Variant report

Variant	esv3355605
Chromosome Location	chr3:160235258-160239556
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	chr3:160238089-160238114	K562	blood:	n/a	n/a
2	CTCF	chr3:160236650-160236695	Kidney_OC	kidney:	n/a	n/a
3	CUX1	chr3:160237895-160237951	K562	blood:	n/a	n/a
4	FOS	chr3:160235224-160235418	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr3:160236911-160236929	NB4	blood:	n/a	n/a
6	POLR2A	chr3:160234775-160235470	K562	blood:	n/a	n/a
7	POLR2A	chr3:160239253-160239273	HepG2	liver:	n/a	n/a
8	POLR2A	chr3:160239086-160239383	GM12892	blood:	n/a	n/a
9	POLR2A	chr3:160238082-160238099	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr3:160236486-160236654	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:160220685..160224773-chr3:160234023..160237053,3	MCF-7	breast:
2	chr3:160223761..160225418-chr3:160235399..160237999,2	K562	blood:

Variant related genes	Relation type
SCARNA7	TF binding region

Extended variants
information (count: 160 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:160 , 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	rs193111745	chr3:160235259-160235260	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs557576859	chr3:160235278-160235279	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs78458020	chr3:160235294-160235295	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs375609347	chr3:160235318-160235319	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs540111964	chr3:160235343-160235344	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs553719619	chr3:160235357-160235358	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs570608678	chr3:160235359-160235360	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs182636541	chr3:160235421-160235422	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs540673470	chr3:160235434-160235435	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs560985934	chr3:160235518-160235519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538067013	chr3:160235529-160235530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187611947	chr3:160235541-160235542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73155922	chr3:160235557-160235558	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563119561	chr3:160235565-160235566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574562997	chr3:160235601-160235602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111342639	chr3:160235624-160235625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532195412	chr3:160235626-160235627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552016974	chr3:160235669-160235670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559230483	chr3:160235697-160235698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561949321	chr3:160235700-160235701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528436372	chr3:160235723-160235724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548285058	chr3:160235774-160235775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192814465	chr3:160235822-160235823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537131228	chr3:160235834-160235835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183960820	chr3:160235845-160235846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560350705	chr3:160235856-160235857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540048746	chr3:160235921-160235922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553658062	chr3:160235922-160235923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74932102	chr3:160235933-160235934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76154572	chr3:160235934-160235935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536185891	chr3:160235939-160235940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371811120	chr3:160235946-160235947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573350284	chr3:160235978-160235979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566362528	chr3:160236041-160236042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543173721	chr3:160236051-160236052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376060703	chr3:160236075-160236076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369000580	chr3:160236079-160236080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373205400	chr3:160236100-160236101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9758570	chr3:160236144-160236145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149412550	chr3:160236210-160236211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188690031	chr3:160236212-160236213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574401188	chr3:160236213-160236214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192004033	chr3:160236215-160236216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556651634	chr3:160236216-160236217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143751923	chr3:160236248-160236249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113712842	chr3:160236262-160236263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545594483	chr3:160236300-160236301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559543132	chr3:160236352-160236353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184416592	chr3:160236373-160236374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200597214	chr3:160236391-160236392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160204000-160238200	Weak transcription	Small Intestine	intestine
2	chr3:160215600-160254200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr3:160215800-160254000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:160215800-160254200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:160215800-160254200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:160216000-160254200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr3:160216200-160249200	Strong transcription	Liver	Liver
8	chr3:160216200-160254200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:160216400-160254400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:160216800-160253800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:160217200-160254000	Strong transcription	Dnd41	blood
12	chr3:160217400-160259600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:160218800-160244800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:160219800-160242200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:160219800-160263600	Weak transcription	Right Ventricle	heart
16	chr3:160220600-160246200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:160220600-160261200	Weak transcription	Pancreas	Pancrea
18	chr3:160221600-160249000	Strong transcription	HUVEC	blood vessel
19	chr3:160222200-160244600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:160223400-160243000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:160225600-160259800	Weak transcription	Stomach Mucosa	stomach
22	chr3:160225800-160236800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:160226000-160244000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:160227200-160238600	Weak transcription	Brain Angular Gyrus	brain
25	chr3:160227200-160238800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr3:160227400-160238600	Weak transcription	Brain Substantia Nigra	brain
27	chr3:160227800-160236200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr3:160229000-160253400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:160229200-160239000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr3:160229200-160247000	Strong transcription	Adipose Nuclei	Adipose
31	chr3:160229200-160252800	Strong transcription	Fetal Thymus	thymus
32	chr3:160229200-160253400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:160229200-160253400	Strong transcription	Osteobl	bone
34	chr3:160229200-160253600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:160229200-160254000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:160229200-160254000	Strong transcription	Placenta	Placenta
37	chr3:160229400-160237200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:160229600-160245200	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr3:160229600-160253400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:160229600-160253600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:160229800-160240200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr3:160229800-160253200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr3:160229800-160253400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:160229800-160253600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr3:160229800-160253600	Strong transcription	HSMM	muscle
46	chr3:160229800-160253800	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr3:160230000-160239800	Strong transcription	Primary hematopoietic stem cells	blood
48	chr3:160230000-160249800	Strong transcription	Fetal Intestine Large	intestine
49	chr3:160230000-160252800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr3:160230000-160253000	Strong transcription	Primary neutrophils fromperipheralblood	blood

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