Variant report

Variant	nsv975959
Chromosome Location	chr11:86534725-86568919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:86559792-86559962	K562	blood:	n/a	n/a
2	CTCF	chr11:86558720-86558870	Caco-2	colon:	n/a	n/a
3	CTCF	chr11:86546200-86546275	Lung_OC	lung:	n/a	n/a
4	E2F4	chr11:86565650-86566003	MCF10A-Er-Src	breast:	n/a	n/a
5	EP300	chr11:86561650-86561854	K562	blood:	n/a	n/a
6	FOXA1	chr11:86561647-86561866	T-47D	breast:	n/a	n/a
7	FOXA1	chr11:86541003-86541450	HepG2	liver:	n/a	n/a
8	FOXA2	chr11:86540869-86541554	A549	lung:	n/a	n/a
9	FOXA2	chr11:86541094-86541478	A549	lung:	n/a	n/a
10	GATA3	chr11:86561646-86561998	MCF-7	breast:	n/a	n/a
11	MAFK	chr11:86544637-86544751	HepG2	liver:	n/a	n/a
12	MAFK	chr11:86544718-86544729	IMR90	lung:	n/a	n/a
13	MAFK	chr11:86547915-86548016	HepG2	liver:	n/a	chr11:86547993-86548004 chr11:86547993-86548004 chr11:86547992-86548003
14	MAFK	chr11:86544652-86544740	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:86563056-86563181	Gliobla	brain:	n/a	n/a
16	POLR2A	chr11:86542145-86542259	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr11:86547818-86547905	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:86542302-86542466	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:86535979-86536054	ProgFib	skin:	n/a	n/a
20	POLR2A	chr11:86542205-86542288	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:86566051-86566172	H1-hESC	embryonic stem cell:	n/a	n/a
22	SETDB1	chr11:86541661-86542213	U2OS	brain:	n/a	n/a
23	SPI1	chr11:86553418-86553621	HL-60	blood:	n/a	n/a
24	SPI1	chr11:86553398-86553640	GM12878	blood:	n/a	n/a
25	SPI1	chr11:86559778-86559959	K562	blood:	n/a	n/a
26	SPI1	chr11:86537369-86537477	K562	blood:	n/a	n/a
27	SPI1	chr11:86553382-86553595	GM12891	blood:	n/a	n/a
28	SPI1	chr11:86553463-86553623	K562	blood:	n/a	n/a
29	SPI1	chr11:86553272-86553773	GM12878	blood:	n/a	n/a
30	STAT3	chr11:86542893-86542998	MCF10A-Er-Src	breast:	n/a	n/a
31	ZNF384	chr11:86564236-86564368	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45825151..45827772-chr11:86555023..86556988,2	MCF-7	breast:
2	chr11:45834121..45836057-chr11:86557462..86559021,2	MCF-7	breast:
3	chr11:45819288..45820814-chr11:86563285..86565381,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FZD4-4	chr11:86543630-86544143	NONHSAT140034
2	lnc-TMEM135-7	chr11:86544110-86544504	ENSG00000269895.1
3	lnc-FZD4-3	chr11:86567973-86568996	NR_045004
4	lnc-TMEM135-7	chr11:86547861-86548657	ENSG00000269895.1

No data

Variant related genes	Relation type
ENSG00000269895	TF binding region
OR7E13P	TF binding region
ENSG00000271318	TF binding region
ENSG00000255447	chromatin interactions
ENSG00000181830	chromatin interactions

Extended variants
information (count: 1734 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1734 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184818700	chr11:86534745-86534746	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374126258	chr11:86534776-86534777	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139614320	chr11:86534787-86534788	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533323523	chr11:86534794-86534795	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111520873	chr11:86534814-86534815	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112478501	chr11:86534819-86534820	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533759856	chr11:86534830-86534831	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374860636	chr11:86534872-86534873	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553686571	chr11:86534878-86534879	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145724040	chr11:86534880-86534881	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368309512	chr11:86534954-86534955	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570248682	chr11:86534973-86534974	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537751597	chr11:86534974-86534975	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3016250	chr11:86534979-86534980	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555835092	chr11:86535003-86535004	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3016251	chr11:86535014-86535015	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2912581	chr11:86535018-86535019	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541072651	chr11:86535042-86535043	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78605341	chr11:86535049-86535050	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71040266	chr11:86535072-86535073	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55884309	chr11:86535073-86535074	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74197885	chr11:86535087-86535088	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189285448	chr11:86535108-86535109	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147692726	chr11:86535120-86535121	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530150257	chr11:86535121-86535122	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3016252	chr11:86535131-86535132	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs563898478	chr11:86535182-86535183	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532749999	chr11:86535186-86535187	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114426362	chr11:86535221-86535222	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566383394	chr11:86535257-86535258	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528747154	chr11:86535289-86535290	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373767929	chr11:86535372-86535373	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548494313	chr11:86535373-86535374	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372867879	chr11:86535412-86535413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55920841	chr11:86535415-86535416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200909818	chr11:86535416-86535417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76502270	chr11:86535417-86535418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79475050	chr11:86535426-86535427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76877099	chr11:86535429-86535430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567239531	chr11:86535433-86535434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535991970	chr11:86535456-86535457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182174408	chr11:86535515-86535516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569557603	chr11:86535591-86535592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186542866	chr11:86535612-86535613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558285511	chr11:86535670-86535671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572029082	chr11:86535675-86535676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373719920	chr11:86535706-86535707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377595746	chr11:86535738-86535739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541283531	chr11:86535742-86535743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57256139	chr11:86535776-86535777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	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	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	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
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86520000-86549200	Weak transcription	Ovary	ovary
2	chr11:86521000-86551400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:86522800-86544400	Weak transcription	Fetal Kidney	kidney
4	chr11:86528000-86542600	Weak transcription	Adipose Nuclei	Adipose
5	chr11:86528800-86545400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:86529600-86543400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:86530200-86541800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:86530200-86542800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:86530200-86549000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:86530200-86549000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:86530200-86549000	Weak transcription	HMEC	breast
12	chr11:86530200-86550800	Weak transcription	HUVEC	blood vessel
13	chr11:86530400-86537000	Weak transcription	Fetal Lung	lung
14	chr11:86530400-86548600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:86530400-86549200	Weak transcription	Aorta	Aorta
16	chr11:86530400-86551000	Weak transcription	A549	lung
17	chr11:86530400-86551400	Weak transcription	Osteobl	bone
18	chr11:86531000-86549400	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:86533000-86548600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:86533400-86534800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:86533800-86535400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:86534200-86534800	Strong transcription	HSMM	muscle
23	chr11:86534200-86535400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:86534400-86534800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:86534400-86534800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:86534400-86535400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:86534400-86535400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:86534600-86535800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:86534600-86549200	Weak transcription	Fetal Stomach	stomach
30	chr11:86534800-86541400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:86534800-86541600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:86534800-86542000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:86534800-86550800	Weak transcription	HSMM	muscle
34	chr11:86535400-86541400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:86535400-86541400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:86535400-86541800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:86535400-86542000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:86537200-86580600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:86541400-86541800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:86541400-86544400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:86541400-86544800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:86541600-86544600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:86541800-86542200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:86541800-86544400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:86541800-86544600	Strong transcription	Stomach Smooth Muscle	stomach
46	chr11:86541800-86548600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:86542000-86544400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:86542000-86545000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:86542200-86545000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:86542200-86547800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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