Variant report

Variant	esv2053928
Chromosome Location	chr5:177378123-177378445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177378100-177378150	MCF-7	breast:	n/a
2	chr5:177378100-177378150	GM06990	blood:	n/a
3	chr5:177378100-177378150	SK-N-SH_RA	brain:	n/a
4	chr5:177378100-177378150	HMEC	breast:	n/a
5	chr5:177378100-177378150	AoSMC	blood vessel:	n/a
6	chr5:177378100-177378150	HUVEC	blood vessel:	n/a
7	chr5:177378100-177378150	HRE	kidney:	n/a
8	chr5:177378100-177378150	NB4	blood:	n/a
9	chr5:177378100-177378150	HNPCEpiC	eye:	n/a
10	chr5:177378100-177378150	Caco-2	colon:	n/a
11	chr5:177378100-177378150	HEK293	kidney:	embryo
12	chr5:177378100-177378150	HPAEpiC	pulmonary alveolar:	n/a
13	chr5:177378100-177378150	HEEpiC	esophagus:	n/a
14	chr5:177378100-177378150	AG09319	gingival:	n/a
15	chr5:177378100-177378150	K562	blood:	n/a
16	chr5:177378100-177378150	RPTEC	kidney:	n/a
17	chr5:177378100-177378150	PANC-1	pancreas:	n/a
18	chr5:177378100-177378150	HAEpiC	amniotic membrane:	n/a
19	chr5:177378100-177378150	Hela-S3	cervix:	n/a
20	chr5:177378100-177378150	SAEC	small airway:	n/a
21	chr5:177378100-177378150	Hepatocyte	liver:	n/a
22	chr5:177378100-177378150	BJ	skin:	n/a
23	chr5:177378100-177378150	ProgFib	skin:	n/a
24	chr5:177378100-177378150	A549	lung:	n/a
25	chr5:177378100-177378150	HCPEpiC	choroid plexus:	n/a
26	chr5:177378100-177378150	NHDF-neo	bronchial:	n/a
27	chr5:177378100-177378150	HIPEpiC	eye:	n/a
28	chr5:177378100-177378150	HCF	heart:	n/a
29	chr5:177378100-177378150	HCM	heart:	n/a
30	chr5:177378100-177378150	LNCaP	prostate:	n/a
31	chr5:177378100-177378150	HepG2	liver:	n/a
32	chr5:177378100-177378150	PFSK-1	brain:	n/a
33	chr5:177378100-177378150	HRPEpiC	eye:	n/a
34	chr5:177378100-177378150	GM19239	blood:	n/a
35	chr5:177378100-177378150	GM12892	blood:	n/a
36	chr5:177378100-177378150	AG04450	lung:	fetal
37	chr5:177378100-177378150	AG04449	skin:	fetal
38	chr5:177378100-177378150	SK-N-SH	brain:	n/a
39	chr5:177378100-177378150	AG09309	skin:	n/a
40	chr5:177378100-177378150	PrEC	prostate:	n/a
41	chr5:177378100-177378150	T-47D	breast:	n/a
42	chr5:177378100-177378150	NHBE	bronchial:	n/a
43	chr5:177378100-177378150	SK-N-MC	brain:	n/a
44	chr5:177378100-177378150	GM12878	blood:	n/a
45	chr5:177378100-177378150	H1-hESC	embryonic stem cell:	embryo
46	chr5:177378100-177378150	GM12891	blood:	n/a
47	chr5:177378100-177378150	SKMC	muscle:	n/a
48	chr5:177378100-177378150	HCT-116	colon:	n/a
49	chr5:177378100-177378150	ECC-1	luminal epithelium:	n/a
50	chr5:177378100-177378150	HL-60	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM153C-4	chr5:177378414-177378519	ENSG00000249684.1

No data

Variant related genes	Relation type
ENSG00000249684	CpG island

Extended variants
information (count: 21 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4958948	chr5:177378145-177378146	Weak transcription Strong transcription	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149409921	chr5:177378170-177378171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4959000	chr5:177378184-177378185	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543092947	chr5:177378200-177378201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561316552	chr5:177378232-177378233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193045812	chr5:177378259-177378260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13157329	chr5:177378264-177378265	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547086947	chr5:177378271-177378272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537831459	chr5:177378288-177378289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554416463	chr5:177378290-177378291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13157464	chr5:177378298-177378299	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532571502	chr5:177378318-177378319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13162196	chr5:177378324-177378325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190225706	chr5:177378326-177378327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141127725	chr5:177378348-177378349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554302269	chr5:177378359-177378360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13172879	chr5:177378366-177378367	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533523517	chr5:177378367-177378368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558621048	chr5:177378396-177378397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535584323	chr5:177378400-177378401	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs576970585	chr5:177378434-177378435	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Breast cancer	22522925	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177366400-177378800	Weak transcription	Fetal Intestine Small	intestine
2	chr5:177368200-177396400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:177371000-177381800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:177371000-177393000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:177371600-177378800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:177371600-177383800	Weak transcription	Liver	Liver
7	chr5:177371600-177385200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:177371600-177389600	Weak transcription	Brain Germinal Matrix	brain
9	chr5:177371800-177378400	Weak transcription	Spleen	Spleen
10	chr5:177371800-177378600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:177371800-177378600	Weak transcription	NHLF	lung
12	chr5:177371800-177380600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:177371800-177384200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:177371800-177387400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:177371800-177387600	Weak transcription	Pancreas	Pancrea
16	chr5:177371800-177387800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:177371800-177388200	Weak transcription	Gastric	stomach
18	chr5:177371800-177390200	Weak transcription	Primary T cells from cord blood	blood
19	chr5:177371800-177390800	Weak transcription	Ovary	ovary
20	chr5:177371800-177392800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:177371800-177394200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:177371800-177394200	Weak transcription	Right Ventricle	heart
23	chr5:177372000-177381800	Weak transcription	Lung	lung
24	chr5:177372000-177382800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:177372000-177385200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:177372000-177385400	Weak transcription	NHDF-Ad	bronchial
27	chr5:177372200-177378400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr5:177372200-177379400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:177372200-177390000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:177372400-177385600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:177372600-177385600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:177372600-177388200	Weak transcription	Esophagus	oesophagus
33	chr5:177374000-177378400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:177374200-177384400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:177374400-177385200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:177375200-177387600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:177375400-177385200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr5:177375400-177385200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr5:177375600-177381000	Weak transcription	Thymus	Thymus
40	chr5:177376800-177378600	Weak transcription	Fetal Stomach	stomach
41	chr5:177377200-177379200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr5:177377400-177379200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr5:177378000-177388400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr5:177378400-177379200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:177378400-177379200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr5:177378400-177379200	ZNF genes & repeats	Spleen	Spleen

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