Variant report

Variant	esv3423308
Chromosome Location	chr3:50608207-50608501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:50608013-50608247	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr3:50607721-50609802	K562	blood:	n/a	n/a
3	POLR2A	chr3:50608383-50608893	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr3:50607942-50608680	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr3:50608130-50608802	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr3:50608404-50608414	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr3:50607811-50608603	HepG2	liver:	n/a	n/a
8	POLR2A	chr3:50607853-50609897	K562	blood:	n/a	n/a
9	POLR2A	chr3:50607826-50608538	GM12878	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50608421..50610660-chr3:51421926..51423993,2	K562	blood:
2	chr3:50608156..50612219-chr3:50612794..50616407,4	K562	blood:
3	chr3:50599337..50613537-chr3:50634306..50660129,118	MCF-7	breast:
4	chr3:50607017..50612379-chr3:51423330..51426962,5	MCF-7	breast:
5	chr3:50603678..50606671-chr3:50607262..50609999,2	K562	blood:
6	chr3:50601756..50613871-chr3:50647072..50654542,28	K562	blood:
7	chr3:50607067..50609858-chr3:50721017..50723839,2	K562	blood:
8	chr3:50603678..50606532-chr3:50606738..50608762,2	K562	blood:
9	chr3:50606526..50611586-chr3:50612274..50616724,6	MCF-7	breast:

No data

Variant related genes	Relation type
C3orf18	TF binding region
ENSG00000114738	chromatin interactions
ENSG00000114737	chromatin interactions
ENSG00000088543	chromatin interactions
ENSG00000114735	chromatin interactions
ENSG00000228337	chromatin interactions
ENSG00000145050	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182961929	chr3:50608317-50608318	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs79973208	chr3:50608324-50608325	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs187340301	chr3:50608394-50608395	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs192895909	chr3:50608420-50608421	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs550054597	chr3:50608426-50608427	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs571398975	chr3:50608427-50608428	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs150712279	chr3:50608433-50608434	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs2227293	chr3:50608448-50608449	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs565933842	chr3:50608455-50608456	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs536557807	chr3:50608463-50608464	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs377257310	chr3:50608470-50608471	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs2227292	chr3:50608480-50608481	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs139048714	chr3:50608481-50608482	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs376978330	chr3:50608485-50608486	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50604200-50608400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr3:50607400-50615600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:50607400-50628200	Weak transcription	Small Intestine	intestine
4	chr3:50607600-50608400	Enhancers	Primary B cells from peripheral blood	blood
5	chr3:50607600-50608600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:50607600-50608600	Enhancers	Pancreas	Pancrea
7	chr3:50607600-50609400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:50607600-50609400	Weak transcription	Esophagus	oesophagus
9	chr3:50607600-50609400	Weak transcription	Right Atrium	heart
10	chr3:50607600-50609600	Weak transcription	Spleen	Spleen
11	chr3:50607600-50609800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr3:50607600-50609800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:50607600-50609800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr3:50607600-50609800	Weak transcription	Left Ventricle	heart
15	chr3:50607600-50609800	Weak transcription	Lung	lung
16	chr3:50607600-50609800	Weak transcription	Stomach Mucosa	stomach
17	chr3:50607600-50610400	Enhancers	Primary T cells from cord blood	blood
18	chr3:50607600-50613000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:50607600-50614400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr3:50607600-50617600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:50607600-50628400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:50607800-50608400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr3:50607800-50608400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:50607800-50608400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:50607800-50608400	Enhancers	Brain Hippocampus Middle	brain
26	chr3:50607800-50608400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:50607800-50608400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr3:50607800-50608600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr3:50607800-50608600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:50607800-50608600	Enhancers	Placenta	Placenta
31	chr3:50607800-50608600	Enhancers	Gastric	stomach
32	chr3:50607800-50608800	Enhancers	Colon Smooth Muscle	Colon
33	chr3:50607800-50608800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr3:50607800-50609200	Weak transcription	Right Ventricle	heart
35	chr3:50607800-50609600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr3:50607800-50609800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr3:50607800-50609800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr3:50607800-50609800	Enhancers	Fetal Intestine Large	intestine
39	chr3:50607800-50609800	Enhancers	Fetal Thymus	thymus
40	chr3:50607800-50609800	Weak transcription	Psoas Muscle	Psoas
41	chr3:50607800-50609800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr3:50607800-50610600	Enhancers	Duodenum Mucosa	Duodenum
43	chr3:50607800-50611800	Enhancers	Liver	Liver
44	chr3:50607800-50612000	Weak transcription	Ovary	ovary
45	chr3:50607800-50614200	Weak transcription	Brain Anterior Caudate	brain
46	chr3:50607800-50614800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr3:50607800-50615200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:50607800-50615200	Weak transcription	Aorta	Aorta
49	chr3:50607800-50620000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr3:50607800-50628200	Weak transcription	HSMMtube	muscle

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