Variant report

Variant	esv3356576
Chromosome Location	chr11:94396904-94400502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:94393858..94398288-chr11:94398504..94402115,4	K562	blood:
2	chr11:94390356..94393073-chr11:94395941..94399822,3	K562	blood:
3	chr11:94393858..94398288-chr11:94398504..94402115,4	K562	blood:
4	chr11:94396012..94398288-chr11:94399899..94402115,2	K562	blood:
5	chr11:94368321..94373611-chr11:94398566..94402390,4	K562	blood:
6	chr11:94396012..94398288-chr11:94399899..94402115,2	K562	blood:
7	chr11:94389844..94391856-chr11:94396881..94399230,2	K562	blood:

Variant related genes	Relation type
ENSG00000233536	chromatin interactions

Extended variants
information (count: 153 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:153 , 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	rs189088172	chr11:94396904-94396905	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540104989	chr11:94396932-94396933	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs16920838	chr11:94396965-94396966	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11607330	chr11:94396976-94396977	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139515713	chr11:94396991-94396992	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537752774	chr11:94396992-94396993	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556394451	chr11:94397019-94397020	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574110308	chr11:94397035-94397036	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144234404	chr11:94397061-94397062	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79214641	chr11:94397107-94397108	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192809139	chr11:94397118-94397119	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545843203	chr11:94397122-94397123	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10831261	chr11:94397142-94397143	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs147348727	chr11:94397157-94397158	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529416462	chr11:94397219-94397220	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140524571	chr11:94397233-94397234	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550224776	chr11:94397247-94397248	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184385554	chr11:94397285-94397286	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377384704	chr11:94397343-94397344	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549352405	chr11:94397409-94397410	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370676689	chr11:94397421-94397422	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533080340	chr11:94397451-94397452	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs473566	chr11:94397495-94397496	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529587259	chr11:94397497-94397498	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547856479	chr11:94397611-94397612	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562892211	chr11:94397624-94397625	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73520201	chr11:94397637-94397638	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561886	chr11:94397663-94397664	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs552034578	chr11:94397723-94397724	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551805308	chr11:94397754-94397755	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374966720	chr11:94397783-94397784	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570576745	chr11:94397789-94397790	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538009369	chr11:94397826-94397827	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571874648	chr11:94397843-94397844	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555923811	chr11:94397893-94397894	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534400234	chr11:94397952-94397953	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11020882	chr11:94397996-94397997	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs367917114	chr11:94398004-94398005	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114787102	chr11:94398007-94398008	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372121979	chr11:94398011-94398012	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547714935	chr11:94398051-94398052	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4127395	chr11:94398136-94398137	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs139419552	chr11:94398137-94398138	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564176681	chr11:94398142-94398143	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58248484	chr11:94398161-94398162	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs76731782	chr11:94398176-94398177	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189280636	chr11:94398199-94398200	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4127396	chr11:94398201-94398202	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs375845601	chr11:94398206-94398207	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548066779	chr11:94398262-94398263	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Chronic lymphocytic leukemia	21670202	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94384600-94404600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:94391000-94404600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:94392200-94398000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:94395400-94410800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:94395600-94397400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:94395800-94399200	Enhancers	Placenta	Placenta
7	chr11:94396000-94397400	Weak transcription	NHEK	skin
8	chr11:94396000-94397600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:94396000-94397600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:94396000-94404600	Weak transcription	Gastric	stomach
11	chr11:94396200-94397000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:94396400-94397000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr11:94396400-94397000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr11:94396400-94397000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:94396400-94397200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr11:94396400-94397800	Genic enhancers	H9 Cell Line	embryonic stem cell
17	chr11:94396400-94397800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:94396400-94398800	Enhancers	Hela-S3	cervix
19	chr11:94396400-94404600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:94396600-94397000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr11:94396800-94398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:94396800-94400600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:94397000-94397400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:94397000-94398000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:94397000-94400000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:94397000-94400400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:94397200-94397600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:94397400-94398000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:94397400-94398000	Enhancers	HMEC	breast
30	chr11:94397400-94398000	Enhancers	NHEK	skin
31	chr11:94397400-94398200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:94397400-94398600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr11:94397600-94397800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:94397600-94397800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr11:94397600-94397800	Enhancers	Esophagus	oesophagus
36	chr11:94397600-94398000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
37	chr11:94397600-94398000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:94397600-94398000	Enhancers	Fetal Muscle Leg	muscle
39	chr11:94397600-94398000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr11:94397600-94398800	Enhancers	Fetal Intestine Large	intestine
41	chr11:94397600-94398800	Enhancers	Pancreas	Pancrea
42	chr11:94397600-94399200	Enhancers	Fetal Intestine Small	intestine
43	chr11:94397800-94398200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:94397800-94403600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:94398000-94398200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr11:94398000-94398200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:94398000-94398400	Weak transcription	Fetal Muscle Leg	muscle
48	chr11:94398000-94398800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:94398000-94398800	Weak transcription	HMEC	breast
50	chr11:94398000-94401000	Weak transcription	Esophagus	oesophagus

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