Variant report

Variant	esv3376837
Chromosome Location	chr11:120860642-120865340
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	chr11:120855990..120858332-chr11:120862136..120864842,2	K562	blood:
2	chr11:120858835..120862503-chr11:120866353..120869224,3	K562	blood:

Extended variants
information (count: 175 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:175 , 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	rs368261117	chr11:120860642-120860643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377292084	chr11:120860644-120860645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539137705	chr11:120860668-120860669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11606348	chr11:120860672-120860673	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569288610	chr11:120860713-120860714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536683158	chr11:120860733-120860734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs598582	chr11:120860814-120860815	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs573923290	chr11:120860835-120860836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540856130	chr11:120860943-120860944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186024843	chr11:120860977-120860978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530750310	chr11:120860990-120860991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544727179	chr11:120860994-120860995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191437608	chr11:120861044-120861045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143273817	chr11:120861055-120861056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542636125	chr11:120861073-120861074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565597	chr11:120861094-120861095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs116477691	chr11:120861109-120861110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147353092	chr11:120861110-120861111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs596869	chr11:120861145-120861146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542605159	chr11:120861172-120861173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532616296	chr11:120861232-120861233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551078515	chr11:120861270-120861271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs478015	chr11:120861279-120861280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560749520	chr11:120861352-120861353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184068401	chr11:120861384-120861385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs595851	chr11:120861385-120861386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs567405144	chr11:120861388-120861389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534924371	chr11:120861399-120861400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552724577	chr11:120861432-120861433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150348641	chr11:120861471-120861472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374621826	chr11:120861472-120861473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71473179	chr11:120861478-120861479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201346561	chr11:120861498-120861499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577433583	chr11:120861499-120861500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188622744	chr11:120861559-120861560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556617655	chr11:120861580-120861581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528173589	chr11:120861620-120861621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556545592	chr11:120861630-120861631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374701454	chr11:120861640-120861641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182203387	chr11:120861644-120861645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574206799	chr11:120861663-120861664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528751769	chr11:120861682-120861683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540942912	chr11:120861736-120861737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187112114	chr11:120861743-120861744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs137903726	chr11:120861808-120861809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551240836	chr11:120861891-120861892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553878233	chr11:120861905-120861906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571758055	chr11:120861921-120861922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569240532	chr11:120861929-120861930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs582800	chr11:120861967-120861968	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:98)

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
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
Glioblastoma multiforme	21080181	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	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
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
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
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120857200-120862600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:120857800-120860800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr11:120858000-120868800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:120858400-120860800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr11:120859200-120860800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:120859200-120861000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:120860200-120860800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr11:120860400-120861600	Weak transcription	Fetal Lung	lung
9	chr11:120860400-120864200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:120860400-120864400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:120860400-120868000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:120860600-120862600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:120860600-120863600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:120860800-120864000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:120861000-120864200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:120861400-120862600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:120861600-120863600	Enhancers	Fetal Lung	lung
18	chr11:120862600-120862800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:120862600-120862800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:120862600-120862800	Enhancers	Lung	lung
21	chr11:120862600-120863000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:120862600-120863000	Bivalent Enhancer	Fetal Brain Male	brain
23	chr11:120862600-120864600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:120862800-120864000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:120863000-120863200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:120863600-120864400	Weak transcription	Fetal Lung	lung
27	chr11:120863600-120864800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:120864000-120864200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:120864000-120864600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr11:120864200-120864600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr11:120864200-120864600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr11:120864200-120865000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr11:120864400-120865000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr11:120864400-120865000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:120864400-120865200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr11:120864400-120865400	Enhancers	Primary hematopoietic stem cells	blood
37	chr11:120864400-120865600	Enhancers	Fetal Lung	lung
38	chr11:120864400-120865800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:120864600-120866800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:120864600-120874400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:120864800-120865000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:120864800-120869000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:120865000-120865400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:120865000-120874200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:120865000-120874600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr11:120865200-120868800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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