Variant report

Variant	nsv556411
Chromosome Location	chr11:107784942-107795722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:274)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr11:107787486-107787504	GM12878	blood:	n/a	n/a
2	CEBPB	chr11:107787485-107787505	HepG2	liver:	n/a	n/a
3	CHD2	chr11:107787469-107787640	GM12878	blood:	n/a	n/a
4	CTCF	chr11:107787155-107787234	GM10266	blood:	n/a	n/a
5	CTCF	chr11:107787705-107787918	ProgFib	skin:	n/a	n/a
6	CTCF	chr11:107787720-107787870	AG10803	skin:	n/a	n/a
7	CTCF	chr11:107787760-107787910	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr11:107787674-107787939	GM19239	blood:	n/a	n/a
9	CTCF	chr11:107787343-107787622	MCF-7	breast:	n/a	n/a
10	CTCF	chr11:107787220-107788033	GM12878	blood:	n/a	n/a
11	CTCF	chr11:107787380-107787530	HMEC	breast:	n/a	n/a
12	CTCF	chr11:107787060-107787210	HepG2	liver:	n/a	n/a
13	CTCF	chr11:107787400-107787550	GM12872	blood:	n/a	n/a
14	CTCF	chr11:107787740-107787890	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr11:107787400-107787550	HEK293	kidney:	n/a	n/a
16	CTCF	chr11:107787720-107787870	HepG2	liver:	n/a	n/a
17	CTCF	chr11:107787400-107787550	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr11:107787740-107787890	HMEC	breast:	n/a	n/a
19	CTCF	chr11:107787320-107787470	NHDF-neo	bronchial:	n/a	n/a
20	CTCF	chr11:107787372-107787602	K562	blood:	n/a	n/a
21	CTCF	chr11:107787740-107787890	HL-60	blood:	n/a	n/a
22	CTCF	chr11:107787380-107787530	GM12866	blood:	n/a	n/a
23	CTCF	chr11:107787235-107787238	GM10266	blood:	n/a	n/a
24	CTCF	chr11:107787360-107787510	AG04450	lung:	n/a	n/a
25	CTCF	chr11:107787824-107787844	GM13976	blood:	n/a	n/a
26	CTCF	chr11:107787366-107787605	HepG2	liver:	n/a	n/a
27	CTCF	chr11:107787326-107787643	Gliobla	brain:	n/a	n/a
28	CTCF	chr11:107787420-107787570	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr11:107788200-107788350	HMF	breast:	n/a	n/a
30	CTCF	chr11:107787685-107787990	GM12891	blood:	n/a	n/a
31	CTCF	chr11:107787340-107787490	GM12878	blood:	n/a	n/a
32	CTCF	chr11:107787334-107787628	MCF-7	breast:	n/a	n/a
33	CTCF	chr11:107787420-107787570	GM12869	blood:	n/a	n/a
34	CTCF	chr11:107787343-107787648	Medullo	brain:	n/a	n/a
35	CTCF	chr11:107787360-107787510	HAc	cerebellar:	n/a	n/a
36	CTCF	chr11:107787774-107787935	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr11:107788083-107788151	GM20000	blood:	n/a	n/a
38	CTCF	chr11:107787400-107787550	HPF	lung:	n/a	n/a
39	CTCF	chr11:107787740-107787890	GM12864	blood:	n/a	n/a
40	CTCF	chr11:107787380-107787530	GM12870	blood:	n/a	n/a
41	CTCF	chr11:107787740-107787890	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr11:107787720-107787870	HPF	lung:	n/a	n/a
43	CTCF	chr11:107787319-107787651	GM13977	blood:	n/a	n/a
44	CTCF	chr11:107787380-107787530	RPTEC	kidney:	n/a	n/a
45	CTCF	chr11:107787380-107787530	AG09309	skin:	n/a	n/a
46	CTCF	chr11:107787699-107787955	GM13977	blood:	n/a	n/a
47	CTCF	chr11:107787700-107787850	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr11:107787740-107787890	GM12865	blood:	n/a	n/a
49	CTCF	chr11:107787244-107787964	HepG2	liver:	n/a	n/a
50	CTCF	chr11:107787400-107787550	GM12874	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:107795699-107795749	U87	brain:	n/a
2	chr11:107795699-107795749	HCF	heart:	n/a
3	chr11:107795699-107795749	NH-A	brain:	n/a
4	chr11:107795699-107795749	MCF10A-Er-Src	breast:	n/a
5	chr11:107795699-107795749	PFSK-1	brain:	n/a
6	chr11:107795699-107795749	HEK293	kidney:	embryo
7	chr11:107795699-107795749	CMK	blood:	n/a
8	chr11:107795699-107795749	HepG2	liver:	n/a
9	chr11:107795699-107795749	GM06990	blood:	n/a
10	chr11:107795699-107795749	AG10803	skin:	n/a
11	chr11:107795699-107795749	HUVEC	blood vessel:	n/a
12	chr11:107795699-107795749	LNCaP	prostate:	n/a
13	chr11:107795699-107795749	K562	blood:	n/a
14	chr11:107795699-107795749	PANC-1	pancreas:	n/a
15	chr11:107795699-107795749	HPAEpiC	pulmonary alveolar:	n/a
16	chr11:107795699-107795749	NB4	blood:	n/a
17	chr11:107795699-107795749	SK-N-SH_RA	brain:	n/a
18	chr11:107795699-107795749	Jurkat	blood:	n/a
19	chr11:107795699-107795749	MCF-7	breast:	n/a
20	chr11:107795699-107795749	GM12891	blood:	n/a
21	chr11:107795699-107795749	BJ	skin:	n/a
22	chr11:107795699-107795749	Caco-2	colon:	n/a
23	chr11:107795699-107795749	HL-60	blood:	n/a
24	chr11:107795699-107795749	SAEC	small airway:	n/a
25	chr11:107795699-107795749	ovcar-3	ovarian:	n/a
26	chr11:107795699-107795749	HMEC	breast:	n/a
27	chr11:107795699-107795749	GM12878	blood:	n/a
28	chr11:107795699-107795749	HRCEpiC	kidney:	n/a
29	chr11:107795699-107795749	HEEpiC	esophagus:	n/a
30	chr11:107795699-107795749	AG04449	skin:	fetal
31	chr11:107795699-107795749	Hela-S3	cervix:	n/a
32	chr11:107795699-107795749	NT2-D1	testis:	n/a
33	chr11:107795699-107795749	PrEC	prostate:	n/a
34	chr11:107795699-107795749	HNPCEpiC	eye:	n/a
35	chr11:107795699-107795749	SKMC	muscle:	n/a
36	chr11:107795699-107795749	HIPEpiC	eye:	n/a
37	chr11:107795699-107795749	NHBE	bronchial:	n/a
38	chr11:107795699-107795749	HAEpiC	amniotic membrane:	n/a
39	chr11:107795699-107795749	T-47D	breast:	n/a
40	chr11:107795699-107795749	AG09309	skin:	n/a
41	chr11:107795699-107795749	SK-N-SH	brain:	n/a
42	chr11:107795699-107795749	ProgFib	skin:	n/a
43	chr11:107795699-107795749	Hepatocyte	liver:	n/a
44	chr11:107795699-107795749	A549	lung:	n/a
45	chr11:107795699-107795749	HCM	heart:	n/a
46	chr11:107795699-107795749	AoSMC	blood vessel:	n/a
47	chr11:107795699-107795749	HRPEpiC	eye:	n/a
48	chr11:107795699-107795749	GM19239	blood:	n/a
49	chr11:107795699-107795749	NHDF-neo	bronchial:	n/a
50	chr11:107795699-107795749	ECC-1	luminal epithelium:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107724102..107726025-chr11:107793740..107795283,2	K562	blood:

No data

Variant related genes	Relation type
RAB39A	TF binding region
RAB39A	CpG island

Extended variants
information (count: 390 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs493342	chr11:107784942-107784943	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182665960	chr11:107784962-107784963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552952068	chr11:107785025-107785026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576684628	chr11:107785026-107785027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568359894	chr11:107785028-107785029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537620851	chr11:107785029-107785030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185343976	chr11:107785032-107785033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190237432	chr11:107785039-107785040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73548901	chr11:107785083-107785084	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535618703	chr11:107785121-107785122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376532572	chr11:107785128-107785129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80187690	chr11:107785130-107785131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61906916	chr11:107785131-107785132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142250052	chr11:107785178-107785179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542479413	chr11:107785189-107785190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151261058	chr11:107785192-107785193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531525478	chr11:107785208-107785209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182820153	chr11:107785228-107785229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4561176	chr11:107785241-107785242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111719045	chr11:107785249-107785250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371530913	chr11:107785268-107785269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532229445	chr11:107785273-107785274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187468561	chr11:107785301-107785302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373719255	chr11:107785308-107785309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565638170	chr11:107785312-107785313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs193182783	chr11:107785331-107785332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563602972	chr11:107785397-107785398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548236059	chr11:107785415-107785416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528149283	chr11:107785431-107785432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570348156	chr11:107785458-107785459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547883745	chr11:107785544-107785545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537782973	chr11:107785559-107785560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371105344	chr11:107785601-107785602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559104631	chr11:107785681-107785682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568036670	chr11:107785693-107785694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113945555	chr11:107785729-107785730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553205697	chr11:107785737-107785738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546095	chr11:107785784-107785785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34340731	chr11:107785853-107785854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574747407	chr11:107785966-107785967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541796087	chr11:107785979-107785980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563374653	chr11:107786007-107786008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150437621	chr11:107786008-107786009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138650850	chr11:107786029-107786030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140325052	chr11:107786058-107786059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541756220	chr11:107786114-107786115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183536488	chr11:107786147-107786148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141174525	chr11:107786167-107786168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559165662	chr11:107786171-107786172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371190999	chr11:107786175-107786176	Enhancers	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
Acute lymphoblastic leukemia	18458336	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107784000-107785000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:107785000-107786400	Enhancers	Placenta	Placenta
3	chr11:107786400-107787600	Weak transcription	Placenta	Placenta
4	chr11:107787200-107787800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:107787200-107787800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:107787400-107787800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr11:107787600-107787800	Enhancers	Primary B cells from peripheral blood	blood
8	chr11:107787600-107787800	Bivalent Enhancer	Brain Angular Gyrus	brain
9	chr11:107787600-107787800	Enhancers	Placenta	Placenta
10	chr11:107789000-107798400	Weak transcription	Right Atrium	heart
11	chr11:107791800-107792600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr11:107794600-107796000	Enhancers	GM12878-XiMat	blood

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