Variant report

Variant	esv3445582
Chromosome Location	chr5:154174659-154176907
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	chr5:154171484..154173471-chr5:154176483..154179181,2	K562	blood:

Variant related genes	Relation type
ENSG00000155506	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529174574	chr5:154174673-154174674	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543050791	chr5:154174681-154174682	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370919023	chr5:154174699-154174700	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375877744	chr5:154174706-154174707	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371545659	chr5:154174707-154174708	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370983792	chr5:154174710-154174711	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182916290	chr5:154174727-154174728	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200946457	chr5:154174751-154174752	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375585440	chr5:154174754-154174755	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111543317	chr5:154174770-154174771	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367586312	chr5:154174777-154174778	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148041086	chr5:154174816-154174817	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188721520	chr5:154174894-154174895	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531161304	chr5:154174907-154174908	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117940856	chr5:154174950-154174951	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568006111	chr5:154174967-154174968	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192846854	chr5:154174976-154174977	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375734590	chr5:154175003-154175004	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528825088	chr5:154175024-154175025	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546574317	chr5:154175067-154175068	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565513266	chr5:154175180-154175181	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114250904	chr5:154175276-154175277	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557465505	chr5:154175284-154175285	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs255531	chr5:154175369-154175370	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs201501215	chr5:154175372-154175373	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371297123	chr5:154175384-154175385	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183277420	chr5:154175398-154175399	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556731392	chr5:154175449-154175450	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534913116	chr5:154175479-154175480	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571601448	chr5:154175511-154175512	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34274191	chr5:154175519-154175520	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs397999627	chr5:154175523-154175524	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187917247	chr5:154175547-154175548	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557452327	chr5:154175580-154175581	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536460837	chr5:154175583-154175584	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71590156	chr5:154175634-154175635	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554699118	chr5:154175643-154175644	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573891042	chr5:154175686-154175687	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143363974	chr5:154175724-154175725	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559716698	chr5:154175794-154175795	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192486530	chr5:154175826-154175827	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183728066	chr5:154175857-154175858	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370758755	chr5:154175904-154175905	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187554097	chr5:154175932-154175933	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565406124	chr5:154176132-154176133	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138954552	chr5:154176153-154176154	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551234783	chr5:154176177-154176178	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4958390	chr5:154176237-154176238	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373657256	chr5:154176238-154176239	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192947492	chr5:154176331-154176332	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Epilepsy	20502679	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154164200-154176400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:154164600-154188200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:154166000-154176000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:154167000-154203000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:154169200-154204200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:154169200-154204200	Strong transcription	Dnd41	blood
7	chr5:154169400-154175000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:154169400-154175000	Strong transcription	Spleen	Spleen
9	chr5:154169400-154176400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:154169400-154176400	Strong transcription	Colonic Mucosa	Colon
11	chr5:154169400-154176400	Strong transcription	Fetal Lung	lung
12	chr5:154169400-154176600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:154169400-154176600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:154169400-154177000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:154169400-154178800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr5:154169400-154179200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr5:154169400-154186200	Strong transcription	Fetal Stomach	stomach
18	chr5:154169400-154188400	Strong transcription	NHEK	skin
19	chr5:154169400-154190400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr5:154169400-154191000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr5:154169400-154191200	Strong transcription	Primary T cells from cord blood	blood
22	chr5:154169400-154191200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:154169400-154191400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:154169400-154192600	Strong transcription	Fetal Thymus	thymus
25	chr5:154169400-154194800	Strong transcription	K562	blood
26	chr5:154169400-154198200	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr5:154169400-154198400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:154169400-154198800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:154169400-154199000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr5:154169400-154199400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr5:154169400-154200000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:154169400-154200800	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr5:154169400-154201400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:154169400-154204000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:154169400-154204200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:154169400-154204200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr5:154169400-154205800	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr5:154169600-154175000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:154169600-154175000	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:154169600-154175000	Strong transcription	Esophagus	oesophagus
41	chr5:154169600-154175200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:154169600-154176600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr5:154169600-154178800	Weak transcription	Small Intestine	intestine
44	chr5:154169600-154179000	Strong transcription	HepG2	liver
45	chr5:154169600-154185800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr5:154169600-154185800	Strong transcription	Thymus	Thymus
47	chr5:154169600-154188400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr5:154169600-154188600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:154169600-154189200	Strong transcription	Primary hematopoietic stem cells	blood
50	chr5:154169600-154191200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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