Variant report

Variant	esv1822544
Chromosome Location	chr11:127631883-127658538
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 945 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:945 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112245709	chr11:127633828-127633829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535692709	chr11:127633832-127633833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555877572	chr11:127633890-127633891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139490937	chr11:127633901-127633902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561465338	chr11:127633913-127633914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189454055	chr11:127633956-127633957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558133772	chr11:127633957-127633958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370635874	chr11:127633988-127633989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577965185	chr11:127634013-127634014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144936798	chr11:127634016-127634017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180797223	chr11:127634088-127634089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562660550	chr11:127634132-127634133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186138260	chr11:127634151-127634152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144221712	chr11:127634177-127634178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546685159	chr11:127634218-127634219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189807910	chr11:127634261-127634262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151053519	chr11:127634295-127634296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547093881	chr11:127634300-127634301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs59298864	chr11:127634311-127634312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181299190	chr11:127634324-127634325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73574585	chr11:127634402-127634403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78825173	chr11:127634408-127634409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570284974	chr11:127634502-127634503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536033836	chr11:127634545-127634546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377266330	chr11:127634567-127634568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529041432	chr11:127634577-127634578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549641698	chr11:127634581-127634582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141000478	chr11:127634589-127634590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535075432	chr11:127634597-127634598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549062181	chr11:127634619-127634620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10893738	chr11:127634691-127634692	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs150127421	chr11:127634736-127634737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186769251	chr11:127634741-127634742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556406720	chr11:127634753-127634754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114266470	chr11:127634772-127634773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541621042	chr11:127634821-127634822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531309101	chr11:127634850-127634851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78182589	chr11:127634870-127634871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538235503	chr11:127634885-127634886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190713254	chr11:127634923-127634924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540690841	chr11:127634932-127634933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557670605	chr11:127634943-127634944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183260761	chr11:127634960-127634961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141385357	chr11:127634997-127634998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549547380	chr11:127635006-127635007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73574588	chr11:127635044-127635045	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs529664141	chr11:127635066-127635067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549705170	chr11:127635067-127635068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566240123	chr11:127635094-127635095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367855335	chr11:127635130-127635131	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Multiple myeloma	17550852	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	20823134	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19571808	CNVD
Multiple myeloma	16616336	CNVD
Myelodysplastic syndrome	18663149	CNVD
Autism	20858243	CNVD
Cancer	20164919	CNVD
Autism	20531469	CNVD
Urothelial carcinoma	21177765	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21045282	CNVD
Glioblastoma	21080181	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:127633800-127634000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:127634000-127638800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:127636400-127636800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr11:127636400-127637000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr11:127636400-127637200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr11:127636600-127636800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr11:127636600-127637000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr11:127636600-127637000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:127636600-127637400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr11:127636600-127637400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:127636600-127637600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:127636600-127637800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr11:127636600-127638600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr11:127636800-127638200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:127637000-127637600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr11:127637000-127638200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:127637000-127638200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:127637000-127639800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:127637200-127638200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:127637400-127638400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:127637600-127638000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:127637600-127638000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:127637800-127644800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:127638000-127638800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr11:127638000-127638800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr11:127638200-127638600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:127638200-127639800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr11:127638200-127640000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr11:127638200-127640400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr11:127638400-127638600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr11:127638600-127639000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr11:127638600-127641200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:127638800-127639600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:127638800-127639600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:127638800-127641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:127639000-127640400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr11:127639600-127639800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr11:127639600-127639800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr11:127639800-127640000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr11:127639800-127645200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:127639800-127645400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:127639800-127645800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:127640000-127643600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:127640400-127641800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr11:127640400-127645000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:127641200-127641400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:127641200-127642000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:127641400-127643600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:127641800-127642200	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr11:127642000-127642400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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