Variant report

Variant	esv3429456
Chromosome Location	chr5:179020264-179021958
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr5:179020495-179020879	GM12878	blood:	n/a	n/a
2	BCL3	chr5:179020516-179020812	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:179021239-179021291	K562	blood:	n/a	n/a
4	POLR2A	chr5:179021067-179021181	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:179020546-179020807	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr5:179020538-179020938	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr5:179021270-179021548	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr5:179020198-179020314	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179020501..179022389-chr5:179025199..179026893,2	K562	blood:

Variant related genes	Relation type
RUFY1	TF binding region

Extended variants
information (count: 104 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559291072	chr5:179020266-179020267	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs138505349	chr5:179020272-179020273	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs552854445	chr5:179020394-179020395	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571180647	chr5:179020397-179020398	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35577881	chr5:179020432-179020433	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372156313	chr5:179020474-179020475	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375970287	chr5:179020482-179020483	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150673433	chr5:179020508-179020509	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs538405717	chr5:179020556-179020557	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs368906088	chr5:179020558-179020559	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs73809484	chr5:179020562-179020563	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs372933390	chr5:179020569-179020570	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs111312725	chr5:179020588-179020589	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs568591078	chr5:179020590-179020591	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs200339000	chr5:179020591-179020592	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs556184337	chr5:179020616-179020617	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs535944499	chr5:179020618-179020619	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs4701135	chr5:179020622-179020623	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs73809485	chr5:179020660-179020661	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539452218	chr5:179020666-179020667	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs558595228	chr5:179020694-179020695	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs575948195	chr5:179020695-179020696	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs73809486	chr5:179020720-179020721	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs67799282	chr5:179020728-179020729	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs113452868	chr5:179020729-179020730	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs112465862	chr5:179020738-179020739	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs28378614	chr5:179020749-179020750	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs532926280	chr5:179020768-179020769	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs62397280	chr5:179020827-179020828	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs200642918	chr5:179020837-179020838	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs114108887	chr5:179020873-179020874	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs563304925	chr5:179020896-179020897	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs535231099	chr5:179020931-179020932	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs529809109	chr5:179020933-179020934	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs568632902	chr5:179020972-179020973	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78811218	chr5:179020976-179020977	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200070522	chr5:179020977-179020978	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375748256	chr5:179021014-179021015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146261653	chr5:179021015-179021016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113216028	chr5:179021017-179021018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367550623	chr5:179021029-179021030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183393867	chr5:179021033-179021034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565859038	chr5:179021037-179021038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539413834	chr5:179021043-179021044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557708225	chr5:179021046-179021047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576073389	chr5:179021152-179021153	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs139392097	chr5:179021176-179021177	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs536938738	chr5:179021180-179021181	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs188908009	chr5:179021181-179021182	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs369501237	chr5:179021186-179021187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178987200-179040800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:178987600-179045600	Strong transcription	Fetal Intestine Small	intestine
3	chr5:178987800-179031000	Strong transcription	Fetal Muscle Leg	muscle
4	chr5:178987800-179045600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:178996200-179022600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:178996800-179034000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:178999800-179034800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:179000000-179034200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:179000400-179022800	Weak transcription	Fetal Heart	heart
10	chr5:179002200-179022800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:179002200-179045600	Strong transcription	Fetal Intestine Large	intestine
12	chr5:179005000-179032400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr5:179007400-179030200	Strong transcription	Primary B cells from peripheral blood	blood
14	chr5:179007400-179033800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:179007400-179034800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:179007400-179035200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:179007400-179035200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:179007400-179037400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:179007400-179040200	Strong transcription	Placenta	Placenta
20	chr5:179007400-179045000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:179007600-179034400	Strong transcription	Thymus	Thymus
22	chr5:179008200-179032800	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr5:179008800-179020600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:179010000-179034600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr5:179010800-179034000	Strong transcription	Fetal Thymus	thymus
26	chr5:179011000-179034200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:179011000-179045600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:179011200-179030400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:179011200-179034000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr5:179011200-179039000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:179011200-179043800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:179012000-179031600	Strong transcription	Stomach Smooth Muscle	stomach
33	chr5:179012200-179027800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:179012200-179029800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:179012200-179034600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:179012200-179035000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:179012400-179034000	Strong transcription	Fetal Brain Female	brain
38	chr5:179012400-179036400	Strong transcription	Lung	lung
39	chr5:179012600-179023000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:179012600-179032200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:179012600-179032200	Strong transcription	Liver	Liver
42	chr5:179012600-179037600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:179012600-179047000	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr5:179012800-179023400	Strong transcription	A549	lung
45	chr5:179012800-179031000	Strong transcription	Spleen	Spleen
46	chr5:179012800-179031600	Strong transcription	Adipose Nuclei	Adipose
47	chr5:179012800-179032400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:179012800-179034600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr5:179012800-179039000	Strong transcription	Left Ventricle	heart
50	chr5:179012800-179040000	Strong transcription	Duodenum Mucosa	Duodenum

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