Variant report

Variant	nsv968285
Chromosome Location	chr5:178946894-178952711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:178946784-178946896	GM12878	blood:	n/a	n/a
2	CTCF	chr5:178951246-178951383	Medullo	brain:	n/a	n/a
3	CTCF	chr5:178951944-178951987	GM10266	blood:	n/a	n/a
4	CTCF	chr5:178952020-178952087	Kidney_OC	kidney:	n/a	n/a
5	POLR2A	chr5:178947953-178948026	K562	blood:	n/a	n/a
6	POLR2A	chr5:178950629-178950808	GM12878	blood:	n/a	n/a
7	SETDB1	chr5:178948381-178948533	U2OS	brain:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178950795-178950845	CMK	blood:	n/a
2	chr5:178950855-178950905	NB4	blood:	n/a
3	chr5:178950855-178950905	GM06990	blood:	n/a
4	chr5:178950855-178950905	HL-60	blood:	n/a
5	chr5:178950795-178950845	ProgFib	skin:	n/a
6	chr5:178950855-178950905	H1-hESC	embryonic stem cell:	embryo
7	chr5:178950855-178950905	ECC-1	luminal epithelium:	n/a
8	chr5:178950795-178950845	HRE	kidney:	n/a
9	chr5:178950855-178950905	HCM	heart:	n/a
10	chr5:178950795-178950845	GM12892	blood:	n/a
11	chr5:178950855-178950905	ProgFib	skin:	n/a
12	chr5:178950795-178950845	PANC-1	pancreas:	n/a
13	chr5:178950795-178950845	Caco-2	colon:	n/a
14	chr5:178950795-178950845	NHBE	bronchial:	n/a
15	chr5:178950795-178950845	NB4	blood:	n/a
16	chr5:178950855-178950905	GM12891	blood:	n/a
17	chr5:178950795-178950845	AG04450	lung:	fetal
18	chr5:178950795-178950845	ovcar-3	ovarian:	n/a
19	chr5:178950795-178950845	ECC-1	luminal epithelium:	n/a
20	chr5:178950855-178950905	HRCEpiC	kidney:	n/a
21	chr5:178950795-178950845	AG09309	skin:	n/a
22	chr5:178950795-178950845	GM06990	blood:	n/a
23	chr5:178950855-178950905	Caco-2	colon:	n/a
24	chr5:178950795-178950845	BE2_C	brain:	n/a
25	chr5:178950795-178950845	LNCaP	prostate:	n/a
26	chr5:178950795-178950845	HIPEpiC	eye:	n/a
27	chr5:178950855-178950905	IMR90	lung:	fetal
28	chr5:178950795-178950845	Jurkat	blood:	n/a
29	chr5:178950855-178950905	PrEC	prostate:	n/a
30	chr5:178950855-178950905	Jurkat	blood:	n/a
31	chr5:178950795-178950845	AG10803	skin:	n/a
32	chr5:178950795-178950845	HRCEpiC	kidney:	n/a
33	chr5:178950855-178950905	HEEpiC	esophagus:	n/a
34	chr5:178950795-178950845	HepG2	liver:	n/a
35	chr5:178950795-178950845	HRPEpiC	eye:	n/a
36	chr5:178950795-178950845	SKMC	muscle:	n/a
37	chr5:178950855-178950905	NH-A	brain:	n/a
38	chr5:178950855-178950905	Hela-S3	cervix:	n/a
39	chr5:178950795-178950845	AG09319	gingival:	n/a
40	chr5:178950795-178950845	MCF10A-Er-Src	breast:	n/a
41	chr5:178950855-178950905	SK-N-SH	brain:	n/a
42	chr5:178950855-178950905	MCF-7	breast:	n/a
43	chr5:178950855-178950905	A549	lung:	n/a
44	chr5:178950795-178950845	HEEpiC	esophagus:	n/a
45	chr5:178950795-178950845	GM19239	blood:	n/a
46	chr5:178950855-178950905	SK-N-MC	brain:	n/a
47	chr5:178950855-178950905	AG04450	lung:	fetal
48	chr5:178950855-178950905	HUVEC	blood vessel:	n/a
49	chr5:178950795-178950845	SK-N-MC	brain:	n/a
50	chr5:178950795-178950845	HCT-116	colon:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178951884..178954426-chr5:179031332..179033126,2	MCF-7	breast:
2	chr5:178951958..178953490-chr5:179038317..179039826,2	K562	blood:
3	chr5:178951455..178953105-chr5:179047683..179049374,2	MCF-7	breast:
4	chr5:178946216..178946980-chr5:179095346..179096018,3	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HNRNPH1-2	chr5:178951450-178952173	ENSG00000251657
2	lnc-RUFY1-4	chr5:178951021-178952136	NONHSAT105586
3	lnc-RUFY1-4	chr5:178950418-178950475	NONHSAT105586
4	lnc-RUFY1-4	chr5:178950374-178950475	NONHSAT105587
5	lnc-RUFY1-4	chr5:178951021-178952136	NONHSAT105587
6	lnc-RUFY1-4	chr5:178949401-178949705	NONHSAT105586
7	lnc-HNRNPH1-2	chr5:178949497-178950926	ENSG00000251657

No data

Variant related genes	Relation type
ENSG00000251545	TF binding region
ENSG00000253652	TF binding region
ENSG00000251545	CpG island
ENSG00000253652	CpG island
ENSG00000169045	chromatin interactions
GAPVD1	miRNA target sites
PIGU	miRNA target sites

Extended variants
information (count: 320 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:320 , 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	rs551792119	chr5:178946964-178946965	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs114462812	chr5:178946967-178946968	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs111751621	chr5:178946979-178946980	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191793224	chr5:178947000-178947001	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs570114610	chr5:178947010-178947011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558014474	chr5:178947044-178947045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537323920	chr5:178947143-178947144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185617406	chr5:178947218-178947219	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs567420069	chr5:178947232-178947233	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs534540040	chr5:178947244-178947245	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs552987569	chr5:178947256-178947257	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs571263522	chr5:178947275-178947276	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs12523551	chr5:178947281-178947282	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs144469618	chr5:178947328-178947329	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs574921380	chr5:178947350-178947351	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs147986643	chr5:178947351-178947352	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs112365235	chr5:178947352-178947353	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs574147447	chr5:178947358-178947359	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs377400764	chr5:178947366-178947367	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs541266506	chr5:178947371-178947372	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs559939045	chr5:178947376-178947377	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs142313648	chr5:178947380-178947381	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs545550057	chr5:178947385-178947386	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs145934534	chr5:178947392-178947393	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs191298391	chr5:178947393-178947394	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs542305694	chr5:178947398-178947399	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs567452314	chr5:178947407-178947408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546436495	chr5:178947424-178947425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139984957	chr5:178947471-178947472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150774802	chr5:178947479-178947480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573086886	chr5:178947482-178947483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571466121	chr5:178947484-178947485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538324528	chr5:178947500-178947501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556670016	chr5:178947520-178947521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111616635	chr5:178947521-178947522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577329214	chr5:178947528-178947529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144666163	chr5:178947529-178947530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374794843	chr5:178947531-178947532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565547034	chr5:178947541-178947542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535865570	chr5:178947618-178947619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139123370	chr5:178947659-178947660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6862387	chr5:178947661-178947662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs541757716	chr5:178947709-178947710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553272768	chr5:178947711-178947712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556293354	chr5:178947722-178947723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578151710	chr5:178947727-178947728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544556340	chr5:178947729-178947730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545484831	chr5:178947747-178947748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563795308	chr5:178947778-178947779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182659186	chr5:178947779-178947780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178943600-178949000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:178946600-178947000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr5:178946600-178947000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:178946600-178947000	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr5:178946600-178947000	Flanking Active TSS	Fetal Brain Female	brain
6	chr5:178946600-178947000	Enhancers	Fetal Lung	lung
7	chr5:178946600-178947000	Enhancers	Thymus	Thymus
8	chr5:178946600-178947000	Enhancers	K562	blood
9	chr5:178946600-178947200	Enhancers	HepG2	liver
10	chr5:178946800-178947400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:178947000-178952600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:178947200-178947400	Bivalent Enhancer	HepG2	liver
13	chr5:178949000-178949400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:178949400-178956600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:178950600-178951000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:178951000-178957000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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