Variant report

Variant	esv11137
Chromosome Location	chr11:36730247-36788022
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:36772768..36775100-chr11:36777744..36780242,2	K562	blood:
2	chr11:36784007..36786954-chr11:36790139..36792736,2	MCF-7	breast:
3	chr11:36724082..36725333-chr11:36765913..36767362,6	MCF-7	breast:
4	chr11:36724020..36724871-chr11:36765820..36767130,6	MCF-7	breast:
5	chr1:48802634..48803290-chr11:36761642..36762449,2	MCF-7	breast:
6	chr11:36724006..36724837-chr11:36767791..36768301,2	MCF-7	breast:
7	chr11:36768324..36768860-chr16:67850405..67851033,2	MCF-7	breast:
8	chr11:36760152..36763496-chr11:36764810..36767505,3	K562	blood:
9	chr11:36723925..36724827-chr11:36768344..36769277,7	MCF-7	breast:
10	chr11:36772270..36775146-chr11:36778042..36780979,2	MCF-7	breast:
11	chr11:36585718..36586807-chr11:36768335..36769499,7	MCF-7	breast:
12	chr11:36778500..36779382-chr2:172367393..172368075,2	MCF-7	breast:
13	chr11:36531321..36532055-chr11:36768370..36769234,2	K562	blood:
14	chr11:36723937..36724844-chr11:36768321..36769390,6	K562	blood:
15	chr11:36585768..36586611-chr11:36768401..36769196,4	K562	blood:
16	chr11:36585872..36586620-chr11:36765861..36766774,5	MCF-7	breast:
17	chr11:36586002..36586650-chr11:36768339..36769255,5	MCF-7	breast:
18	chr11:36723787..36725644-chr11:36767836..36769642,23	MCF-7	breast:
19	chr11:36723701..36725897-chr11:36768513..36770363,2	K562	blood:
20	chr11:36536866..36537854-chr11:36768352..36769212,2	MCF-7	breast:
21	chr11:36773100..36776427-chr11:36776879..36779629,3	K562	blood:
22	chr11:36772270..36775146-chr11:36778042..36780979,2	MCF-7	breast:
23	chr11:36773100..36776427-chr11:36776879..36779629,3	K562	blood:
24	chr11:36724313..36724958-chr11:36765739..36766377,3	K562	blood:
25	chr11:36768357..36769346-chr11:36839767..36840522,2	MCF-7	breast:
26	chr11:36531416..36532018-chr11:36768557..36769184,2	MCF-7	breast:
27	chr11:36768499..36769405-chr7:29306639..29307162,2	MCF-7	breast:
28	chr11:36722899..36725054-chr11:36764886..36767764,2	MCF-7	breast:
29	chr11:36710108..36712201-chr11:36728263..36730385,2	K562	blood:
30	chr11:36772768..36775100-chr11:36777744..36780242,2	K562	blood:
31	chr11:36760152..36763496-chr11:36764810..36767505,3	K562	blood:
32	chr11:36588028..36588693-chr11:36768352..36768969,2	MCF-7	breast:
33	chr11:36778255..36778775-chr8:120867803..120868704,2	HCT-116	colon:
34	chr11:36588187..36588912-chr11:36768353..36769303,3	MCF-7	breast:
35	chr11:36313572..36314458-chr11:36768376..36769407,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166349	chromatin interactions
ENSG00000175104	chromatin interactions
ENSG00000136982	chromatin interactions

Extended variants
information (count: 2208 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2208 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150372747	chr11:36730252-36730253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138070250	chr11:36730273-36730274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550090166	chr11:36730354-36730355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189899499	chr11:36730454-36730455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181440626	chr11:36730465-36730466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552313817	chr11:36730547-36730548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543739864	chr11:36730575-36730576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537968578	chr11:36730664-36730665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565757253	chr11:36730665-36730666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571272603	chr11:36730666-36730667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534250849	chr11:36730667-36730668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547493028	chr11:36730668-36730669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567310131	chr11:36730671-36730672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs397848559	chr11:36730672-36730673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79773368	chr11:36730673-36730674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111907255	chr11:36730678-36730679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184032062	chr11:36730700-36730701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188377435	chr11:36730713-36730714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536291277	chr11:36730860-36730861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1533588	chr11:36730884-36730885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs144653821	chr11:36730885-36730886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538981732	chr11:36730893-36730894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559081842	chr11:36730908-36730909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572557092	chr11:36730960-36730961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148116245	chr11:36730964-36730965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566117697	chr11:36731052-36731053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561007695	chr11:36731122-36731123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574482864	chr11:36731125-36731126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180841083	chr11:36731189-36731190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563286703	chr11:36731198-36731199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577223434	chr11:36732844-36732845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116332361	chr11:36732881-36732882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61880069	chr11:36732895-36732896	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs7115697	chr11:36732916-36732917	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs548907145	chr11:36732972-36732973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73439983	chr11:36732989-36732990	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs537686526	chr11:36732990-36732991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149880010	chr11:36733012-36733013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570485853	chr11:36733036-36733037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539537699	chr11:36733043-36733044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144886650	chr11:36733098-36733099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187543438	chr11:36733112-36733113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535326737	chr11:36733138-36733139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555284055	chr11:36733165-36733166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112711115	chr11:36733188-36733189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs193280195	chr11:36733204-36733205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11033754	chr11:36733258-36733259	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs562193900	chr11:36733277-36733278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7130556	chr11:36733298-36733299	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs372113919	chr11:36733314-36733315	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
WAGR syndrome	19222835	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	21829676	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36722200-36731000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:36731000-36731200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:36732800-36733600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr11:36733600-36734000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:36734000-36736400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr11:36735200-36735800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr11:36735200-36736200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:36735200-36736200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:36735200-36736200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr11:36735400-36736000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:36735400-36736200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:36736400-36744000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:36737800-36738000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr11:36738600-36741200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr11:36738800-36739200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
16	chr11:36739000-36739600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
17	chr11:36739000-36740200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr11:36739000-36741400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
19	chr11:36739200-36742000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr11:36739400-36739600	Enhancers	Fetal Stomach	stomach
21	chr11:36739400-36739800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
22	chr11:36739400-36740200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr11:36739600-36739800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
24	chr11:36739600-36739800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
25	chr11:36739600-36739800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
26	chr11:36739600-36739800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:36739600-36739800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:36739600-36740600	Enhancers	Fetal Lung	lung
29	chr11:36739600-36740800	Weak transcription	Fetal Stomach	stomach
30	chr11:36739800-36740000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr11:36739800-36740200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
32	chr11:36739800-36740400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
33	chr11:36739800-36740800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:36739800-36742000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:36740000-36740200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr11:36740200-36740600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr11:36740200-36741200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
38	chr11:36740200-36741400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr11:36740400-36740600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
40	chr11:36740600-36741200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr11:36740600-36741600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
42	chr11:36740800-36741400	Enhancers	Fetal Stomach	stomach
43	chr11:36740800-36741600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:36741000-36741600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
45	chr11:36741000-36741800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
46	chr11:36741000-36741800	Enhancers	Ovary	ovary
47	chr11:36741200-36741400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr11:36741200-36741400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:36741200-36742800	Weak transcription	Thymus	Thymus
50	chr11:36741400-36744400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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