Variant report

Variant	nsv556394
Chromosome Location	chr11:107779236-107795722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:280)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:280 , 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	chr11:107787359-107787681	K562	blood:	n/a	n/a
5	CTCF	chr11:107787720-107787870	MCF-7	breast:	n/a	n/a
6	CTCF	chr11:107779043-107779528	T-47D	breast:	n/a	n/a
7	CTCF	chr11:107787400-107787550	AG10803	skin:	n/a	n/a
8	CTCF	chr11:107787380-107787530	GM12872	blood:	n/a	n/a
9	CTCF	chr11:107787400-107787550	NHEK	skin:	n/a	n/a
10	CTCF	chr11:107787380-107787530	RPTEC	kidney:	n/a	n/a
11	CTCF	chr11:107787360-107787510	HAc	cerebellar:	n/a	n/a
12	CTCF	chr11:107787420-107787570	GM12865	blood:	n/a	n/a
13	CTCF	chr11:107787400-107787550	HPF	lung:	n/a	n/a
14	CTCF	chr11:107787740-107787890	NHEK	skin:	n/a	n/a
15	CTCF	chr11:107787740-107787890	AG04449	skin:	n/a	n/a
16	CTCF	chr11:107787824-107787844	GM13976	blood:	n/a	n/a
17	CTCF	chr11:107787400-107787550	GM12874	blood:	n/a	n/a
18	CTCF	chr11:107787720-107787870	NHEK	skin:	n/a	n/a
19	CTCF	chr11:107787362-107787609	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr11:107787400-107787550	AG09319	gingival:	n/a	n/a
21	CTCF	chr11:107787360-107787510	GM12864	blood:	n/a	n/a
22	CTCF	chr11:107787700-107787850	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr11:107787400-107787550	SAEC	small airway:	n/a	n/a
24	CTCF	chr11:107787720-107787870	HepG2	liver:	n/a	n/a
25	CTCF	chr11:107787700-107787850	AoAF	blood vessel:	n/a	n/a
26	CTCF	chr11:107787740-107787890	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr11:107787400-107787550	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr11:107787704-107787958	MCF-7	breast:	n/a	n/a
29	CTCF	chr11:107787400-107787550	HCFaa	heart:	n/a	n/a
30	CTCF	chr11:107787740-107787890	AG09319	gingival:	n/a	n/a
31	CTCF	chr11:107787380-107787530	WI-38	lung:	n/a	n/a
32	CTCF	chr11:107787220-107788033	GM12878	blood:	n/a	n/a
33	CTCF	chr11:107787420-107787570	GM12872	blood:	n/a	n/a
34	CTCF	chr11:107787400-107787550	K562	blood:	n/a	n/a
35	CTCF	chr11:107787166-107787273	GM19239	blood:	n/a	n/a
36	CTCF	chr11:107787400-107787550	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr11:107787380-107787530	HVMF	connective:	n/a	n/a
38	CTCF	chr11:107787740-107787890	GM12870	blood:	n/a	n/a
39	CTCF	chr11:107787715-107787953	MCF-7	breast:	n/a	n/a
40	CTCF	chr11:107788000-107788150	GM12872	blood:	n/a	n/a
41	CTCF	chr11:107787720-107787870	AG09309	skin:	n/a	n/a
42	CTCF	chr11:107787244-107787964	HepG2	liver:	n/a	n/a
43	CTCF	chr11:107787400-107787550	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr11:107787411-107787610	Pancreas_OC	pancreas:	n/a	n/a
45	CTCF	chr11:107787360-107787510	HVMF	connective:	n/a	n/a
46	CTCF	chr11:107787400-107787550	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr11:107787760-107787910	HMEC	breast:	n/a	n/a
48	CTCF	chr11:107788124-107788148	NHEK	skin:	n/a	n/a
49	CTCF	chr11:107787420-107787570	SAEC	small airway:	n/a	n/a
50	CTCF	chr11:107787420-107787570	HPAF	blood vessel:	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	AG10803	skin:	n/a
2	chr11:107795699-107795749	Caco-2	colon:	n/a
3	chr11:107795699-107795749	HCF	heart:	n/a
4	chr11:107795699-107795749	HRE	kidney:	n/a
5	chr11:107795699-107795749	AG09309	skin:	n/a
6	chr11:107795699-107795749	HPAEpiC	pulmonary alveolar:	n/a
7	chr11:107795699-107795749	MCF-7	breast:	n/a
8	chr11:107795699-107795749	SKMC	muscle:	n/a
9	chr11:107795699-107795749	AG04449	skin:	fetal
10	chr11:107795699-107795749	HepG2	liver:	n/a
11	chr11:107795699-107795749	HNPCEpiC	eye:	n/a
12	chr11:107795699-107795749	NH-A	brain:	n/a
13	chr11:107795699-107795749	ECC-1	luminal epithelium:	n/a
14	chr11:107795699-107795749	HL-60	blood:	n/a
15	chr11:107795699-107795749	AG09319	gingival:	n/a
16	chr11:107795699-107795749	T-47D	breast:	n/a
17	chr11:107795699-107795749	NB4	blood:	n/a
18	chr11:107795699-107795749	H1-hESC	embryonic stem cell:	embryo
19	chr11:107795699-107795749	HCM	heart:	n/a
20	chr11:107795699-107795749	NHDF-neo	bronchial:	n/a
21	chr11:107795699-107795749	PFSK-1	brain:	n/a
22	chr11:107795699-107795749	SAEC	small airway:	n/a
23	chr11:107795699-107795749	HCPEpiC	choroid plexus:	n/a
24	chr11:107795699-107795749	K562	blood:	n/a
25	chr11:107795699-107795749	U87	brain:	n/a
26	chr11:107795699-107795749	SK-N-SH_RA	brain:	n/a
27	chr11:107795699-107795749	HMEC	breast:	n/a
28	chr11:107795699-107795749	ovcar-3	ovarian:	n/a
29	chr11:107795699-107795749	SK-N-SH	brain:	n/a
30	chr11:107795699-107795749	GM12891	blood:	n/a
31	chr11:107795699-107795749	GM12878	blood:	n/a
32	chr11:107795699-107795749	AG04450	lung:	fetal
33	chr11:107795699-107795749	PrEC	prostate:	n/a
34	chr11:107795699-107795749	BJ	skin:	n/a
35	chr11:107795699-107795749	HUVEC	blood vessel:	n/a
36	chr11:107795699-107795749	AoSMC	blood vessel:	n/a
37	chr11:107795699-107795749	BE2_C	brain:	n/a
38	chr11:107795699-107795749	HEEpiC	esophagus:	n/a
39	chr11:107795699-107795749	RPTEC	kidney:	n/a
40	chr11:107795699-107795749	ProgFib	skin:	n/a
41	chr11:107795699-107795749	HAEpiC	amniotic membrane:	n/a
42	chr11:107795699-107795749	LNCaP	prostate:	n/a
43	chr11:107795699-107795749	CMK	blood:	n/a
44	chr11:107795699-107795749	PANC-1	pancreas:	n/a
45	chr11:107795699-107795749	IMR90	lung:	fetal
46	chr11:107795699-107795749	HCT-116	colon:	n/a
47	chr11:107795699-107795749	A549	lung:	n/a
48	chr11:107795699-107795749	HRPEpiC	eye:	n/a
49	chr11:107795699-107795749	HRCEpiC	kidney:	n/a
50	chr11:107795699-107795749	Hepatocyte	liver:	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: 494 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:494 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1803014	chr11:107779236-107779237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375015584	chr11:107779241-107779242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181428254	chr11:107779245-107779246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143905811	chr11:107779246-107779247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs968656	chr11:107779290-107779291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114438821	chr11:107779303-107779304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532193214	chr11:107779317-107779318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547151626	chr11:107779318-107779319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565748014	chr11:107779319-107779320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200610407	chr11:107779357-107779358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554542038	chr11:107779360-107779361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144687260	chr11:107779368-107779369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77408465	chr11:107779389-107779390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537693726	chr11:107779395-107779396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs5921603	chr11:107783611-107783612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577221455	chr11:107783614-107783615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79783012	chr11:107783629-107783630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28473153	chr11:107783638-107783639	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7128167	chr11:107783639-107783640	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs75722091	chr11:107783640-107783641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77443894	chr11:107783643-107783644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4397471	chr11:107783651-107783652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554460545	chr11:107783656-107783657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138146098	chr11:107783662-107783663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7329565	chr11:107783676-107783677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs62080693	chr11:107783687-107783688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35448943	chr11:107783688-107783689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543182645	chr11:107783697-107783698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561498219	chr11:107783700-107783701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77754139	chr11:107783701-107783702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537297129	chr11:107783703-107783704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375094846	chr11:107783720-107783721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11089467	chr11:107783721-107783722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28450489	chr11:107783722-107783723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35509055	chr11:107783726-107783727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74175042	chr11:107783728-107783729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113759561	chr11:107783730-107783731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74175043	chr11:107783735-107783736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75043480	chr11:107783737-107783738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543938714	chr11:107783741-107783742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76648920	chr11:107783743-107783744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74175044	chr11:107783749-107783750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76033799	chr11:107783758-107783759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74175046	chr11:107783768-107783769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74175047	chr11:107783782-107783783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71325759	chr11:107783788-107783789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71325760	chr11:107783790-107783791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61906915	chr11:107783791-107783792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74175048	chr11:107783795-107783796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74175049	chr11:107783801-107783802	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107779200-107779400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:107783600-107784400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:107784000-107785000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:107785000-107786400	Enhancers	Placenta	Placenta
5	chr11:107786400-107787600	Weak transcription	Placenta	Placenta
6	chr11:107787200-107787800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr11:107787200-107787800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:107787400-107787800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr11:107787600-107787800	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:107787600-107787800	Bivalent Enhancer	Brain Angular Gyrus	brain
11	chr11:107787600-107787800	Enhancers	Placenta	Placenta
12	chr11:107789000-107798400	Weak transcription	Right Atrium	heart
13	chr11:107791800-107792600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:107794600-107796000	Enhancers	GM12878-XiMat	blood

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