Variant report

Variant	esv3463343
Chromosome Location	chr3:50123626-50124932
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	JUN	chr3:50123914-50124226	HepG2	liver:	n/a	chr3:50124067-50124076 chr3:50124063-50124076
2	JUND	chr3:50123955-50124207	HepG2	liver:	n/a	chr3:50124067-50124076
3	POLR2A	chr3:50124901-50124944	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:50122524..50125290-chr3:50125428..50127425,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RBM5-1	chr3:50124168-50124422	expReg_chr3_4587_+

Variant related genes	Relation type
RBM5	TF binding region
ENSG00000003756	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550117877	chr3:50123640-50123641	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs571540799	chr3:50123658-50123659	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148113437	chr3:50123678-50123679	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553888312	chr3:50123684-50123685	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573294534	chr3:50123707-50123708	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534295356	chr3:50123750-50123751	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184904102	chr3:50123762-50123763	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534010891	chr3:50123796-50123797	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573681682	chr3:50123831-50123832	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs544166177	chr3:50123857-50123858	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs74648070	chr3:50123862-50123863	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs189181771	chr3:50123891-50123892	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs35296820	chr3:50123979-50123980	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs577876844	chr3:50123988-50123989	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs76298543	chr3:50124046-50124047	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs560735221	chr3:50124109-50124110	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs143890598	chr3:50124148-50124149	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs537448039	chr3:50124151-50124152	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs551677060	chr3:50124186-50124187	Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs552521393	chr3:50124207-50124208	Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs531358684	chr3:50124209-50124210	Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs74928175	chr3:50124313-50124314	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs112598981	chr3:50124448-50124449	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112008798	chr3:50124467-50124468	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559791225	chr3:50124481-50124482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535653296	chr3:50124645-50124646	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532425669	chr3:50124665-50124666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547320370	chr3:50124749-50124750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181552756	chr3:50124750-50124751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186610792	chr3:50124802-50124803	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs555845701	chr3:50124837-50124838	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs13087454	chr3:50124849-50124850	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs7650241	chr3:50124923-50124924	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:100)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
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
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	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
Adrenocortical carcinoma	18281524	CNVD
Cancer	20164919	CNVD
Autism	20531469	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50106200-50125800	Weak transcription	Stomach Mucosa	stomach
2	chr3:50108800-50126000	Weak transcription	Fetal Heart	heart
3	chr3:50110200-50126000	Weak transcription	NHLF	lung
4	chr3:50110600-50125800	Weak transcription	Small Intestine	intestine
5	chr3:50111000-50125800	Weak transcription	Colonic Mucosa	Colon
6	chr3:50111000-50126000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:50111200-50126200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:50112200-50125800	Weak transcription	K562	blood
9	chr3:50113000-50125800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:50113000-50125800	Weak transcription	A549	lung
11	chr3:50113000-50126000	Weak transcription	NH-A	brain
12	chr3:50113200-50125600	Weak transcription	HepG2	liver
13	chr3:50113200-50125800	Weak transcription	Colon Smooth Muscle	Colon
14	chr3:50113200-50125800	Weak transcription	Gastric	stomach
15	chr3:50113200-50125800	Weak transcription	Pancreas	Pancrea
16	chr3:50113200-50125800	Weak transcription	Psoas Muscle	Psoas
17	chr3:50113200-50126200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:50113400-50125600	Weak transcription	Dnd41	blood
19	chr3:50113400-50125800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:50113400-50125800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:50113400-50125800	Weak transcription	Brain Substantia Nigra	brain
22	chr3:50113400-50125800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr3:50113400-50125800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:50113400-50125800	Weak transcription	Hela-S3	cervix
25	chr3:50113400-50125800	Weak transcription	HMEC	breast
26	chr3:50113400-50125800	Weak transcription	NHEK	skin
27	chr3:50113400-50126000	Weak transcription	Fetal Kidney	kidney
28	chr3:50113400-50126000	Weak transcription	Fetal Lung	lung
29	chr3:50113400-50126000	Weak transcription	HSMMtube	muscle
30	chr3:50114600-50126000	Weak transcription	Ovary	ovary
31	chr3:50114800-50125800	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:50115400-50125800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:50115400-50125800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:50115400-50125800	Weak transcription	Brain Anterior Caudate	brain
35	chr3:50115400-50125800	Weak transcription	Right Ventricle	heart
36	chr3:50115400-50125800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:50115400-50126000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:50115600-50125800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:50115600-50125800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:50115600-50126000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:50115600-50126000	Weak transcription	Fetal Stomach	stomach
42	chr3:50115600-50126000	Weak transcription	NHDF-Ad	bronchial
43	chr3:50115600-50126400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:50115800-50125800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:50115800-50125800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr3:50115800-50125800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr3:50115800-50125800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr3:50115800-50125800	Weak transcription	Left Ventricle	heart
49	chr3:50115800-50125800	Weak transcription	Lung	lung
50	chr3:50115800-50125800	Weak transcription	HSMM	muscle

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