Variant report

Variant	nsv1028179
Chromosome Location	chr8:47939879-47986891
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:169)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:169 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr8:47971729-47971894	GM12878	blood:	n/a	chr8:47971826-47971837
2	BHLHE40	chr8:47955199-47955534	K562	blood:	n/a	n/a
3	CEBPB	chr8:47952387-47952574	A549	lung:	n/a	n/a
4	CEBPB	chr8:47946415-47946680	HepG2	liver:	n/a	chr8:47946556-47946567 chr8:47946554-47946565 chr8:47946554-47946567
5	CTCF	chr8:47955900-47956107	HepG2	liver:	n/a	n/a
6	CTCF	chr8:47955945-47956058	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr8:47955900-47956050	GM12864	blood:	n/a	n/a
8	CTCF	chr8:47955900-47956150	NB4	blood:	n/a	n/a
9	CTCF	chr8:47955880-47956030	GM12869	blood:	n/a	n/a
10	CTCF	chr8:47955974-47956076	GM12892	blood:	n/a	n/a
11	CTCF	chr8:47962207-47962229	GM10266	blood:	n/a	n/a
12	CTCF	chr8:47955860-47956010	A549	lung:	n/a	n/a
13	CTCF	chr8:47955820-47955970	HCT-116	colon:	n/a	n/a
14	CTCF	chr8:47955964-47956045	A549	lung:	n/a	n/a
15	CTCF	chr8:47955903-47956145	HepG2	liver:	n/a	n/a
16	CTCF	chr8:47955874-47956142	MCF-7	breast:	n/a	n/a
17	CTCF	chr8:47955960-47956110	GM12865	blood:	n/a	n/a
18	CTCF	chr8:47955900-47956050	K562	blood:	n/a	n/a
19	CTCF	chr8:47955940-47956090	GM12864	blood:	n/a	n/a
20	CTCF	chr8:47955920-47956070	NHEK	skin:	n/a	n/a
21	CTCF	chr8:47951582-47951611	GM10266	blood:	n/a	n/a
22	CTCF	chr8:47955940-47956090	HEK293	kidney:	n/a	n/a
23	CTCF	chr8:47955948-47956086	MCF-7	breast:	n/a	n/a
24	CTCF	chr8:47955976-47956021	ProgFib	skin:	n/a	n/a
25	CTCF	chr8:47955916-47956077	GM12878	blood:	n/a	n/a
26	CTCF	chr8:47955920-47956070	GM12873	blood:	n/a	n/a
27	CTCF	chr8:47972303-47972346	Pancreas_OC	pancreas:	n/a	n/a
28	CTCF	chr8:47955868-47956152	GM12878	blood:	n/a	n/a
29	CTCF	chr8:47955732-47956252	MCF-7	breast:	n/a	n/a
30	CTCF	chr8:47955859-47956164	MCF-7	breast:	n/a	n/a
31	CTCF	chr8:47955951-47956058	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chr8:47955911-47956077	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr8:47956020-47956170	GM12871	blood:	n/a	n/a
34	CTCF	chr8:47955880-47956030	GM12873	blood:	n/a	n/a
35	CTCF	chr8:47956060-47956210	NHEK	skin:	n/a	n/a
36	CTCF	chr8:47955734-47956189	MCF-7	breast:	n/a	n/a
37	CTCF	chr8:47955980-47956078	GM13977	blood:	n/a	n/a
38	CTCF	chr8:47955946-47956072	GM19239	blood:	n/a	n/a
39	CTCF	chr8:47955856-47956239	HepG2	liver:	n/a	n/a
40	CTCF	chr8:47955920-47956070	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr8:47955916-47956118	K562	blood:	n/a	n/a
42	CTCF	chr8:47955949-47956062	NHEK	skin:	n/a	n/a
43	CTCF	chr8:47955920-47956070	BE2_C	brain:	n/a	n/a
44	CTCF	chr8:47955980-47956130	GM12878	blood:	n/a	n/a
45	CTCF	chr8:47944093-47944108	GM10248	blood:	n/a	n/a
46	CTCF	chr8:47955900-47956050	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr8:47955860-47956010	GM12872	blood:	n/a	n/a
48	CTCF	chr8:47955943-47956082	MCF-7	breast:	n/a	n/a
49	CTCF	chr8:47955920-47956070	HepG2	liver:	n/a	n/a
50	CTCF	chr8:47955920-47956070	GM12872	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:29720457..29721452-chr8:47957248..47957748,2	MCF-7	breast:
2	chr8:47868367..47869450-chr8:47955570..47956475,5	MCF-7	breast:
3	chr8:47916930..47917477-chr8:47955693..47956319,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-350F16.2.1-6	chr8:47979644-47979946	NONHSAT126428

No data

Variant related genes	Relation type
RN7SKP32	TF binding region

Extended variants
information (count: 324 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56053947	chr8:47941422-47941423	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2454590	chr8:47941488-47941489	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs560916255	chr8:47941506-47941507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577345596	chr8:47941559-47941560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367741131	chr8:47941585-47941586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546643007	chr8:47941597-47941598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528767153	chr8:47945401-47945402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs190522489	chr8:47945404-47945405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs565309063	chr8:47945405-47945406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs138035514	chr8:47945414-47945415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs967625	chr8:47945418-47945419	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569520661	chr8:47945477-47945478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs117661707	chr8:47945483-47945484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs555521715	chr8:47945510-47945511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs79537233	chr8:47945518-47945519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs370424754	chr8:47945524-47945525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs73578999	chr8:47945541-47945542	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs183054635	chr8:47945553-47945554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs578040588	chr8:47945638-47945639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs376090890	chr8:47945695-47945696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs187339143	chr8:47945708-47945709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs10104075	chr8:47945715-47945716	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531023542	chr8:47945748-47945749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs375449862	chr8:47945768-47945769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs542887947	chr8:47945769-47945770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs561511403	chr8:47945783-47945784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs192983355	chr8:47945784-47945785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs367799855	chr8:47945844-47945845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs369709018	chr8:47945857-47945858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs565349772	chr8:47945899-47945900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs182900025	chr8:47945917-47945918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs550961568	chr8:47945935-47945936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569454733	chr8:47945946-47945947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs537125978	chr8:47945949-47945950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs548924850	chr8:47945955-47945956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs567417792	chr8:47945973-47945974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs78889805	chr8:47945980-47945981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs368661282	chr8:47945981-47945982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs553256999	chr8:47946035-47946036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs577995340	chr8:47946057-47946058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs76125073	chr8:47946096-47946097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs529839867	chr8:47946119-47946120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs575678221	chr8:47946155-47946156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs543079695	chr8:47946163-47946164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs576525289	chr8:47946184-47946185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs187923208	chr8:47946198-47946199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs573348549	chr8:47946200-47946201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs560847817	chr8:47946289-47946290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs540530231	chr8:47946304-47946305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs192166132	chr8:47946337-47946338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47941400-47941600	Enhancers	HSMM	muscle
2	chr8:47945400-47946600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr8:47955000-47955200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:47955000-47955800	Enhancers	K562	blood
5	chr8:47955400-47956200	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:47955600-47955800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:47956800-47957000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:47960400-47962600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:47961200-47961600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:47962200-47962400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr8:47962400-47962800	Enhancers	Placenta	Placenta
12	chr8:47968800-47969000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:47971600-47972600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:47972000-47972400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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