Variant report

Variant	esv3413003
Chromosome Location	chr5:177207696-177209994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr5:177209512-177209875	K562	blood:	n/a	n/a
2	CBX3	chr5:177209565-177209833	K562	blood:	n/a	n/a
3	CTCF	chr5:177209214-177209253	Lung_OC	lung:	n/a	n/a
4	CTCF	chr5:177208101-177208143	GM13976	blood:	n/a	n/a
5	EBF1	chr5:177209877-177210244	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:177209940-177210220	A549	lung:	n/a	n/a
7	POLR2A	chr5:177209980-177210245	A549	lung:	n/a	n/a
8	POLR2A	chr5:177209861-177210101	A549	lung:	n/a	n/a
9	POLR2A	chr5:177209943-177210280	A549	lung:	n/a	n/a
10	TCF3	chr5:177209790-177210059	GM12878	blood:	n/a	chr5:177209862-177209878
11	ZBTB33	chr5:177209560-177209809	K562	blood:	n/a	n/a
12	ZBTB33	chr5:177209478-177209959	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177209947-177209997	ovcar-3	ovarian:	n/a
2	chr5:177209285-177209335	BE2_C	brain:	n/a
3	chr5:177209285-177209335	HIPEpiC	eye:	n/a
4	chr5:177209947-177209997	H1-hESC	embryonic stem cell:	embryo
5	chr5:177209947-177209997	NT2-D1	testis:	n/a
6	chr5:177209285-177209335	NHBE	bronchial:	n/a
7	chr5:177209285-177209335	HEEpiC	esophagus:	n/a
8	chr5:177209947-177209997	AG04450	lung:	fetal
9	chr5:177209285-177209335	Caco-2	colon:	n/a
10	chr5:177209285-177209335	PFSK-1	brain:	n/a
11	chr5:177209947-177209997	MCF10A-Er-Src	breast:	n/a
12	chr5:177209285-177209335	BJ	skin:	n/a
13	chr5:177209285-177209335	AG04449	skin:	fetal
14	chr5:177209947-177209997	U87	brain:	n/a
15	chr5:177209285-177209335	A549	lung:	n/a
16	chr5:177209285-177209335	ProgFib	skin:	n/a
17	chr5:177209285-177209335	HPAEpiC	pulmonary alveolar:	n/a
18	chr5:177209285-177209335	AG09319	gingival:	n/a
19	chr5:177209947-177209997	GM12878	blood:	n/a
20	chr5:177209285-177209335	HRE	kidney:	n/a
21	chr5:177209947-177209997	PrEC	prostate:	n/a
22	chr5:177209947-177209997	GM06990	blood:	n/a
23	chr5:177209947-177209997	AG10803	skin:	n/a
24	chr5:177209285-177209335	RPTEC	kidney:	n/a
25	chr5:177209947-177209997	HRE	kidney:	n/a
26	chr5:177209285-177209335	SAEC	small airway:	n/a
27	chr5:177209947-177209997	AG09319	gingival:	n/a
28	chr5:177209285-177209335	PANC-1	pancreas:	n/a
29	chr5:177209285-177209335	AG10803	skin:	n/a
30	chr5:177209947-177209997	HEEpiC	esophagus:	n/a
31	chr5:177209947-177209997	AG09309	skin:	n/a
32	chr5:177209947-177209997	Hela-S3	cervix:	n/a
33	chr5:177209947-177209997	HAEpiC	amniotic membrane:	n/a
34	chr5:177209285-177209335	Hepatocyte	liver:	n/a
35	chr5:177209947-177209997	Jurkat	blood:	n/a
36	chr5:177209285-177209335	AoSMC	blood vessel:	n/a
37	chr5:177209947-177209997	NHBE	bronchial:	n/a
38	chr5:177209947-177209997	HNPCEpiC	eye:	n/a
39	chr5:177209947-177209997	HCPEpiC	choroid plexus:	n/a
40	chr5:177209947-177209997	SK-N-SH_RA	brain:	n/a
41	chr5:177209285-177209335	CMK	blood:	n/a
42	chr5:177209285-177209335	NB4	blood:	n/a
43	chr5:177209947-177209997	GM12891	blood:	n/a
44	chr5:177209285-177209335	GM12891	blood:	n/a
45	chr5:177209285-177209335	SKMC	muscle:	n/a
46	chr5:177209285-177209335	T-47D	breast:	n/a
47	chr5:177209947-177209997	SK-N-SH	brain:	n/a
48	chr5:177209285-177209335	GM12892	blood:	n/a
49	chr5:177209947-177209997	BJ	skin:	n/a
50	chr5:177209285-177209335	AG04450	lung:	fetal

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM193B-7	chr5:177208586-177208685	NONHSAT105467
2	lnc-FAM193B-7	chr5:177209744-177209814	NONHSAT105468

No data

Variant related genes	Relation type
FAM153A	TF binding region
ENSG00000249109	TF binding region
FAM153A	CpG island
ENSG00000249109	CpG island

Extended variants
information (count: 22 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572922280	chr5:177209038-177209039	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs540197868	chr5:177209053-177209054	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs377646207	chr5:177209097-177209098	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs565044983	chr5:177209114-177209115	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs191273776	chr5:177209254-177209255	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs376066678	chr5:177209321-177209322	Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs532638292	chr5:177209323-177209324	Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs550936410	chr5:177209350-177209351	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs28450227	chr5:177209382-177209383	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs530356456	chr5:177209431-177209432	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs62399978	chr5:177209510-177209511	Active TSS Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs28588700	chr5:177209585-177209586	Active TSS Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs75196305	chr5:177209661-177209662	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs111419142	chr5:177209662-177209663	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs79321202	chr5:177209671-177209672	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs28594523	chr5:177209681-177209682	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs200447169	chr5:177209689-177209690	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs28624801	chr5:177209700-177209701	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs181125595	chr5:177209777-177209778	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs371953256	chr5:177209787-177209788	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs375396375	chr5:177209824-177209825	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs375550869	chr5:177209902-177209903	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	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
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
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177209000-177209800	Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr5:177209400-177209600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:177209400-177209600	Enhancers	Pancreas	Pancrea
4	chr5:177209400-177209800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:177209400-177209800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
6	chr5:177209400-177210200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:177209400-177210400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr5:177209400-177210400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr5:177209400-177210600	Active TSS	Ovary	ovary
10	chr5:177209600-177209800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:177209600-177209800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr5:177209600-177210400	Active TSS	Primary T cells fromperipheralblood	blood
13	chr5:177209800-177210400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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