Variant report

Variant	esv3447343
Chromosome Location	chr5:177378396-177382794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
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	BCL11A	chr5:177382431-177382600	GM12878	blood:	n/a	n/a
2	BHLHE40	chr5:177382002-177382214	GM12878	blood:	n/a	n/a
3	CTCF	chr5:177378808-177378864	GM10266	blood:	n/a	n/a
4	CTCF	chr5:177378756-177378823	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr5:177382307-177382384	GM13976	blood:	n/a	n/a
6	EBF1	chr5:177381879-177382718	GM12878	blood:	n/a	chr5:177382509-177382520
7	EBF1	chr5:177382327-177382652	GM12878	blood:	n/a	chr5:177382509-177382520
8	EBF1	chr5:177382341-177382610	GM12878	blood:	n/a	chr5:177382509-177382520
9	POLR2A	chr5:177382295-177382374	K562	blood:	n/a	n/a
10	POLR2A	chr5:177380412-177380604	MCF-7	breast:	n/a	n/a
11	RAD21	chr5:177378608-177378720	A549	lung:	n/a	n/a
12	TBL1XR1	chr5:177382406-177382494	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM153C-4	chr5:177378718-177378957	ENSG00000249684.1
2	lnc-FAM153C-4	chr5:177378414-177378519	ENSG00000249684.1
3	lnc-FAM153C-4	chr5:177378949-177378957	ENSG00000249684.1
4	lnc-FAM153C-4	chr5:177378718-177378957	ENSG00000249684.1
5	lnc-FAM153C-4	chr5:177380166-177380293	ENSG00000249684.1
6	lnc-FAM153C-5	chr5:177378718-177378957	NONHSAT105484

No data

Variant related genes	Relation type
ENSG00000249684	TF binding region

Extended variants
information (count: 275 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558621048	chr5:177378396-177378397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535584323	chr5:177378400-177378401	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs576970585	chr5:177378434-177378435	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
4	rs544460873	chr5:177378450-177378451	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
5	rs112300091	chr5:177378468-177378469	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
6	rs556393376	chr5:177378471-177378472	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
7	rs375510898	chr5:177378483-177378484	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
8	rs548808371	chr5:177378489-177378490	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
9	rs565630004	chr5:177378509-177378510	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
10	rs112017929	chr5:177378520-177378521	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs113306731	chr5:177378533-177378534	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs185320475	chr5:177378560-177378561	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs574816239	chr5:177378568-177378569	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs13157845	chr5:177378571-177378572	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs200589913	chr5:177378575-177378576	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs528509755	chr5:177378579-177378580	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs7716695	chr5:177378599-177378600	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112895466	chr5:177378603-177378604	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs112838765	chr5:177378604-177378605	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs532466049	chr5:177378608-177378609	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs369174005	chr5:177378611-177378612	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs550789861	chr5:177378622-177378623	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs142953880	chr5:177378627-177378628	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs569093820	chr5:177378636-177378637	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs367995777	chr5:177378654-177378655	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs59473636	chr5:177378655-177378656	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs59342498	chr5:177378662-177378663	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs190879288	chr5:177378664-177378665	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs577546450	chr5:177378667-177378668	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs548885316	chr5:177378692-177378693	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs76131844	chr5:177378706-177378707	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs549559001	chr5:177378734-177378735	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
33	rs533791885	chr5:177378739-177378740	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
34	rs115225055	chr5:177378746-177378747	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
35	rs113023268	chr5:177378772-177378773	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs537918923	chr5:177378779-177378780	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs182949407	chr5:177378780-177378781	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs188649307	chr5:177378830-177378831	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs72815198	chr5:177378835-177378836	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs112114209	chr5:177378844-177378845	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs7705931	chr5:177378845-177378846	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs184183009	chr5:177378847-177378848	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs546119024	chr5:177378851-177378852	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs111691373	chr5:177378852-177378853	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs112126459	chr5:177378857-177378858	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs540666823	chr5:177378863-177378864	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs147677788	chr5:177378872-177378873	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
48	rs543058931	chr5:177378874-177378875	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
49	rs13361130	chr5:177378903-177378904	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs544311788	chr5:177378910-177378911	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:63 , 50 per page) page: 1 2

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
47	chr5:177378600-177379000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:177378600-177379200	Strong transcription	Fetal Stomach	stomach
49	chr5:177378600-177379200	Strong transcription	NHLF	lung
50	chr5:177378600-177385200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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