Variant report

Variant	nsv10784
Chromosome Location	chr5:178942272-178944739
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:178944660-178944810	HBMEC	blood vessel:	n/a	n/a
2	EGR1	chr5:178943722-178944360	GM12878	blood:	n/a	n/a
3	GABPA	chr5:178943832-178944289	GM12878	blood:	n/a	n/a
4	IRF4	chr5:178943792-178944382	GM12878	blood:	n/a	n/a
5	NR3C1	chr5:178943752-178944205	A549	lung:	n/a	n/a
6	PAX5	chr5:178943793-178944387	GM12878	blood:	n/a	n/a
7	ZBTB33	chr5:178943807-178944097	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HNRNPH1-3	chr5:178942465-178942580	ENSG00000253652

Variant related genes	Relation type
ENSG00000251545	TF binding region
ENSG00000253652	TF binding region

Extended variants
information (count: 149 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371361683	chr5:178942274-178942275	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs200001905	chr5:178942300-178942301	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs78318196	chr5:178942313-178942314	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs538942821	chr5:178942327-178942328	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs536944001	chr5:178942339-178942340	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs190898874	chr5:178942352-178942353	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs71596430	chr5:178942359-178942360	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs556325173	chr5:178942360-178942361	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs13154965	chr5:178942364-178942365	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs57688314	chr5:178942432-178942433	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs200150511	chr5:178942452-178942453	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs555052782	chr5:178942461-178942462	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs573382669	chr5:178942462-178942463	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs540759638	chr5:178942486-178942487	Active TSS Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs375297813	chr5:178942509-178942510	Active TSS Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs565129107	chr5:178942630-178942631	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547387221	chr5:178942632-178942633	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577205191	chr5:178942636-178942637	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187593239	chr5:178942643-178942644	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs57517517	chr5:178942649-178942650	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs562466342	chr5:178942651-178942652	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs58257619	chr5:178942652-178942653	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs200982658	chr5:178942663-178942664	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182782558	chr5:178942671-178942672	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs59054269	chr5:178942672-178942673	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28664655	chr5:178942675-178942676	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs1319932	chr5:178942686-178942687	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs55912558	chr5:178942735-178942736	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1319933	chr5:178942741-178942742	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368071748	chr5:178942745-178942746	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550068810	chr5:178942752-178942753	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs59991173	chr5:178942779-178942780	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76595122	chr5:178942783-178942784	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77267815	chr5:178942787-178942788	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141979545	chr5:178942814-178942815	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559957816	chr5:178942830-178942831	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201784075	chr5:178942844-178942845	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376362003	chr5:178942896-178942897	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71749124	chr5:178942897-178942898	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374116219	chr5:178942899-178942900	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371779784	chr5:178942911-178942912	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115642471	chr5:178942936-178942937	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570336761	chr5:178942949-178942950	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537862459	chr5:178942967-178942968	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28551539	chr5:178942996-178942997	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs188849383	chr5:178943000-178943001	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369788658	chr5:178943002-178943003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372637997	chr5:178943016-178943017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200226065	chr5:178943036-178943037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536800655	chr5:178943039-178943040	Weak transcription Enhancers	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178933000-178943200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:178940400-178943000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:178941000-178946800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:178942000-178943600	Enhancers	HepG2	liver
5	chr5:178942200-178942400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:178942200-178942400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr5:178942200-178942400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:178942200-178942400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
9	chr5:178942200-178942400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr5:178942200-178943200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:178942400-178942600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr5:178942400-178943000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr5:178942600-178942800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr5:178942800-178943600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:178943200-178943400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:178943200-178943600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:178943400-178943600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:178943600-178944600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:178943600-178946600	Weak transcription	HepG2	liver
20	chr5:178943600-178949000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:178944600-178944800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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