Variant report

Variant	esv3518846
Chromosome Location	chr5:177099446-177106844
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	CEBPB	chr5:177103493-177103545	K562	blood:	n/a	n/a
2	CTCF	chr5:177102198-177102433	A549	lung:	n/a	n/a
3	CTCF	chr5:177102283-177102439	GM19240	blood:	n/a	n/a
4	CTCF	chr5:177102316-177102433	Spleen_OC	spleen:	n/a	n/a
5	CTCF	chr5:177102258-177102450	GM19238	blood:	n/a	n/a
6	CTCF	chr5:177102291-177102422	Fibrobl	skin:	n/a	n/a
7	CTCF	chr5:177102247-177102527	A549	lung:	n/a	n/a
8	CTCF	chr5:177102279-177102438	NHEK	skin:	n/a	n/a
9	CTCF	chr5:177102250-177102455	MCF-7	breast:	n/a	n/a
10	CTCF	chr5:177102278-177102430	MCF-7	breast:	n/a	n/a
11	CTCF	chr5:177102259-177102440	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr5:177102363-177102390	MCF-7	breast:	n/a	n/a
13	CTCF	chr5:177102350-177102370	Pancreas_OC	pancreas:	n/a	n/a
14	CTCF	chr5:177102263-177102459	GM12878	blood:	n/a	n/a
15	CTCF	chr5:177102266-177102422	HepG2	liver:	n/a	n/a
16	CTCF	chr5:177102288-177102433	GM12892	blood:	n/a	n/a
17	CTCF	chr5:177102286-177102442	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr5:177102261-177102462	K562	blood:	n/a	n/a
19	CTCF	chr5:177102280-177102447	A549	lung:	n/a	n/a
20	CTCF	chr5:177102271-177102442	GM19239	blood:	n/a	n/a
21	CTCF	chr5:177102255-177102452	Gliobla	brain:	n/a	n/a
22	CTCF	chr5:177102324-177102426	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr5:177102109-177102470	A549	lung:	n/a	n/a
24	CTCF	chr5:177102393-177102434	Medullo	brain:	n/a	n/a
25	CTCF	chr5:177102287-177102424	ProgFib	skin:	n/a	n/a
26	CTCF	chr5:177102294-177102414	Lung_OC	lung:	n/a	n/a
27	EBF1	chr5:177100258-177100467	GM12878	blood:	n/a	n/a
28	EP300	chr5:177099369-177099557	GM12878	blood:	n/a	chr5:177099400-177099414
29	GATA2	chr5:177102141-177102525	K562	blood:	n/a	n/a
30	IRF1	chr5:177104844-177105019	K562	blood:	n/a	chr5:177104975-177104989 chr5:177104974-177104986 chr5:177104967-177104987 chr5:177104971-177104985 chr5:177104975-177104986 chr5:177104975-177104985 chr5:177104974-177104986 chr5:177104974-177104991
31	IRF1	chr5:177104948-177105025	K562	blood:	n/a	chr5:177104975-177104989 chr5:177104974-177104986 chr5:177104967-177104987 chr5:177104971-177104985 chr5:177104975-177104986 chr5:177104975-177104985 chr5:177104974-177104986 chr5:177104974-177104991
32	IRF4	chr5:177099460-177099818	GM12878	blood:	n/a	n/a
33	MYC	chr5:177099359-177099550	MCF-7	breast:	n/a	chr5:177099468-177099478
34	MYC	chr5:177099551-177099556	MCF-7	breast:	n/a	n/a
35	NR3C1	chr5:177104236-177104444	A549	lung:	n/a	chr5:177104342-177104360 chr5:177104344-177104358 chr5:177104424-177104431 chr5:177104343-177104359 chr5:177104341-177104362 chr5:177104343-177104359 chr5:177104343-177104359 chr5:177104343-177104359 chr5:177104343-177104360 chr5:177104344-177104358
36	NR3C1	chr5:177104240-177104490	A549	lung:	n/a	chr5:177104342-177104360 chr5:177104344-177104358 chr5:177104424-177104431 chr5:177104343-177104359 chr5:177104341-177104362 chr5:177104343-177104359 chr5:177104343-177104359 chr5:177104343-177104359 chr5:177104343-177104360 chr5:177104344-177104358
37	NR3C1	chr5:177104251-177104423	ECC-1	luminal epithelium:	n/a	chr5:177104342-177104360 chr5:177104344-177104358 chr5:177104343-177104359 chr5:177104341-177104362 chr5:177104343-177104359 chr5:177104343-177104359 chr5:177104343-177104359 chr5:177104343-177104360 chr5:177104344-177104358
38	PAX5	chr5:177099302-177099670	GM12878	blood:	n/a	chr5:177099446-177099464
39	PAX5	chr5:177099354-177099554	GM12878	blood:	n/a	chr5:177099446-177099464
40	PAX5	chr5:177099304-177099729	GM12878	blood:	n/a	chr5:177099446-177099464
41	PAX5	chr5:177099306-177099662	GM12878	blood:	n/a	chr5:177099446-177099464
42	POLR2A	chr5:177099278-177099598	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr5:177097700-177099900	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr5:177098314-177099549	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr5:177099416-177099468	A549	lung:	n/a	n/a
46	POLR2A	chr5:177098417-177099585	GM12878	blood:	n/a	n/a
47	POLR2A	chr5:177098445-177099499	MCF-7	breast:	n/a	n/a
48	POU2F2	chr5:177099311-177099747	GM12878	blood:	n/a	n/a
49	SPI1	chr5:177099373-177099598	GM12878	blood:	n/a	n/a
50	SPI1	chr5:177099374-177099578	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177103100-177103150	NT2-D1	testis:	n/a
2	chr5:177100428-177100478	SK-N-MC	brain:	n/a
3	chr5:177099644-177099694	AG04449	skin:	fetal
4	chr5:177100448-177100498	AG09309	skin:	n/a
5	chr5:177103100-177103150	LNCaP	prostate:	n/a
6	chr5:177100448-177100498	GM12891	blood:	n/a
7	chr5:177100448-177100498	CMK	blood:	n/a
8	chr5:177103100-177103150	HMEC	breast:	n/a
9	chr5:177100448-177100498	GM06990	blood:	n/a
10	chr5:177100448-177100498	GM12878	blood:	n/a
11	chr5:177099644-177099694	Jurkat	blood:	n/a
12	chr5:177100428-177100478	ProgFib	skin:	n/a
13	chr5:177103100-177103150	PANC-1	pancreas:	n/a
14	chr5:177100448-177100498	HCPEpiC	choroid plexus:	n/a
15	chr5:177103100-177103150	AG09309	skin:	n/a
16	chr5:177100428-177100478	HCM	heart:	n/a
17	chr5:177100428-177100478	AoSMC	blood vessel:	n/a
18	chr5:177099644-177099694	GM12892	blood:	n/a
19	chr5:177099644-177099694	Hepatocyte	liver:	n/a
20	chr5:177103100-177103150	HUVEC	blood vessel:	n/a
21	chr5:177100448-177100498	HRE	kidney:	n/a
22	chr5:177100448-177100498	HCF	heart:	n/a
23	chr5:177100448-177100498	BE2_C	brain:	n/a
24	chr5:177100448-177100498	HCT-116	colon:	n/a
25	chr5:177100448-177100498	AG04449	skin:	fetal
26	chr5:177100428-177100478	IMR90	lung:	fetal
27	chr5:177100448-177100498	SAEC	small airway:	n/a
28	chr5:177100448-177100498	NT2-D1	testis:	n/a
29	chr5:177103100-177103150	SK-N-SH	brain:	n/a
30	chr5:177103100-177103150	HL-60	blood:	n/a
31	chr5:177099644-177099694	ECC-1	luminal epithelium:	n/a
32	chr5:177100448-177100498	AG09319	gingival:	n/a
33	chr5:177103100-177103150	HAEpiC	amniotic membrane:	n/a
34	chr5:177100428-177100478	LNCaP	prostate:	n/a
35	chr5:177099644-177099694	HepG2	liver:	n/a
36	chr5:177099644-177099694	HCF	heart:	n/a
37	chr5:177103100-177103150	HRE	kidney:	n/a
38	chr5:177099644-177099694	HRE	kidney:	n/a
39	chr5:177103100-177103150	CMK	blood:	n/a
40	chr5:177103100-177103150	K562	blood:	n/a
41	chr5:177100448-177100498	AG10803	skin:	n/a
42	chr5:177103100-177103150	Hela-S3	cervix:	n/a
43	chr5:177100448-177100498	T-47D	breast:	n/a
44	chr5:177099644-177099694	GM12891	blood:	n/a
45	chr5:177099644-177099694	GM06990	blood:	n/a
46	chr5:177099644-177099694	AG09309	skin:	n/a
47	chr5:177100448-177100498	HRCEpiC	kidney:	n/a
48	chr5:177099644-177099694	NH-A	brain:	n/a
49	chr5:177103100-177103150	HCF	heart:	n/a
50	chr5:177100428-177100478	GM12892	blood:	n/a

Variant related genes	Relation type
ENSG00000249849	TF binding region
ENSG00000246596	TF binding region
ENSG00000249849	CpG island
ENSG00000246596	CpG island

Extended variants
information (count: 83 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368969585	chr5:177099610-177099611	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs62398500	chr5:177099623-177099624	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs566845362	chr5:177099689-177099690	Weak transcription Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs534415689	chr5:177099728-177099729	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs558854406	chr5:177099779-177099780	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs192391920	chr5:177099792-177099793	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs74955780	chr5:177099964-177099965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577480397	chr5:177100091-177100092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374026251	chr5:177100174-177100175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538179362	chr5:177100206-177100207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556414794	chr5:177100340-177100341	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs574141574	chr5:177100341-177100342	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs541414805	chr5:177100342-177100343	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs559823083	chr5:177100348-177100349	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs10075483	chr5:177100425-177100426	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs546002061	chr5:177100433-177100434	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs564092002	chr5:177100478-177100479	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs112900015	chr5:177100527-177100528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2650327	chr5:177100562-177100563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182236250	chr5:177100572-177100573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111309508	chr5:177100574-177100575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370855165	chr5:177100591-177100592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550130308	chr5:177100644-177100645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561963817	chr5:177100649-177100650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530159434	chr5:177100656-177100657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548564573	chr5:177100691-177100692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186913074	chr5:177100696-177100697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190669449	chr5:177100803-177100804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182524470	chr5:177100902-177100903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570982664	chr5:177100912-177100913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373183575	chr5:177100933-177100934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538045721	chr5:177100986-177100987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556479201	chr5:177100987-177100988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554431766	chr5:177102128-177102129	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs187683450	chr5:177102187-177102188	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs193236768	chr5:177102203-177102204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs10045871	chr5:177102261-177102262	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs567118725	chr5:177102282-177102283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs2650328	chr5:177102283-177102284	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs576166948	chr5:177102355-177102356	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs543647690	chr5:177102361-177102362	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs555565113	chr5:177102366-177102367	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs573863482	chr5:177102369-177102370	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs373898920	chr5:177102389-177102390	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs540992944	chr5:177102432-177102433	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs559592931	chr5:177102477-177102478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs184060768	chr5:177102481-177102482	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs536081129	chr5:177102502-177102503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs546138621	chr5:177102503-177102504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs184006879	chr5:177103100-177103101	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Thoracic aortic aneurysm	21092924	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
Autism	20841430	CNVD
Developmental delay	21147756	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
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177097400-177099600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
2	chr5:177097400-177100600	Weak transcription	Primary B cells from cord blood	blood
3	chr5:177098200-177099600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:177098200-177099600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:177098200-177099600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:177098200-177099600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:177098200-177099600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:177098200-177099600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:177098200-177099600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:177098200-177099600	Active TSS	Brain Germinal Matrix	brain
11	chr5:177098200-177099600	Active TSS	Fetal Stomach	stomach
12	chr5:177098200-177099600	Active TSS	Ovary	ovary
13	chr5:177098200-177099600	Active TSS	HSMM	muscle
14	chr5:177098200-177099600	Active TSS	Monocytes-CD14+_RO01746	blood
15	chr5:177098400-177099600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:177098400-177099600	Active TSS	Adipose Nuclei	Adipose
17	chr5:177098400-177099600	Active TSS	Dnd41	blood
18	chr5:177098800-177099800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:177099000-177099600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:177099000-177099600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr5:177099000-177099600	Active TSS	Fetal Muscle Trunk	muscle
22	chr5:177099000-177099600	Active TSS	HepG2	liver
23	chr5:177099000-177099600	Active TSS	HUVEC	blood vessel
24	chr5:177099000-177099600	Active TSS	NH-A	brain
25	chr5:177099000-177099600	Active TSS	NHLF	lung
26	chr5:177099000-177099600	Active TSS	Osteobl	bone
27	chr5:177099000-177099800	Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr5:177099200-177099800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr5:177099200-177101000	Enhancers	Primary B cells from peripheral blood	blood
30	chr5:177100600-177101000	Enhancers	Primary B cells from cord blood	blood
31	chr5:177104600-177105200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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