/a	n/a
41	SPI1	chr11:10524045-10525096	HL-60	blood:	n/a	chr11:10524913-10524920 chr11:10524664-10524671 chr11:10524912-10524921 chr11:10524529-10524542 chr11:10524909-10524922

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:10518651..10520300-chr11:10520877..10522583,2	K562	blood:
2	chr11:10522129..10523861-chr11:10525994..10530069,4	K562	blood:
3	chr11:10521947..10523857-chr11:10526425..10528003,2	K562	blood:
4	chr11:10518651..10520300-chr11:10520877..10522583,2	K562	blood:

No data

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

Extended variants
information (count: 210 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557625215	chr11:10519879-10519880	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs577417525	chr11:10519883-10519884	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148644495	chr11:10519896-10519897	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553063793	chr11:10519910-10519911	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573031802	chr11:10519914-10519915	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541856884	chr11:10519920-10519921	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs76818541	chr11:10519942-10519943	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs79409603	chr11:10519949-10519950	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544435743	chr11:10519960-10519961	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376731773	chr11:10519961-10519962	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562539488	chr11:10519963-10519964	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564642836	chr11:10519968-10519969	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533583366	chr11:10520004-10520005	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs547250631	chr11:10520022-10520023	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs566550818	chr11:10520035-10520036	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs16907909	chr11:10520036-10520037	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs375315372	chr11:10520045-10520046	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs576353754	chr11:10520057-10520058	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs550690999	chr11:10520059-10520060	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs568842808	chr11:10520061-10520062	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs375474458	chr11:10520111-10520112	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs570635368	chr11:10520123-10520124	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs142143857	chr11:10520155-10520156	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs557651011	chr11:10520185-10520186	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs545367512	chr11:10520192-10520193	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs571072263	chr11:10520216-10520217	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs565098724	chr11:10520267-10520268	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs7937616	chr11:10520276-10520277	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553599669	chr11:10520284-10520285	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs573250032	chr11:10520303-10520304	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs75324607	chr11:10520371-10520372	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs547525774	chr11:10520403-10520404	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs16907914	chr11:10520404-10520405	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575617982	chr11:10520410-10520411	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs544545552	chr11:10520420-10520421	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs184681628	chr11:10520421-10520422	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs578256982	chr11:10520422-10520423	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs540826413	chr11:10520434-10520435	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs115576236	chr11:10520435-10520436	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs34388590	chr11:10520451-10520452	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs528939650	chr11:10520454-10520455	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs189544466	chr11:10520491-10520492	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs549063869	chr11:10520514-10520515	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs192815158	chr11:10520527-10520528	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531349209	chr11:10520540-10520541	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199537156	chr11:10520572-10520573	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144752906	chr11:10520573-10520574	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374995490	chr11:10520574-10520575	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs16907917	chr11:10520575-10520576	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs151281644	chr11:10520637-10520638	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Neuroblastoma	18923524	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10495000-10528000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr11:10495200-10530800	Strong transcription	Primary T cells from cord blood	blood
3	chr11:10495800-10529800	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:10496400-10524000	Strong transcription	Primary hematopoietic stem cells	blood
5	chr11:10496600-10529000	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:10498800-10522000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr11:10498800-10522200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:10499800-10523600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:10501600-10550600	Weak transcription	Small Intestine	intestine
10	chr11:10502200-10522600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:10502600-10529000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:10502600-10560800	Weak transcription	Fetal Brain Male	brain
13	chr11:10507800-10544800	Weak transcription	Fetal Kidney	kidney
14	chr11:10510000-10521800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:10510200-10520000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:10510400-10524800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:10510400-10528200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:10510600-10527800	Strong transcription	Thymus	Thymus
19	chr11:10510800-10528400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:10511000-10529600	Strong transcription	Fetal Thymus	thymus
21	chr11:10511000-10533200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr11:10512000-10522600	Strong transcription	Primary B cells from cord blood	blood
23	chr11:10512400-10526200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:10512400-10526800	Strong transcription	NHEK	skin
25	chr11:10512600-10521200	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:10512600-10521600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:10512600-10522600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:10512600-10523800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr11:10512600-10523800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:10512600-10525400	Weak transcription	GM12878-XiMat	blood
31	chr11:10512800-10521000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:10512800-10521800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:10512800-10526800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:10512800-10531600	Weak transcription	Stomach Mucosa	stomach
35	chr11:10512800-10540400	Weak transcription	Fetal Lung	lung
36	chr11:10512800-10548600	Weak transcription	Right Ventricle	heart
37	chr11:10513000-10520200	Strong transcription	K562	blood
38	chr11:10513000-10521800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:10513000-10525200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:10513000-10526800	Weak transcription	HMEC	breast
41	chr11:10513000-10531800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:10513200-10526000	Weak transcription	Psoas Muscle	Psoas
43	chr11:10513200-10527600	Weak transcription	Right Atrium	heart
44	chr11:10513200-10538000	Weak transcription	Left Ventricle	heart
45	chr11:10513400-10536000	Weak transcription	A549	lung
46	chr11:10513800-10520000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr11:10513800-10528200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:10514000-10520200	Strong transcription	Adipose Nuclei	Adipose
49	chr11:10514000-10527200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:10514200-10524000	Weak transcription	NHDF-Ad	bronchial

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