Variant report

Variant	nsv1035610
Chromosome Location	chr11:107223758-107239116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:107233572-107233629	Kidney_OC	kidney:	n/a	n/a
2	FOXA2	chr11:107232651-107233340	A549	lung:	n/a	n/a
3	GATA3	chr11:107228678-107228906	SH-SY5Y	brain:	n/a	n/a
4	GATA3	chr11:107231469-107231532	SH-SY5Y	brain:	n/a	n/a
5	JUN	chr11:107224358-107224368	H1-hESC	embryonic stem cell:	n/a	n/a
6	NFYB	chr11:107229613-107229700	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:107232783-107233017	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:107231607-107231731	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr11:107228421-107228478	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:107232159-107232356	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:107232820-107232834	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:107232831-107233008	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:107232837-107233153	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr11:107232533-107233078	H1-hESC	embryonic stem cell:	n/a	n/a
15	SRF	chr11:107232590-107232783	GM12878	blood:	n/a	n/a
16	STAT3	chr11:107230844-107230852	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr11:107239011-107239174	MCF10A-Er-Src	breast:	n/a	chr11:107239076-107239087
18	STAT3	chr11:107231749-107231774	MCF10A-Er-Src	breast:	n/a	n/a
19	TAF1	chr11:107232693-107233045	H1-hESC	embryonic stem cell:	n/a	n/a
20	TEAD4	chr11:107230589-107230773	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:107232729-107232779	AG09309	skin:	n/a
2	chr11:107232729-107232779	HepG2	liver:	n/a
3	chr11:107232729-107232779	SAEC	small airway:	n/a
4	chr11:107232729-107232779	HCF	heart:	n/a
5	chr11:107232729-107232779	ProgFib	skin:	n/a
6	chr11:107232729-107232779	LNCaP	prostate:	n/a
7	chr11:107232729-107232779	GM12878	blood:	n/a
8	chr11:107232729-107232779	T-47D	breast:	n/a
9	chr11:107232729-107232779	HRPEpiC	eye:	n/a
10	chr11:107232729-107232779	AG10803	skin:	n/a
11	chr11:107232729-107232779	NHDF-neo	bronchial:	n/a
12	chr11:107232729-107232779	H1-hESC	embryonic stem cell:	embryo
13	chr11:107232729-107232779	HL-60	blood:	n/a
14	chr11:107232729-107232779	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:107232729-107232779	SK-N-SH	brain:	n/a
16	chr11:107232729-107232779	RPTEC	kidney:	n/a
17	chr11:107232729-107232779	AG04450	lung:	fetal
18	chr11:107232729-107232779	PrEC	prostate:	n/a
19	chr11:107232729-107232779	HRE	kidney:	n/a
20	chr11:107232729-107232779	AG04449	skin:	fetal
21	chr11:107232729-107232779	Hepatocyte	liver:	n/a
22	chr11:107232729-107232779	BJ	skin:	n/a
23	chr11:107232729-107232779	HCM	heart:	n/a
24	chr11:107232729-107232779	HUVEC	blood vessel:	n/a
25	chr11:107232729-107232779	PANC-1	pancreas:	n/a
26	chr11:107232729-107232779	IMR90	lung:	fetal
27	chr11:107232729-107232779	K562	blood:	n/a
28	chr11:107232729-107232779	SK-N-SH_RA	brain:	n/a
29	chr11:107232729-107232779	GM12891	blood:	n/a
30	chr11:107232729-107232779	HAEpiC	amniotic membrane:	n/a
31	chr11:107232729-107232779	HIPEpiC	eye:	n/a
32	chr11:107232729-107232779	GM12892	blood:	n/a
33	chr11:107232729-107232779	HCT-116	colon:	n/a
34	chr11:107232729-107232779	HEEpiC	esophagus:	n/a
35	chr11:107232729-107232779	BE2_C	brain:	n/a
36	chr11:107232729-107232779	HEK293	kidney:	embryo
37	chr11:107232729-107232779	NH-A	brain:	n/a
38	chr11:107232729-107232779	GM19239	blood:	n/a
39	chr11:107232729-107232779	AG09319	gingival:	n/a
40	chr11:107232729-107232779	MCF10A-Er-Src	breast:	n/a
41	chr11:107232729-107232779	NT2-D1	testis:	n/a
42	chr11:107232729-107232779	HNPCEpiC	eye:	n/a
43	chr11:107232729-107232779	ovcar-3	ovarian:	n/a
44	chr11:107232729-107232779	ECC-1	luminal epithelium:	n/a
45	chr11:107232729-107232779	Caco-2	colon:	n/a
46	chr11:107232729-107232779	SKMC	muscle:	n/a
47	chr11:107232729-107232779	CMK	blood:	n/a
48	chr11:107232729-107232779	AoSMC	blood vessel:	n/a
49	chr11:107232729-107232779	Hela-S3	cervix:	n/a
50	chr11:107232729-107232779	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107237489..107239255-chr11:107241546..107243344,2	K562	blood:

No data

Variant related genes	Relation type
CWF19L2	TF binding region
CWF19L2	CpG island

Extended variants
information (count: 655 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:655 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs976707	chr11:107223758-107223759	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567545753	chr11:107223811-107223812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553673318	chr11:107223812-107223813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571976016	chr11:107223814-107223815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542259979	chr11:107223821-107223822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554595580	chr11:107223876-107223877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183558043	chr11:107223900-107223901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543536999	chr11:107223960-107223961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374687431	chr11:107223981-107223982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141107864	chr11:107224019-107224020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574850206	chr11:107224030-107224031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374814506	chr11:107224063-107224064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375149241	chr11:107224198-107224199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200805334	chr11:107224207-107224208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548600043	chr11:107224208-107224209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374724322	chr11:107224215-107224216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199938531	chr11:107224219-107224220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4576794	chr11:107224225-107224226	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552668912	chr11:107224263-107224264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146504700	chr11:107224279-107224280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139979724	chr11:107224282-107224283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199558505	chr11:107224295-107224296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143345073	chr11:107224320-107224321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371168289	chr11:107224339-107224340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146719098	chr11:107224385-107224386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367925482	chr11:107224388-107224389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146937549	chr11:107224390-107224391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185277417	chr11:107224407-107224408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35543671	chr11:107224415-107224416	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs113806592	chr11:107224440-107224441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34383469	chr11:107224466-107224467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201842932	chr11:107224470-107224471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554551227	chr11:107224501-107224502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374998302	chr11:107224503-107224504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12419244	chr11:107224506-107224507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189858663	chr11:107224528-107224529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576968768	chr11:107224544-107224545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541644675	chr11:107224545-107224546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374146917	chr11:107224579-107224580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560038401	chr11:107224591-107224592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368667183	chr11:107224625-107224626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574928898	chr11:107224644-107224645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79264642	chr11:107224684-107224685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117953462	chr11:107224694-107224695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4343000	chr11:107224718-107224719	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs2155212	chr11:107224805-107224806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530958124	chr11:107224808-107224809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs137979434	chr11:107224812-107224813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564250290	chr11:107224823-107224824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58883142	chr11:107224827-107224828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107169400-107230000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr11:107173600-107231400	Weak transcription	Brain Angular Gyrus	brain
3	chr11:107179200-107229800	Weak transcription	Psoas Muscle	Psoas
4	chr11:107180000-107233200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:107183400-107234400	Weak transcription	HSMMtube	muscle
6	chr11:107192000-107224200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:107192200-107223800	Weak transcription	Brain Substantia Nigra	brain
8	chr11:107192200-107225600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:107192200-107229000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:107192200-107232200	Weak transcription	Esophagus	oesophagus
11	chr11:107193800-107229800	Weak transcription	Right Ventricle	heart
12	chr11:107193800-107237200	Weak transcription	Gastric	stomach
13	chr11:107194600-107235600	Weak transcription	Aorta	Aorta
14	chr11:107194800-107224000	Weak transcription	Small Intestine	intestine
15	chr11:107195000-107299200	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:107195200-107224000	Weak transcription	Thymus	Thymus
17	chr11:107195200-107225800	Weak transcription	HSMM	muscle
18	chr11:107195200-107233000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr11:107197000-107228200	Weak transcription	Fetal Stomach	stomach
20	chr11:107198200-107233200	Weak transcription	Placenta	Placenta
21	chr11:107198200-107240800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:107200800-107224400	Weak transcription	Fetal Thymus	thymus
23	chr11:107203000-107226200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:107204000-107227400	Weak transcription	Pancreas	Pancrea
25	chr11:107205600-107234800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:107214200-107225400	Weak transcription	Fetal Brain Female	brain
27	chr11:107214200-107232600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:107215400-107226200	Weak transcription	HepG2	liver
29	chr11:107215400-107231200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:107215800-107224200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:107215800-107225800	Weak transcription	Spleen	Spleen
32	chr11:107215800-107227200	Weak transcription	GM12878-XiMat	blood
33	chr11:107215800-107230000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:107215800-107230600	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:107215800-107231600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:107215800-107233000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:107215800-107240800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:107216600-107224000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:107216600-107225600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr11:107217000-107224600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr11:107217200-107224000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr11:107217200-107224600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:107217200-107225800	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr11:107217400-107229800	Weak transcription	Lung	lung
45	chr11:107218000-107225200	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:107218800-107224600	Strong transcription	Adipose Nuclei	Adipose
47	chr11:107219800-107225800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr11:107219800-107232600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr11:107219800-107234800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:107219800-107256400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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