Variant report

Variant	esv3391996
Chromosome Location	chr5:112176339-112176806
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112070188..112073138-chr5:112174884..112177444,2	K562	blood:
2	chr5:112077462..112079150-chr5:112174470..112176548,2	K562	blood:
3	chr5:112176263..112181367-chr5:112181688..112184725,5	K562	blood:
4	chr5:112176097..112178949-chr5:112179046..112180658,2	MCF-7	breast:
5	chr5:112058057..112061004-chr5:112174922..112177064,2	K562	blood:
6	chr5:112173265..112176575-chr5:112195764..112198509,4	K562	blood:

Variant related genes	Relation type
ENSG00000153037	chromatin interactions
ENSG00000272869	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551084068	chr5:112176357-112176358	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs201142277	chr5:112176359-112176360	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs533667536	chr5:112176369-112176370	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs555019540	chr5:112176374-112176375	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373698193	chr5:112176406-112176407	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs573531013	chr5:112176427-112176428	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs148275069	chr5:112176431-112176432	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs141298709	chr5:112176438-112176439	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs201415309	chr5:112176461-112176462	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs368494571	chr5:112176469-112176470	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs149882057	chr5:112176504-112176505	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs199775075	chr5:112176516-112176517	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs2229997	chr5:112176541-112176542	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139552305	chr5:112176546-112176547	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs371067258	chr5:112176554-112176555	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs34506289	chr5:112176556-112176557	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs866006	chr5:112176559-112176560	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs199600387	chr5:112176565-112176566	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs562142144	chr5:112176570-112176571	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs529543591	chr5:112176581-112176582	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs199630012	chr5:112176593-112176594	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs551183536	chr5:112176599-112176600	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs563219702	chr5:112176610-112176611	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs533469002	chr5:112176614-112176615	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs201472075	chr5:112176654-112176655	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs74853403	chr5:112176665-112176666	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs76364845	chr5:112176667-112176668	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs566370229	chr5:112176673-112176674	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs367577259	chr5:112176677-112176678	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs200794097	chr5:112176683-112176684	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs376290290	chr5:112176691-112176692	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs533762549	chr5:112176713-112176714	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs149828124	chr5:112176721-112176722	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs459552	chr5:112176756-112176757	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs200742564	chr5:112176763-112176764	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs537695710	chr5:112176786-112176787	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs555944438	chr5:112176791-112176792	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs75236689	chr5:112176806-112176807	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	21518781	CNVD
Prostate cancer	22341455	CNVD
Lung cancer	20668451	CNVD
adenomatous polyposis	20649969	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	22014273	CNVD
Colorectal cancer	23471846	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sezary syndrome	18413736	CNVD
Cancer	17440070	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:112118200-112177000	Weak transcription	Colonic Mucosa	Colon
3	chr5:112132800-112179800	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:112140400-112183800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:112149400-112176400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:112150200-112177800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:112151400-112176400	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr5:112152000-112183800	Weak transcription	Gastric	stomach
9	chr5:112153200-112179400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:112153200-112179800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:112154400-112179400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:112154600-112177800	Strong transcription	Primary T cells from cord blood	blood
13	chr5:112155000-112183800	Weak transcription	Aorta	Aorta
14	chr5:112156200-112179000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:112163400-112183800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:112165400-112182400	Weak transcription	Right Ventricle	heart
17	chr5:112167800-112178000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:112168200-112176400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:112168400-112178400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:112168400-112179000	Strong transcription	Fetal Muscle Leg	muscle
21	chr5:112169000-112176600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr5:112169400-112176400	Strong transcription	Fetal Intestine Large	intestine
23	chr5:112170200-112177200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:112171400-112177400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:112171600-112179600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:112171800-112176600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:112172000-112176800	Strong transcription	Primary B cells from cord blood	blood
28	chr5:112172200-112176800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr5:112172200-112177400	Strong transcription	Fetal Thymus	thymus
30	chr5:112172400-112180000	Strong transcription	Fetal Brain Female	brain
31	chr5:112172600-112176600	Strong transcription	Adipose Nuclei	Adipose
32	chr5:112172600-112176800	Strong transcription	Primary hematopoietic stem cells	blood
33	chr5:112172600-112177800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:112172600-112179800	Strong transcription	HSMM	muscle
35	chr5:112172800-112176400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:112172800-112176600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:112172800-112178200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr5:112172800-112179000	Strong transcription	Brain Germinal Matrix	brain
39	chr5:112173000-112176400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr5:112173000-112176600	Strong transcription	Brain Substantia Nigra	brain
41	chr5:112173200-112176400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr5:112173200-112176400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:112173200-112176400	Strong transcription	Fetal Kidney	kidney
44	chr5:112173200-112176600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:112173200-112176600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr5:112173200-112176600	Strong transcription	Brain Anterior Caudate	brain
47	chr5:112173200-112176600	Strong transcription	Left Ventricle	heart
48	chr5:112173200-112176600	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr5:112173200-112177200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:112173200-112177200	Strong transcription	Muscle Satellite Cultured Cells	--

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