Variant report

Variant	esv2761662
Chromosome Location	chr11:36429857-36434542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:36432655..36434682-chr11:36437304..36439623,2	K562	blood:
2	chr11:36432298..36434335-chr11:36439830..36441750,2	K562	blood:
3	chr11:36432501..36434246-chr11:36442338..36444522,2	K562	blood:
4	chr11:36429857..36432572-chr11:36436578..36438968,2	K562	blood:

Extended variants
information (count: 190 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:190 , 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	rs11033596	chr11:36429857-36429858	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11033597	chr11:36429876-36429877	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573407687	chr11:36429882-36429883	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113026157	chr11:36429909-36429910	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192763322	chr11:36429912-36429913	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11033598	chr11:36429917-36429918	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543853948	chr11:36429957-36429958	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10645497	chr11:36429963-36429964	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370014942	chr11:36429964-36429965	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs397946288	chr11:36429966-36429967	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373039037	chr11:36429994-36429995	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183718731	chr11:36430024-36430025	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563313392	chr11:36430046-36430047	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532755817	chr11:36430081-36430082	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546694232	chr11:36430082-36430083	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11033599	chr11:36430089-36430090	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs529136161	chr11:36430095-36430096	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542471204	chr11:36430096-36430097	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188083556	chr11:36430116-36430117	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368989631	chr11:36430123-36430124	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538139365	chr11:36430140-36430141	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7122435	chr11:36430147-36430148	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs11033600	chr11:36430169-36430170	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539423222	chr11:36430208-36430209	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs115942509	chr11:36430274-36430275	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs7122699	chr11:36430307-36430308	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542061416	chr11:36430354-36430355	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs555539444	chr11:36430375-36430376	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs575390616	chr11:36430410-36430411	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs544518353	chr11:36430416-36430417	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs138520225	chr11:36430438-36430439	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs149276876	chr11:36430454-36430455	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs373063026	chr11:36430461-36430462	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs564966221	chr11:36430470-36430471	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs528993720	chr11:36430492-36430493	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs549051934	chr11:36430526-36430527	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs143480462	chr11:36430528-36430529	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs531500826	chr11:36430548-36430549	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs551676032	chr11:36430611-36430612	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs74688172	chr11:36430658-36430659	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs11033601	chr11:36430711-36430712	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs182001925	chr11:36430736-36430737	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs148036869	chr11:36430745-36430746	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs568837416	chr11:36430746-36430747	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs566672887	chr11:36430785-36430786	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs373529799	chr11:36430817-36430818	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs77190366	chr11:36430848-36430849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs555405357	chr11:36430859-36430860	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs142511986	chr11:36430876-36430877	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs538025086	chr11:36430886-36430887	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD

Chromatin state (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:36400600-36431200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:36400800-36443600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:36402000-36431800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:36403000-36438200	Weak transcription	Ovary	ovary
6	chr11:36407200-36441800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:36408400-36433000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:36409800-36430000	Weak transcription	Liver	Liver
9	chr11:36413000-36471000	Weak transcription	Aorta	Aorta
10	chr11:36413200-36441600	Weak transcription	HSMMtube	muscle
11	chr11:36413400-36430000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:36416600-36431600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:36418200-36436800	Weak transcription	Pancreas	Pancrea
15	chr11:36419600-36430000	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr11:36420200-36431800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:36420200-36434800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:36420200-36434800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:36420400-36430600	Weak transcription	Lung	lung
20	chr11:36420400-36453200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:36420600-36435200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:36420600-36435200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:36421400-36432400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:36421400-36435000	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:36421800-36432600	Weak transcription	Brain Anterior Caudate	brain
26	chr11:36422400-36430600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:36422800-36430000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:36423000-36430000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:36423000-36432000	Weak transcription	Right Ventricle	heart
30	chr11:36423400-36441800	Weak transcription	HMEC	breast
31	chr11:36424200-36431200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:36424800-36430600	Weak transcription	Left Ventricle	heart
33	chr11:36425000-36431800	Weak transcription	Esophagus	oesophagus
34	chr11:36425600-36430200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr11:36425800-36430000	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:36425800-36430000	Weak transcription	Spleen	Spleen
37	chr11:36425800-36430200	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr11:36425800-36432400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr11:36425800-36439000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:36425800-36441400	Weak transcription	Fetal Kidney	kidney
41	chr11:36426200-36435200	Strong transcription	Fetal Intestine Small	intestine
42	chr11:36426400-36430600	Weak transcription	Fetal Stomach	stomach
43	chr11:36426400-36434400	Weak transcription	HSMM	muscle
44	chr11:36426400-36435200	Strong transcription	Fetal Intestine Large	intestine
45	chr11:36426600-36430000	Weak transcription	Fetal Lung	lung
46	chr11:36426600-36430600	Weak transcription	Right Atrium	heart
47	chr11:36426600-36431600	Weak transcription	Small Intestine	intestine
48	chr11:36426800-36430000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr11:36427200-36430600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:36427400-36434200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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