Variant report

Variant	esv3470830
Chromosome Location	chr5:178334452-178339256
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr5:178336274-178336602	K562	blood:	n/a	n/a
2	CHD1	chr5:178337428-178337546	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr5:178336104-178336151	LNCaP	prostate:	n/a	n/a
4	CTCF	chr5:178334813-178334877	GM10266	blood:	n/a	n/a
5	KAP1	chr5:178336251-178336600	K562	blood:	n/a	n/a
6	MYC	chr5:178337258-178337388	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:178337987-178338032	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr5:178337710-178337820	MCF-7	breast:	n/a	n/a
9	SRF	chr5:178336009-178336236	GM12878	blood:	n/a	n/a
10	TRIM28	chr5:178336248-178336680	K562	blood:	n/a	n/a
11	ZNF143	chr5:178336434-178336559	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178339172-178339222	NB4	blood:	n/a
2	chr5:178339172-178339222	GM12891	blood:	n/a
3	chr5:178339172-178339222	PFSK-1	brain:	n/a
4	chr5:178339172-178339222	H1-hESC	embryonic stem cell:	embryo
5	chr5:178339172-178339222	NT2-D1	testis:	n/a
6	chr5:178339172-178339222	PANC-1	pancreas:	n/a
7	chr5:178339172-178339222	AoSMC	blood vessel:	n/a
8	chr5:178339172-178339222	MCF10A-Er-Src	breast:	n/a
9	chr5:178339172-178339222	SK-N-MC	brain:	n/a
10	chr5:178339172-178339222	HL-60	blood:	n/a
11	chr5:178339172-178339222	Hepatocyte	liver:	n/a
12	chr5:178339172-178339222	AG09309	skin:	n/a
13	chr5:178339172-178339222	U87	brain:	n/a
14	chr5:178339172-178339222	PrEC	prostate:	n/a
15	chr5:178339172-178339222	NHBE	bronchial:	n/a
16	chr5:178339172-178339222	SKMC	muscle:	n/a
17	chr5:178339172-178339222	ovcar-3	ovarian:	n/a
18	chr5:178339172-178339222	IMR90	lung:	fetal
19	chr5:178339172-178339222	HCM	heart:	n/a
20	chr5:178339172-178339222	SK-N-SH	brain:	n/a
21	chr5:178339172-178339222	ECC-1	luminal epithelium:	n/a
22	chr5:178339172-178339222	T-47D	breast:	n/a
23	chr5:178339172-178339222	HPAEpiC	pulmonary alveolar:	n/a
24	chr5:178339172-178339222	GM06990	blood:	n/a
25	chr5:178339172-178339222	HCPEpiC	choroid plexus:	n/a
26	chr5:178339172-178339222	GM12892	blood:	n/a
27	chr5:178339172-178339222	HCF	heart:	n/a
28	chr5:178339172-178339222	Caco-2	colon:	n/a
29	chr5:178339172-178339222	K562	blood:	n/a
30	chr5:178339172-178339222	AG04450	lung:	fetal
31	chr5:178339172-178339222	HMEC	breast:	n/a
32	chr5:178339172-178339222	RPTEC	kidney:	n/a
33	chr5:178339172-178339222	HEK293	kidney:	embryo
34	chr5:178339172-178339222	Hela-S3	cervix:	n/a
35	chr5:178339172-178339222	BE2_C	brain:	n/a
36	chr5:178339172-178339222	Jurkat	blood:	n/a
37	chr5:178339172-178339222	HNPCEpiC	eye:	n/a
38	chr5:178339172-178339222	A549	lung:	n/a
39	chr5:178339172-178339222	HCT-116	colon:	n/a
40	chr5:178339172-178339222	HRCEpiC	kidney:	n/a
41	chr5:178339172-178339222	GM19239	blood:	n/a
42	chr5:178339172-178339222	HepG2	liver:	n/a
43	chr5:178339172-178339222	GM12878	blood:	n/a
44	chr5:178339172-178339222	BJ	skin:	n/a
45	chr5:178339172-178339222	AG10803	skin:	n/a
46	chr5:178339172-178339222	SK-N-SH_RA	brain:	n/a
47	chr5:178339172-178339222	HAEpiC	amniotic membrane:	n/a
48	chr5:178339172-178339222	MCF-7	breast:	n/a
49	chr5:178339172-178339222	HUVEC	blood vessel:	n/a
50	chr5:178339172-178339222	AG09319	gingival:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178322017..178324460-chr5:178337015..178339677,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZFP2	TF binding region
ENSG00000213328	TF binding region
ZFP2	CpG island
ENSG00000213328	CpG island
ENSG00000198939	chromatin interactions

Extended variants
information (count: 245 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556299480	chr5:178334457-178334458	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6866021	chr5:178334467-178334468	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs6880072	chr5:178334480-178334481	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186160019	chr5:178334581-178334582	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572683775	chr5:178334608-178334609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200637481	chr5:178334620-178334621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201684084	chr5:178334622-178334623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372242731	chr5:178334623-178334624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146361450	chr5:178334630-178334631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138899081	chr5:178334632-178334633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558363882	chr5:178334635-178334636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10687726	chr5:178334642-178334643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10039203	chr5:178334673-178334674	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs191885665	chr5:178334681-178334682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117440763	chr5:178334691-178334692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183396661	chr5:178334705-178334706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187344039	chr5:178334719-178334720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529105496	chr5:178334729-178334730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10035741	chr5:178334743-178334744	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs192298479	chr5:178334770-178334771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533105395	chr5:178334779-178334780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550916870	chr5:178334805-178334806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74508332	chr5:178334827-178334828	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs569321746	chr5:178334856-178334857	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs574899138	chr5:178335032-178335033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536715094	chr5:178335076-178335077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548691739	chr5:178335112-178335113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114132704	chr5:178335150-178335151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561066584	chr5:178335157-178335158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182905021	chr5:178335166-178335167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554111826	chr5:178335167-178335168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10037614	chr5:178335173-178335174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs540140005	chr5:178335175-178335176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558141750	chr5:178335214-178335215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576518246	chr5:178335225-178335226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543905234	chr5:178335231-178335232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562198708	chr5:178335232-178335233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574092845	chr5:178335251-178335252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57153194	chr5:178335257-178335258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559287548	chr5:178335260-178335261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143362515	chr5:178335262-178335263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187824618	chr5:178335266-178335267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560372276	chr5:178335276-178335277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192944564	chr5:178335278-178335279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532311225	chr5:178335305-178335306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567346174	chr5:178335348-178335349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111659060	chr5:178335397-178335398	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs562922891	chr5:178335405-178335406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199922958	chr5:178335461-178335462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566284792	chr5:178335463-178335464	Weak transcription	n/a	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178323600-178335400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:178323800-178336200	Weak transcription	Right Ventricle	heart
3	chr5:178323800-178336400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:178332400-178334600	ZNF genes & repeats	Liver	Liver
5	chr5:178333000-178335800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:178333400-178335600	Weak transcription	Brain Hippocampus Middle	brain
7	chr5:178333400-178335600	Weak transcription	Brain Substantia Nigra	brain
8	chr5:178333400-178335600	Weak transcription	Left Ventricle	heart
9	chr5:178333400-178335800	Weak transcription	Gastric	stomach
10	chr5:178333400-178336000	Weak transcription	Brain Angular Gyrus	brain
11	chr5:178333400-178336200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:178333400-178336200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:178333400-178336200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:178334200-178334800	Strong transcription	Ovary	ovary
15	chr5:178334800-178336000	Weak transcription	Ovary	ovary
16	chr5:178335600-178340600	ZNF genes & repeats	Brain Substantia Nigra	brain
17	chr5:178335600-178349000	ZNF genes & repeats	Liver	Liver
18	chr5:178335800-178337800	ZNF genes & repeats	Gastric	stomach
19	chr5:178335800-178337800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
20	chr5:178335800-178342200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr5:178335800-178367000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chr5:178336000-178337800	ZNF genes & repeats	Brain Hippocampus Middle	brain
23	chr5:178336000-178338000	ZNF genes & repeats	Ovary	ovary
24	chr5:178336000-178340400	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr5:178336200-178337800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:178336200-178337800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr5:178336200-178337800	ZNF genes & repeats	Fetal Lung	lung
28	chr5:178336200-178338000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
29	chr5:178336200-178338000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:178336400-178337600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
31	chr5:178336400-178337800	ZNF genes & repeats	Aorta	Aorta
32	chr5:178336400-178337800	ZNF genes & repeats	Spleen	Spleen
33	chr5:178336600-178337800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr5:178336800-178337800	ZNF genes & repeats	Fetal Stomach	stomach
35	chr5:178336800-178338000	ZNF genes & repeats	Esophagus	oesophagus
36	chr5:178336800-178340000	Weak transcription	Fetal Kidney	kidney
37	chr5:178337000-178337200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
38	chr5:178337000-178338000	ZNF genes & repeats	Brain Germinal Matrix	brain
39	chr5:178337000-178340600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:178337200-178337400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:178337400-178337800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:178337400-178337800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
43	chr5:178339000-178340400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
44	chr5:178339000-178340600	ZNF genes & repeats	Fetal Brain Female	brain
45	chr5:178339000-178340600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
46	chr5:178339200-178339600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
47	chr5:178339200-178340400	ZNF genes & repeats	Aorta	Aorta
48	chr5:178339200-178340400	ZNF genes & repeats	Left Ventricle	heart
49	chr5:178339200-178340400	ZNF genes & repeats	Ovary	ovary
50	chr5:178339200-178340600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain

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