Variant report

Variant	esv3427125
Chromosome Location	chr11:119516942-119521140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119513079..119515723-chr11:119516167..119519482,3	K562	blood:

Extended variants
information (count: 227 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:227 , 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	rs574262465	chr11:119516993-119516994	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541680454	chr11:119516997-119516998	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560282410	chr11:119517007-119517008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189606672	chr11:119517013-119517014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570548192	chr11:119517130-119517131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545585872	chr11:119517137-119517138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564071432	chr11:119517144-119517145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555624082	chr11:119517156-119517157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79849521	chr11:119517217-119517218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549634705	chr11:119517247-119517248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182539430	chr11:119517328-119517329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538081332	chr11:119517329-119517330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556104835	chr11:119517343-119517344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574838295	chr11:119517435-119517436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11217371	chr11:119517449-119517450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547228864	chr11:119517486-119517487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377499204	chr11:119517495-119517496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533417258	chr11:119517499-119517500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551593578	chr11:119517557-119517558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74370577	chr11:119517586-119517587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553702011	chr11:119517596-119517597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537078780	chr11:119517597-119517598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556081763	chr11:119517626-119517627	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs116920801	chr11:119517635-119517636	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs568002157	chr11:119517643-119517644	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs4938702	chr11:119517681-119517682	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs375730636	chr11:119517697-119517698	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs553561033	chr11:119517705-119517706	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs578119034	chr11:119517754-119517755	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs377166610	chr11:119517756-119517757	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs557586510	chr11:119517806-119517807	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs575968981	chr11:119517846-119517847	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs75964380	chr11:119517865-119517866	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs561638064	chr11:119517871-119517872	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs529195720	chr11:119517872-119517873	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs540930168	chr11:119517874-119517875	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs559457301	chr11:119517892-119517893	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs71048095	chr11:119517902-119517903	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs58590467	chr11:119517926-119517927	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs72464262	chr11:119517933-119517934	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs201288840	chr11:119517940-119517941	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs56196129	chr11:119517941-119517942	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs68148812	chr11:119517944-119517945	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs75244638	chr11:119517964-119517965	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs551831731	chr11:119517985-119517986	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs570087410	chr11:119517997-119517998	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs12797352	chr11:119518006-119518007	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs564835041	chr11:119518053-119518054	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs147126663	chr11:119518092-119518093	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs73004956	chr11:119518158-119518159	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	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
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Emanuel syndrome	21549014	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Ovarian neoplasms	16753589	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Retinoblastoma	22278416	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	17142309	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119510600-119518400	Enhancers	Fetal Muscle Leg	muscle
2	chr11:119511400-119517600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:119512600-119518800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:119514800-119517800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:119514800-119520400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:119515000-119517000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr11:119515000-119517800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:119516400-119517200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:119516400-119517600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:119517600-119517800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:119517600-119518000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:119517600-119518400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr11:119517600-119518400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr11:119517600-119518400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:119517600-119518400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:119517600-119518400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:119517600-119518400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr11:119517800-119518200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:119517800-119518200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr11:119517800-119518400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:119518000-119518200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr11:119518000-119518400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr11:119518000-119519400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:119518200-119520400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:119518200-119522800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:119518400-119520800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr11:119518400-119521000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:119518400-119522400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:119518400-119522400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:119518400-119522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:119518800-119519000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
32	chr11:119519000-119520800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr11:119520400-119521400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr11:119520400-119523000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:119520600-119523400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr11:119520800-119521400	Enhancers	H9 Cell Line	embryonic stem cell
37	chr11:119520800-119522000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr11:119521000-119521400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr11:119521000-119521600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr11:119521000-119523000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:119521000-119523000	Enhancers	HUES6 Cell Line	embryonic stem cell

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