Variant report

Variant	nsv555965
Chromosome Location	chr11:93713911-93747735
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:93721682-93722075	K562	blood:	n/a	n/a
2	ARID3A	chr11:93727028-93727190	K562	blood:	n/a	n/a
3	ATF1	chr11:93721674-93721940	K562	blood:	n/a	n/a
4	CBX3	chr11:93726833-93727334	HCT-116	colon:	n/a	n/a
5	CBX3	chr11:93726896-93727284	K562	blood:	n/a	n/a
6	CBX3	chr11:93726921-93727267	K562	blood:	n/a	n/a
7	CEBPB	chr11:93714990-93715302	K562	blood:	n/a	n/a
8	CEBPB	chr11:93719621-93720399	MCF-7	breast:	n/a	chr11:93720347-93720358
9	CEBPB	chr11:93727075-93727168	K562	blood:	n/a	n/a
10	CEBPB	chr11:93719913-93720314	ECC-1	luminal epithelium:	n/a	n/a
11	CEBPB	chr11:93720010-93720249	A549	lung:	n/a	n/a
12	CEBPB	chr11:93720025-93720150	K562	blood:	n/a	n/a
13	CEBPB	chr11:93719980-93720265	HepG2	liver:	n/a	n/a
14	CEBPB	chr11:93719859-93720332	A549	lung:	n/a	n/a
15	CEBPB	chr11:93719839-93720358	ECC-1	luminal epithelium:	n/a	chr11:93720347-93720358
16	CEBPB	chr11:93719585-93720365	MCF-7	breast:	n/a	chr11:93720347-93720358
17	CTCF	chr11:93747224-93747262	GM20000	blood:	n/a	n/a
18	CTCF	chr11:93730881-93730959	GM20000	blood:	n/a	n/a
19	CTCF	chr11:93735524-93735619	NHEK	skin:	n/a	n/a
20	CTCF	chr11:93741560-93741710	GM12865	blood:	n/a	chr11:93741566-93741579
21	CUX1	chr11:93727058-93727101	K562	blood:	n/a	n/a
22	CUX1	chr11:93721685-93721987	K562	blood:	n/a	n/a
23	E2F4	chr11:93735685-93735873	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr11:93727099-93727211	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F6	chr11:93730702-93731076	H1-hESC	embryonic stem cell:	n/a	n/a
26	E2F6	chr11:93730739-93731073	H1-hESC	embryonic stem cell:	n/a	n/a
27	ELF1	chr11:93721685-93721856	K562	blood:	n/a	n/a
28	EP300	chr11:93719837-93720309	ECC-1	luminal epithelium:	n/a	chr11:93720282-93720296 chr11:93720010-93720019 chr11:93719949-93719958 chr11:93720286-93720295
29	EP300	chr11:93719730-93720399	T-47D	breast:	n/a	chr11:93720282-93720296 chr11:93720010-93720019 chr11:93719949-93719958 chr11:93720286-93720295
30	EP300	chr11:93721651-93722201	K562	blood:	n/a	n/a
31	EP300	chr11:93727124-93727160	GM12878	blood:	n/a	n/a
32	EP300	chr11:93716728-93717067	K562	blood:	n/a	n/a
33	EP300	chr11:93719846-93720314	T-47D	breast:	n/a	chr11:93720282-93720296 chr11:93720010-93720019 chr11:93719949-93719958 chr11:93720286-93720295
34	EP300	chr11:93719553-93720327	MCF-7	breast:	n/a	chr11:93720282-93720296 chr11:93720010-93720019 chr11:93719949-93719958 chr11:93720286-93720295
35	ESR1	chr11:93719581-93720238	ECC-1	luminal epithelium:	n/a	chr11:93719766-93719783
36	ESR1	chr11:93719587-93720209	ECC-1	luminal epithelium:	n/a	chr11:93719766-93719783
37	ESR1	chr11:93719586-93720163	ECC-1	luminal epithelium:	n/a	chr11:93719766-93719783
38	ESR1	chr11:93719636-93719999	T-47D	breast:	n/a	chr11:93719766-93719783
39	ESR1	chr11:93719540-93720256	T-47D	breast:	n/a	chr11:93719766-93719783
40	ESR1	chr11:93719578-93720236	T-47D	breast:	n/a	chr11:93719766-93719783
41	ESR1	chr11:93719686-93719864	ECC-1	luminal epithelium:	n/a	chr11:93719766-93719783
42	ESR1	chr11:93719587-93720022	T-47D	breast:	n/a	chr11:93719766-93719783
43	ESR1	chr11:93719593-93719990	ECC-1	luminal epithelium:	n/a	chr11:93719766-93719783
44	ESR1	chr11:93719646-93720315	ECC-1	luminal epithelium:	n/a	chr11:93719766-93719783
45	FOS	chr11:93719320-93720318	MCF10A-Er-Src	breast:	n/a	chr11:93720008-93720020 chr11:93720284-93720293 chr11:93720010-93720018 chr11:93720009-93720019 chr11:93720010-93720017
46	FOS	chr11:93719473-93720295	MCF10A-Er-Src	breast:	n/a	chr11:93720008-93720020 chr11:93720284-93720293 chr11:93720010-93720018 chr11:93720009-93720019 chr11:93720010-93720017
47	FOS	chr11:93733785-93734561	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr11:93717578-93717614	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr11:93733903-93734130	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr11:93733888-93734118	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:93710641..93713058-chr11:93716292..93719864,4	K562	blood:
2	chr11:93724420..93726827-chr11:93860849..93862959,2	MCF-7	breast:
3	chr11:93725136..93726953-chr11:93730088..93732138,2	K562	blood:
4	chr11:93710641..93712864-chr11:93716292..93719148,2	K562	blood:
5	chr11:93718444..93721972-chr11:93724685..93727460,3	K562	blood:
6	chr11:93730828..93732331-chr11:93734323..93737196,2	MCF-7	breast:
7	chr11:93720101..93721932-chr11:93723597..93725188,2	MCF-7	breast:
8	chr11:93718251..93719933-chr11:93722882..93724386,2	K562	blood:
9	chr11:93699154..93702139-chr11:93715372..93717196,2	K562	blood:
10	chr11:93718444..93721972-chr11:93724685..93727460,3	K562	blood:
11	chr11:93741108..93743362-chr11:93748550..93751276,2	K562	blood:
12	chr11:93715164..93717058-chr11:93768133..93770763,2	K562	blood:
13	chr11:93725136..93726953-chr11:93730088..93732138,2	K562	blood:
14	chr11:93718654..93721406-chr11:93860779..93862683,2	MCF-7	breast:
15	chr11:93730828..93732331-chr11:93734323..93737196,2	MCF-7	breast:
16	chr11:93718251..93719933-chr11:93722882..93724386,2	K562	blood:
17	chr11:93710125..93711813-chr11:93711990..93713968,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VSTM5-2	chr11:93731809-93732384	NONHSAT023700

Variant related genes	Relation type
HPRTP3	TF binding region
HPRTP4	TF binding region
ENSG00000110218	chromatin interactions
ENSG00000255995	chromatin interactions

Extended variants
information (count: 1124 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1124 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12222414	chr11:93713911-93713912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372504242	chr11:93713971-93713972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148033087	chr11:93713977-93713978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56238323	chr11:93713978-93713979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116553380	chr11:93713986-93713987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562853619	chr11:93713992-93713993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575237819	chr11:93713996-93713997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542175854	chr11:93714039-93714040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560799248	chr11:93714040-93714041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2460058	chr11:93714059-93714060	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs181183903	chr11:93714090-93714091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557787984	chr11:93714126-93714127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571512240	chr11:93714141-93714142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369463487	chr11:93714144-93714145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564682307	chr11:93714154-93714155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140778363	chr11:93714178-93714179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377085984	chr11:93714179-93714180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533035668	chr11:93714202-93714203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550190696	chr11:93714236-93714237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150105664	chr11:93714251-93714252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536208522	chr11:93714295-93714296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376346594	chr11:93714329-93714330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186616028	chr11:93714385-93714386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs67412659	chr11:93714389-93714390	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs533791126	chr11:93714505-93714506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573981319	chr11:93714530-93714531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7116610	chr11:93714541-93714542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541489397	chr11:93714547-93714548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72964638	chr11:93714558-93714559	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs138681200	chr11:93714595-93714596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571785203	chr11:93714656-93714657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556661023	chr11:93714682-93714683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142713838	chr11:93714698-93714699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111799918	chr11:93714727-93714728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139395308	chr11:93714748-93714749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs61906095	chr11:93714752-93714753	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs564319865	chr11:93714756-93714757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531764249	chr11:93714768-93714769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77456919	chr11:93714910-93714911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562201319	chr11:93714921-93714922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115105019	chr11:93714932-93714933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1506658	chr11:93714950-93714951	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs377739591	chr11:93715023-93715024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566693701	chr11:93715024-93715025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534077448	chr11:93715063-93715064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190619305	chr11:93715075-93715076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182306720	chr11:93715089-93715090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374936928	chr11:93715114-93715115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537999960	chr11:93715135-93715136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556699653	chr11:93715165-93715166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	18852474	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93710800-93718600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:93710800-93719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:93714000-93716800	Enhancers	K562	blood
4	chr11:93716800-93717200	Flanking Active TSS	K562	blood
5	chr11:93716800-93721000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:93717000-93717200	ZNF genes & repeats	Fetal Kidney	kidney
7	chr11:93717200-93718800	Enhancers	K562	blood
8	chr11:93717200-93719600	Weak transcription	Fetal Kidney	kidney
9	chr11:93718200-93718400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:93718200-93718400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:93718200-93718400	Enhancers	Fetal Lung	lung
12	chr11:93718400-93719400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:93718400-93719400	Weak transcription	Fetal Lung	lung
14	chr11:93718400-93721000	Enhancers	HMEC	breast
15	chr11:93718600-93718800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr11:93718600-93719600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:93718600-93721000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:93718800-93719600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:93718800-93720200	Weak transcription	K562	blood
20	chr11:93718800-93720800	Enhancers	NHEK	skin
21	chr11:93719200-93720800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:93719400-93720400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:93719400-93720800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:93719400-93720800	Enhancers	Fetal Lung	lung
25	chr11:93719400-93720800	Enhancers	Stomach Mucosa	stomach
26	chr11:93719600-93719800	Enhancers	Fetal Kidney	kidney
27	chr11:93719600-93720200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:93719600-93720400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr11:93719600-93720600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:93719600-93720600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:93719600-93720600	Bivalent Enhancer	A549	lung
32	chr11:93719600-93720800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr11:93719600-93720800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:93719600-93720800	Enhancers	Pancreas	Pancrea
35	chr11:93719600-93721000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr11:93719800-93720200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr11:93719800-93720200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr11:93719800-93720600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr11:93720200-93720800	Enhancers	Gastric	stomach
40	chr11:93720200-93721000	Enhancers	K562	blood
41	chr11:93720400-93720800	Enhancers	Esophagus	oesophagus
42	chr11:93720800-93721600	Weak transcription	Fetal Lung	lung
43	chr11:93721000-93721400	Weak transcription	K562	blood
44	chr11:93721400-93722000	Enhancers	K562	blood
45	chr11:93721600-93721800	Enhancers	Fetal Lung	lung
46	chr11:93722000-93722800	Flanking Active TSS	K562	blood
47	chr11:93722800-93723600	Enhancers	K562	blood
48	chr11:93730800-93731200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:93731200-93735200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:93732800-93733600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links