Variant report

Variant	esv3322005
Chromosome Location	chr5:177364896-177365844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr5:177365400-177365624	K562	blood:	n/a	chr5:177365533-177365546

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177365747-177365797	Hela-S3	cervix:	n/a
2	chr5:177365747-177365797	RPTEC	kidney:	n/a
3	chr5:177365747-177365797	H1-hESC	embryonic stem cell:	embryo
4	chr5:177365747-177365797	AoSMC	blood vessel:	n/a
5	chr5:177365747-177365797	NT2-D1	testis:	n/a
6	chr5:177365747-177365797	HCM	heart:	n/a
7	chr5:177365747-177365797	HEEpiC	esophagus:	n/a
8	chr5:177365747-177365797	U87	brain:	n/a
9	chr5:177365747-177365797	LNCaP	prostate:	n/a
10	chr5:177365747-177365797	K562	blood:	n/a
11	chr5:177365747-177365797	BJ	skin:	n/a
12	chr5:177365747-177365797	AG10803	skin:	n/a
13	chr5:177365747-177365797	PrEC	prostate:	n/a
14	chr5:177365747-177365797	BE2_C	brain:	n/a
15	chr5:177365747-177365797	Caco-2	colon:	n/a
16	chr5:177365747-177365797	GM12878	blood:	n/a
17	chr5:177365747-177365797	AG09309	skin:	n/a
18	chr5:177365747-177365797	HAEpiC	amniotic membrane:	n/a
19	chr5:177365747-177365797	AG04449	skin:	fetal
20	chr5:177365747-177365797	AG04450	lung:	fetal
21	chr5:177365747-177365797	ECC-1	luminal epithelium:	n/a
22	chr5:177365747-177365797	IMR90	lung:	fetal
23	chr5:177365747-177365797	GM06990	blood:	n/a
24	chr5:177365747-177365797	Hepatocyte	liver:	n/a
25	chr5:177365747-177365797	A549	lung:	n/a
26	chr5:177365747-177365797	GM12892	blood:	n/a
27	chr5:177365747-177365797	Jurkat	blood:	n/a
28	chr5:177365747-177365797	AG09319	gingival:	n/a
29	chr5:177365747-177365797	HNPCEpiC	eye:	n/a
30	chr5:177365747-177365797	NHBE	bronchial:	n/a
31	chr5:177365747-177365797	MCF-7	breast:	n/a
32	chr5:177365747-177365797	CMK	blood:	n/a
33	chr5:177365747-177365797	HMEC	breast:	n/a
34	chr5:177365747-177365797	HRCEpiC	kidney:	n/a
35	chr5:177365747-177365797	HCF	heart:	n/a
36	chr5:177365747-177365797	HCT-116	colon:	n/a
37	chr5:177365747-177365797	PFSK-1	brain:	n/a
38	chr5:177365747-177365797	HRPEpiC	eye:	n/a
39	chr5:177365747-177365797	ovcar-3	ovarian:	n/a
40	chr5:177365747-177365797	SK-N-SH	brain:	n/a
41	chr5:177365747-177365797	HepG2	liver:	n/a
42	chr5:177365747-177365797	ProgFib	skin:	n/a
43	chr5:177365747-177365797	T-47D	breast:	n/a
44	chr5:177365747-177365797	NH-A	brain:	n/a
45	chr5:177365747-177365797	SKMC	muscle:	n/a
46	chr5:177365747-177365797	PANC-1	pancreas:	n/a
47	chr5:177365747-177365797	SK-N-MC	brain:	n/a
48	chr5:177365747-177365797	HIPEpiC	eye:	n/a
49	chr5:177365747-177365797	HPAEpiC	pulmonary alveolar:	n/a
50	chr5:177365747-177365797	SK-N-SH_RA	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000250101	TF binding region
ENSG00000250101	CpG island

Extended variants
information (count: 58 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529267860	chr5:177364975-177364976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191240775	chr5:177365025-177365026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76082920	chr5:177365041-177365042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528091990	chr5:177365062-177365063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75208267	chr5:177365107-177365108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78152078	chr5:177365108-177365109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79551413	chr5:177365114-177365115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377428988	chr5:177365118-177365119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79813014	chr5:177365122-177365123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371100970	chr5:177365125-177365126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540875978	chr5:177365131-177365132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564643177	chr5:177365132-177365133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532040788	chr5:177365133-177365134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74504270	chr5:177365134-177365135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78985376	chr5:177365135-177365136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568958386	chr5:177365136-177365137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536573445	chr5:177365140-177365141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374838423	chr5:177365145-177365146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367826307	chr5:177365146-177365147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9764413	chr5:177365152-177365153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548170449	chr5:177365161-177365162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566736365	chr5:177365162-177365163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75725815	chr5:177365163-177365164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79256913	chr5:177365179-177365180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372328120	chr5:177365181-177365182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186659021	chr5:177365194-177365195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553354754	chr5:177365200-177365201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79917112	chr5:177365206-177365207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571777733	chr5:177365215-177365216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538748023	chr5:177365216-177365217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375573320	chr5:177365254-177365255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368849367	chr5:177365270-177365271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9764603	chr5:177365280-177365281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9763537	chr5:177365287-177365288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9764121	chr5:177365301-177365302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62397795	chr5:177365308-177365309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575733471	chr5:177365335-177365336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183416450	chr5:177365361-177365362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114411827	chr5:177365368-177365369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115048620	chr5:177365381-177365382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539854008	chr5:177365490-177365491	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs530551702	chr5:177365497-177365498	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs550147909	chr5:177365542-177365543	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs532125542	chr5:177365573-177365574	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs530334558	chr5:177365583-177365584	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs117977479	chr5:177365587-177365588	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs529861823	chr5:177365589-177365590	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs200980829	chr5:177365650-177365651	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs114834455	chr5:177365696-177365697	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs566773297	chr5:177365701-177365702	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177357400-177365400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:177357800-177365600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:177358000-177365800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:177358000-177365800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:177362000-177365400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:177364600-177365000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:177364800-177365600	Weak transcription	Pancreas	Pancrea
8	chr5:177364800-177366200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr5:177365000-177365400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:177365200-177366000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr5:177365400-177365600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr5:177365400-177365800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:177365400-177365800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr5:177365400-177365800	Enhancers	Placenta	Placenta
15	chr5:177365400-177366000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:177365400-177366200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:177365400-177366200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:177365400-177366200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:177365400-177366200	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr5:177365600-177365800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:177365600-177365800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:177365600-177365800	Enhancers	Pancreas	Pancrea
23	chr5:177365600-177366000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr5:177365600-177366000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr5:177365600-177366000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr5:177365600-177366000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:177365600-177366000	Bivalent Enhancer	Fetal Brain Female	brain
28	chr5:177365600-177366000	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr5:177365600-177366200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr5:177365600-177366200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr5:177365600-177366200	Bivalent Enhancer	Fetal Stomach	stomach
32	chr5:177365600-177366400	Enhancers	Primary B cells from peripheral blood	blood
33	chr5:177365600-177366800	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr5:177365600-177366800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr5:177365600-177366800	Enhancers	Primary B cells from cord blood	blood
36	chr5:177365600-177367000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:177365600-177368200	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr5:177365800-177366000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr5:177365800-177366000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:177365800-177366000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chr5:177365800-177366000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:177365800-177366000	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr5:177365800-177366200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:177365800-177366200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:177365800-177366200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:177365800-177366200	Enhancers	Primary T cells from cord blood	blood
47	chr5:177365800-177366200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:177365800-177366200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:177365800-177366200	Enhancers	Liver	Liver
50	chr5:177365800-177366200	Bivalent Enhancer	Fetal Brain Male	brain

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