Variant report

Variant	esv3367549
Chromosome Location	chr5:112916403-112920101
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	CEBPB	chr5:112916537-112916820	K562	blood:	n/a	n/a
2	EBF1	chr5:112916573-112916710	GM12878	blood:	n/a	chr5:112916658-112916669
3	GATA3	chr5:112917822-112917974	SH-SY5Y	brain:	n/a	n/a
4	MAFK	chr5:112917780-112917866	HepG2	liver:	n/a	n/a
5	MAZ	chr5:112919788-112919988	HepG2	liver:	n/a	n/a
6	MYC	chr5:112918967-112919037	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr5:112916441-112916676	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:112917130..112919077-chr5:112922484..112924889,2	K562	blood:
2	chr5:112919623..112922323-chr5:112924895..112926616,2	MCF-7	breast:
3	chr5:112850115..112851621-chr5:112917619..112919519,2	K562	blood:

Variant related genes	Relation type
YTHDC2	TF binding region

Extended variants
information (count: 167 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555213656	chr5:112916520-112916521	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs570179604	chr5:112916568-112916569	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs537634592	chr5:112916586-112916587	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs17332053	chr5:112916596-112916597	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576525200	chr5:112916616-112916617	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs540678160	chr5:112916623-112916624	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs367784632	chr5:112916637-112916638	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs372511156	chr5:112916643-112916644	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs552558390	chr5:112916649-112916650	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs574339679	chr5:112916653-112916654	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs547879773	chr5:112916693-112916694	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs377062288	chr5:112916698-112916699	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs183350733	chr5:112916710-112916711	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs530659530	chr5:112916729-112916730	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs6883383	chr5:112916748-112916749	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs79680811	chr5:112916754-112916755	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs6864369	chr5:112916780-112916781	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs201074075	chr5:112916807-112916808	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs547880678	chr5:112916844-112916845	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34275333	chr5:112916849-112916850	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6883547	chr5:112916853-112916854	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs6883557	chr5:112916869-112916870	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs374789331	chr5:112916904-112916905	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548633105	chr5:112916916-112916917	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559511917	chr5:112916950-112916951	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570317566	chr5:112916959-112916960	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372841788	chr5:112916992-112916993	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553341152	chr5:112916999-112917000	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188043719	chr5:112917009-112917010	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552355593	chr5:112917012-112917013	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373084294	chr5:112917071-112917072	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144795809	chr5:112917125-112917126	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534426909	chr5:112917126-112917127	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200152483	chr5:112917135-112917136	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138502459	chr5:112917152-112917153	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143972697	chr5:112917153-112917154	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377394588	chr5:112917165-112917166	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199521744	chr5:112917166-112917167	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116542037	chr5:112917175-112917176	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369182425	chr5:112917189-112917190	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373487826	chr5:112917216-112917217	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377570528	chr5:112917221-112917222	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147338938	chr5:112917225-112917226	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374406127	chr5:112917269-112917270	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11748794	chr5:112917278-112917279	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs141634861	chr5:112917281-112917282	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371938030	chr5:112917287-112917288	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564290821	chr5:112917331-112917332	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113925773	chr5:112917332-112917333	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573049608	chr5:112917340-112917341	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:236 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112867400-112926000	Weak transcription	Small Intestine	intestine
2	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:112870200-112930800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:112876000-112918800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:112889400-112930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:112898200-112921200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:112899400-112929400	Weak transcription	HepG2	liver
8	chr5:112903000-112917000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:112904400-112917200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:112904600-112934800	Weak transcription	Psoas Muscle	Psoas
11	chr5:112907400-112932000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:112908800-112935200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:112910400-112917200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:112910600-112917000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:112910600-112917000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:112910600-112917000	Weak transcription	Brain Angular Gyrus	brain
17	chr5:112910600-112919800	Weak transcription	NHDF-Ad	bronchial
18	chr5:112910600-112920000	Weak transcription	Brain Anterior Caudate	brain
19	chr5:112910600-112927000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:112910600-112927600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:112910600-112927800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:112910600-112933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:112910600-112935200	Weak transcription	Spleen	Spleen
24	chr5:112910600-112935400	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:112910600-112936600	Weak transcription	Colonic Mucosa	Colon
26	chr5:112910600-112942000	Weak transcription	Brain Substantia Nigra	brain
27	chr5:112910800-112917000	Weak transcription	NHEK	skin
28	chr5:112910800-112919800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:112910800-112919800	Weak transcription	HMEC	breast
30	chr5:112910800-112920000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr5:112910800-112924400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:112910800-112927600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr5:112910800-112928400	Weak transcription	A549	lung
34	chr5:112910800-112928600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:112910800-112929200	Weak transcription	Right Ventricle	heart
36	chr5:112910800-112929400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:112910800-112930400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:112910800-112933600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr5:112910800-112933600	Weak transcription	Fetal Stomach	stomach
40	chr5:112910800-112934600	Weak transcription	Gastric	stomach
41	chr5:112910800-112935000	Weak transcription	Pancreas	Pancrea
42	chr5:112910800-112935200	Weak transcription	Esophagus	oesophagus
43	chr5:112910800-112937400	Weak transcription	Fetal Intestine Small	intestine
44	chr5:112910800-112938200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:112910800-112942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:112911000-112930000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr5:112911200-112917000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr5:112911200-112925400	Weak transcription	Brain Germinal Matrix	brain
49	chr5:112911200-112929000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:112913400-112917000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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