Variant report

Variant	nsv556280
Chromosome Location	chr11:107158740-107231605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:146)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:146 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:107161599-107161648	K562	blood:	n/a	n/a
2	CEBPB	chr11:107172623-107172831	H1-hESC	embryonic stem cell:	n/a	chr11:107172701-107172712
3	CEBPB	chr11:107172632-107172925	MCF-7	breast:	n/a	chr11:107172701-107172712
4	CEBPB	chr11:107172555-107172813	HepG2	liver:	n/a	chr11:107172701-107172712
5	CEBPB	chr11:107172641-107172753	A549	lung:	n/a	chr11:107172701-107172712
6	CEBPB	chr11:107172562-107172870	IMR90	lung:	n/a	chr11:107172701-107172712
7	CEBPB	chr11:107199128-107199405	IMR90	lung:	n/a	n/a
8	CEBPB	chr11:107172543-107172898	Hela-S3	cervix:	n/a	chr11:107172701-107172712
9	CHD2	chr11:107190444-107190450	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:107215321-107215330	GM13976	blood:	n/a	n/a
11	CTCF	chr11:107177856-107177929	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr11:107207073-107207127	Fibrobl	skin:	n/a	n/a
13	CTCF	chr11:107163161-107163252	GM13976	blood:	n/a	n/a
14	CTCF	chr11:107182263-107182297	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr11:107166032-107166128	GM13976	blood:	n/a	n/a
16	CTCF	chr11:107188260-107188329	GM13976	blood:	n/a	n/a
17	CTCF	chr11:107215290-107215315	GM13976	blood:	n/a	n/a
18	CUX1	chr11:107218932-107218950	GM12878	blood:	n/a	n/a
19	E2F4	chr11:107208494-107208574	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr11:107162069-107162131	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr11:107172596-107172720	MCF10A-Er-Src	breast:	n/a	n/a
22	EBF1	chr11:107205272-107205398	GM12878	blood:	n/a	n/a
23	EP300	chr11:107195113-107195133	GM12878	blood:	n/a	n/a
24	FOS	chr11:107172545-107172727	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr11:107172634-107172730	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr11:107222374-107222525	MCF10A-Er-Src	breast:	n/a	n/a
27	FOXA1	chr11:107172553-107172925	T-47D	breast:	n/a	n/a
28	FOXA1	chr11:107211694-107212003	HepG2	liver:	n/a	n/a
29	FOXA1	chr11:107172633-107172904	T-47D	breast:	n/a	n/a
30	FOXA1	chr11:107164648-107164991	HepG2	liver:	n/a	n/a
31	FOXA1	chr11:107164824-107165026	HepG2	liver:	n/a	n/a
32	FOXA1	chr11:107172091-107172294	T-47D	breast:	n/a	n/a
33	FOXA2	chr11:107211680-107211918	HepG2	liver:	n/a	n/a
34	GATA2	chr11:107172742-107173068	HUVEC	blood vessel:	n/a	n/a
35	GATA3	chr11:107179940-107180012	SH-SY5Y	brain:	n/a	n/a
36	GATA3	chr11:107172615-107172914	T-47D	breast:	n/a	n/a
37	GATA3	chr11:107231469-107231532	SH-SY5Y	brain:	n/a	n/a
38	GATA3	chr11:107228678-107228906	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr11:107182038-107182142	SH-SY5Y	brain:	n/a	n/a
40	GTF2F1	chr11:107190354-107190596	H1-hESC	embryonic stem cell:	n/a	n/a
41	JUN	chr11:107162978-107163186	HepG2	liver:	n/a	chr11:107163076-107163089
42	JUN	chr11:107224358-107224368	H1-hESC	embryonic stem cell:	n/a	n/a
43	JUND	chr11:107192371-107192553	HepG2	liver:	n/a	n/a
44	JUND	chr11:107199997-107200207	HepG2	liver:	n/a	chr11:107200086-107200093 chr11:107200084-107200094 chr11:107200085-107200093 chr11:107200083-107200094
45	JUND	chr11:107222361-107222588	K562	blood:	n/a	n/a
46	KAP1	chr11:107164631-107165168	HEK293	kidney:	n/a	n/a
47	MAFF	chr11:107165433-107165720	HepG2	liver:	n/a	chr11:107165562-107165580
48	MAFF	chr11:107193683-107193955	HepG2	liver:	n/a	chr11:107193821-107193839
49	MAFK	chr11:107193676-107193970	HepG2	liver:	n/a	chr11:107193823-107193838
50	MAFK	chr11:107165446-107165646	IMR90	lung:	n/a	chr11:107165564-107165579

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:107173992..107176253-chr11:107193691..107195884,2	K562	blood:
2	chr11:107213050..107215630-chr11:107219007..107221031,2	K562	blood:
3	chr11:107215828..107218529-chr11:107218963..107221832,3	K562	blood:
4	chr11:107216471..107218529-chr11:107219942..107221612,2	K562	blood:
5	chr11:107213050..107215630-chr11:107219007..107221031,2	K562	blood:
6	chr11:107173736..107175485-chr11:107175928..107178317,2	K562	blood:
7	chr11:107173992..107176253-chr11:107193691..107195884,2	K562	blood:
8	chr11:107216471..107218529-chr11:107219942..107221612,2	K562	blood:
9	chr11:107173736..107175485-chr11:107175928..107178317,2	K562	blood:
10	chr11:107215828..107218529-chr11:107218963..107221832,3	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CWF19L2-1	chr11:107183057-107184045	NONHSAT023993
2	lnc-CWF19L2-1	chr11:107181806-107181958	XLOC_009544
3	lnc-CWF19L2-1	chr11:107182073-107186290	XLOC_009544
4	lnc-CWF19L2-1	chr11:107182858-107186997	ENSG00000261098.1
5	lnc-CWF19L2-1	chr11:107184094-107184136	NONHSAT023993
6	lnc-CWF19L2-1	chr11:107184592-107184806	NONHSAT023993

No data

Variant related genes	Relation type
ENSG00000261098	TF binding region
CWF19L2	TF binding region

Extended variants
information (count: 3006 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:3006 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17106711	chr11:107158740-107158741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557318530	chr11:107158761-107158762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544269819	chr11:107158849-107158850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556324702	chr11:107158858-107158859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578208255	chr11:107158941-107158942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184791270	chr11:107158948-107158949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369376049	chr11:107159044-107159045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188747704	chr11:107159072-107159073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181389725	chr11:107159097-107159098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147608341	chr11:107159115-107159116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529300833	chr11:107159117-107159118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186014975	chr11:107159188-107159189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201668464	chr11:107159207-107159208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7931852	chr11:107159245-107159246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7932042	chr11:107159264-107159265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs571747159	chr11:107159271-107159272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189249464	chr11:107159281-107159282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11212132	chr11:107159302-107159303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs532959130	chr11:107159353-107159354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551115087	chr11:107159438-107159439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375933799	chr11:107159443-107159444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534060645	chr11:107159472-107159473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555398863	chr11:107159476-107159477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11212133	chr11:107159505-107159506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182348739	chr11:107159529-107159530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11212134	chr11:107159539-107159540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs556285892	chr11:107159548-107159549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557881671	chr11:107159554-107159555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568113591	chr11:107159575-107159576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187202053	chr11:107159584-107159585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554299000	chr11:107159640-107159641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572564712	chr11:107159663-107159664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543277391	chr11:107159668-107159669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12796588	chr11:107159716-107159717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs576369377	chr11:107159718-107159719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11212135	chr11:107159728-107159729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs12272847	chr11:107159736-107159737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs532431067	chr11:107159777-107159778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572986186	chr11:107159793-107159794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547501391	chr11:107159843-107159844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150239997	chr11:107159869-107159870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34246138	chr11:107159874-107159875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527524767	chr11:107159913-107159914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549247599	chr11:107159949-107159950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539337451	chr11:107159976-107159977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567492080	chr11:107160051-107160052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537839199	chr11:107160088-107160089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549749487	chr11:107160116-107160117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571270423	chr11:107160215-107160216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538701599	chr11:107160224-107160225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	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
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1076 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107147600-107167200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:107152800-107164200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:107153000-107191400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:107153400-107179200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:107154400-107176200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:107159000-107164400	Weak transcription	Pancreas	Pancrea
7	chr11:107160200-107175200	Weak transcription	Primary B cells from cord blood	blood
8	chr11:107160400-107175200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:107161000-107164600	Weak transcription	Primary T cells from cord blood	blood
10	chr11:107161600-107164200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr11:107162400-107162600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr11:107162400-107164200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr11:107162400-107164200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:107162400-107164600	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:107162600-107164400	Weak transcription	Fetal Stomach	stomach
16	chr11:107162600-107164600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:107162800-107164400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:107162800-107164600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:107163000-107164400	Weak transcription	Fetal Intestine Small	intestine
20	chr11:107163000-107164400	Weak transcription	Ovary	ovary
21	chr11:107163000-107164600	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:107163000-107164800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:107163000-107164800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:107163000-107164800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:107163000-107164800	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:107163000-107164800	Weak transcription	Left Ventricle	heart
27	chr11:107163000-107181800	Weak transcription	Fetal Intestine Large	intestine
28	chr11:107163000-107191200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:107163200-107164200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:107163200-107164800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr11:107163200-107164800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr11:107163200-107164800	Weak transcription	Adipose Nuclei	Adipose
33	chr11:107163200-107164800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:107163200-107165000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:107163200-107165000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr11:107163200-107167200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:107163200-107170200	Weak transcription	Dnd41	blood
38	chr11:107163200-107173600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:107163200-107178800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:107163200-107191000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr11:107163200-107191200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:107163200-107191400	Weak transcription	Brain Substantia Nigra	brain
43	chr11:107163200-107191600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:107163200-107194000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr11:107163400-107165000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:107163400-107167000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:107163600-107164400	Weak transcription	Aorta	Aorta
48	chr11:107163600-107164600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:107163600-107164600	Weak transcription	Spleen	Spleen
50	chr11:107163600-107175400	Weak transcription	Right Ventricle	heart

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