Variant report

Variant	esv3339108
Chromosome Location	chr11:36371401-36374249
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	chr11:36371300-36371450	HCPEpiC	choroid plexus:	n/a	n/a
2	CTCF	chr11:36371320-36371470	HCPEpiC	choroid plexus:	n/a	n/a
3	CTCF	chr11:36371300-36371450	HPAF	blood vessel:	n/a	n/a
4	CTCF	chr11:36374200-36374350	GM12874	blood:	n/a	n/a
5	CTCF	chr11:36371340-36371490	HPAF	blood vessel:	n/a	n/a
6	EGR1	chr11:36371556-36371930	K562	blood:	n/a	chr11:36371909-36371918
7	EGR1	chr11:36371574-36371771	GM12878	blood:	n/a	n/a
8	SPI1	chr11:36371765-36372005	HL-60	blood:	n/a	chr11:36371905-36371918 chr11:36371906-36371919

Variant related genes	Relation type
PRR5L	TF binding region

Extended variants
information (count: 161 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545885158	chr11:36371405-36371406	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs116043673	chr11:36371409-36371410	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs182744781	chr11:36371426-36371427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4376880	chr11:36371492-36371493	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs143055043	chr11:36371502-36371503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530150722	chr11:36371522-36371523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549919694	chr11:36371541-36371542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554455108	chr11:36371555-36371556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115622361	chr11:36371592-36371593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538770631	chr11:36371632-36371633	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs191318	chr11:36371634-36371635	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs5024748	chr11:36371664-36371665	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12806623	chr11:36371667-36371668	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs12807155	chr11:36371707-36371708	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs534868307	chr11:36371722-36371723	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs11608070	chr11:36371747-36371748	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs2592555	chr11:36371757-36371758	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs575039234	chr11:36371758-36371759	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs537702826	chr11:36371768-36371769	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs12099418	chr11:36371778-36371779	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs576871029	chr11:36371809-36371810	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs147455221	chr11:36371812-36371813	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs111303388	chr11:36371841-36371842	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs574950893	chr11:36371845-36371846	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs200266364	chr11:36371848-36371849	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs559466842	chr11:36371860-36371861	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs112353427	chr11:36371865-36371866	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs2912119	chr11:36371876-36371877	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs542038187	chr11:36371903-36371904	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs11603868	chr11:36371980-36371981	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530720994	chr11:36372030-36372031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550826005	chr11:36372041-36372042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372697166	chr11:36372105-36372106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188326794	chr11:36372188-36372189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532357568	chr11:36372190-36372191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115003201	chr11:36372197-36372198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561335435	chr11:36372212-36372213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565833832	chr11:36372257-36372258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534753337	chr11:36372268-36372269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377574599	chr11:36372274-36372275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548498851	chr11:36372298-36372299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529002245	chr11:36372303-36372304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568610735	chr11:36372306-36372307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564260016	chr11:36372401-36372402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531566926	chr11:36372407-36372408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs118029341	chr11:36372412-36372413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112013938	chr11:36372432-36372433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539435170	chr11:36372435-36372436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113066859	chr11:36372460-36372461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191067407	chr11:36372477-36372478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
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
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36364400-36381800	Weak transcription	Brain Angular Gyrus	brain
2	chr11:36365200-36374000	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:36365200-36374200	Weak transcription	Brain Substantia Nigra	brain
4	chr11:36367000-36375800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:36367400-36371800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:36367400-36375200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:36367400-36375600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:36367400-36375800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:36367400-36381200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:36367600-36375800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:36367800-36375800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:36369400-36371800	Weak transcription	Gastric	stomach
13	chr11:36369400-36374200	Weak transcription	GM12878-XiMat	blood
14	chr11:36369600-36375400	Weak transcription	Fetal Intestine Small	intestine
15	chr11:36370800-36371600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:36371000-36371600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:36371000-36372000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:36371000-36372000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:36371000-36372000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:36371000-36372000	Enhancers	Adipose Nuclei	Adipose
21	chr11:36371000-36372000	Enhancers	HUVEC	blood vessel
22	chr11:36371200-36371600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:36371200-36371600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr11:36371200-36371600	Enhancers	Brain Anterior Caudate	brain
25	chr11:36371200-36371600	Enhancers	Fetal Intestine Large	intestine
26	chr11:36371400-36371600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr11:36371400-36374000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:36371400-36376200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:36371400-36376600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:36371600-36372000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
31	chr11:36371600-36373600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:36371600-36374200	Weak transcription	Brain Anterior Caudate	brain
33	chr11:36371600-36375400	Weak transcription	Fetal Intestine Large	intestine
34	chr11:36371800-36372000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:36371800-36372000	Enhancers	Gastric	stomach
36	chr11:36371800-36372000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr11:36372000-36374200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr11:36372000-36374200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:36372000-36376200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:36372600-36373400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr11:36373400-36374400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr11:36373400-36374400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr11:36373600-36374000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr11:36373800-36376000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:36373800-36376800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:36374000-36374200	Enhancers	Hela-S3	cervix
47	chr11:36374000-36374400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:36374000-36374600	Enhancers	Primary T cells from cord blood	blood
49	chr11:36374000-36374600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr11:36374000-36375000	Bivalent Enhancer	Fetal Thymus	thymus

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