Variant report

Variant	esv3425423
Chromosome Location	chr5:177643496-177648394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177491831..177493394-chr5:177642121..177643667,2	K562	blood:

Extended variants
information (count: 232 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:232 , 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	rs535955343	chr5:177643498-177643499	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563203447	chr5:177643510-177643511	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553836694	chr5:177643527-177643528	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77245755	chr5:177643542-177643543	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374893254	chr5:177643581-177643582	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192975108	chr5:177643586-177643587	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558005130	chr5:177643606-177643607	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114010597	chr5:177643620-177643621	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141444867	chr5:177643690-177643691	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561953803	chr5:177643691-177643692	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573606355	chr5:177643695-177643696	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541141956	chr5:177643709-177643710	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576635290	chr5:177643774-177643775	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143621757	chr5:177643807-177643808	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2961678	chr5:177643813-177643814	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs184045830	chr5:177643886-177643887	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186559336	chr5:177643929-177643930	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551424623	chr5:177643965-177643966	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191289904	chr5:177643999-177644000	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562093842	chr5:177644002-177644003	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs55982276	chr5:177644128-177644129	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530868955	chr5:177644182-177644183	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549160567	chr5:177644186-177644187	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369847311	chr5:177644227-177644228	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs58049202	chr5:177644243-177644244	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7718055	chr5:177644252-177644253	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560470416	chr5:177644266-177644267	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535552555	chr5:177644279-177644280	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559798168	chr5:177644295-177644296	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547888402	chr5:177644326-177644327	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75647366	chr5:177644329-177644330	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539815160	chr5:177644348-177644349	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557769597	chr5:177644382-177644383	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113158959	chr5:177644396-177644397	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537350197	chr5:177644410-177644411	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375559975	chr5:177644429-177644430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555511971	chr5:177644446-177644447	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376889283	chr5:177644448-177644449	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113521273	chr5:177644465-177644466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2961679	chr5:177644482-177644483	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs61407689	chr5:177644507-177644508	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs28793125	chr5:177644540-177644541	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75862871	chr5:177644547-177644548	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372991125	chr5:177644552-177644553	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76707341	chr5:177644561-177644562	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530781645	chr5:177644585-177644586	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542968101	chr5:177644598-177644599	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560888825	chr5:177644610-177644611	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528265547	chr5:177644631-177644632	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2913747	chr5:177644634-177644635	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177633600-177644000	Genic enhancers	Fetal Intestine Large	intestine
2	chr5:177633800-177643600	Strong transcription	Aorta	Aorta
3	chr5:177633800-177644000	Strong transcription	Brain Inferior Temporal Lobe	brain
4	chr5:177634000-177643800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:177634000-177644000	Strong transcription	Rectal Smooth Muscle	rectum
6	chr5:177634000-177650800	Strong transcription	Placenta	Placenta
7	chr5:177634200-177644000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:177634400-177643600	Strong transcription	Brain Angular Gyrus	brain
9	chr5:177634400-177643800	Strong transcription	Colon Smooth Muscle	Colon
10	chr5:177634400-177654200	Strong transcription	Fetal Stomach	stomach
11	chr5:177634600-177643600	Strong transcription	Brain Cingulate Gyrus	brain
12	chr5:177634600-177644200	Strong transcription	Stomach Smooth Muscle	stomach
13	chr5:177634600-177644400	Strong transcription	Fetal Lung	lung
14	chr5:177634600-177646000	Strong transcription	Thymus	Thymus
15	chr5:177634800-177645800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:177635000-177643800	Strong transcription	Fetal Kidney	kidney
17	chr5:177635000-177644000	Strong transcription	Brain Anterior Caudate	brain
18	chr5:177635000-177647000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:177635000-177650200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:177635000-177650400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:177635000-177650400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:177635000-177650400	Strong transcription	Adipose Nuclei	Adipose
23	chr5:177635200-177643800	Strong transcription	Brain Substantia Nigra	brain
24	chr5:177635200-177643800	Strong transcription	NHEK	skin
25	chr5:177635200-177644000	Strong transcription	Esophagus	oesophagus
26	chr5:177635200-177644000	Strong transcription	Left Ventricle	heart
27	chr5:177635200-177644000	Strong transcription	Ovary	ovary
28	chr5:177635200-177644200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:177635200-177644200	Strong transcription	Fetal Thymus	thymus
30	chr5:177635200-177644200	Strong transcription	NHDF-Ad	bronchial
31	chr5:177635200-177644400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:177635200-177644400	Strong transcription	HUVEC	blood vessel
33	chr5:177635200-177644800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:177635200-177645400	Strong transcription	Fetal Brain Female	brain
35	chr5:177635200-177646000	Strong transcription	NH-A	brain
36	chr5:177635400-177643800	Strong transcription	HMEC	breast
37	chr5:177635400-177644000	Strong transcription	NHLF	lung
38	chr5:177635400-177644200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:177635400-177644600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:177635400-177644800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr5:177635400-177646200	Strong transcription	Osteobl	bone
42	chr5:177635400-177646400	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr5:177635400-177649200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:177635400-177651000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:177635600-177644400	Strong transcription	HSMM	muscle
46	chr5:177635800-177643800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:177635800-177644000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:177635800-177657000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr5:177636000-177648000	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr5:177636000-177654000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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