Variant report

Variant	esv3398486
Chromosome Location	chr3:50322998-50325696
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:50315087..50319481-chr3:50321802..50325239,4	K562	blood:
2	chr3:50309059..50311667-chr3:50323698..50326427,2	K562	blood:
3	chr3:50325622..50330493-chr3:50373581..50377874,6	K562	blood:
4	chr3:50311065..50313407-chr3:50322808..50325797,2	MCF-7	breast:
5	chr3:50316557..50321390-chr3:50321647..50325106,5	K562	blood:
6	chr3:50300416..50302829-chr3:50321767..50325227,3	MCF-7	breast:
7	chr3:50296030..50318456-chr3:50318822..50339499,66	MCF-7	breast:
8	chr3:50324564..50342616-chr3:50350801..50362499,49	MCF-7	breast:
9	chr3:50263447..50266941-chr3:50321659..50324366,3	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	IFRD2	hsa-miR-124-3p	chr3:50325381-50325400

Variant related genes	Relation type
ENSG00000068001	chromatin interactions
ENSG00000068028	chromatin interactions
ENSG00000179564	chromatin interactions
ENSG00000230454	chromatin interactions
ENSG00000012171	chromatin interactions
ENSG00000114353	chromatin interactions
ENSG00000232352	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587636512	chr3:50323020-50323021	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs368291859	chr3:50323039-50323040	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs140599924	chr3:50323074-50323075	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs374465926	chr3:50323089-50323090	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs141008137	chr3:50323097-50323098	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs35483992	chr3:50323130-50323131	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs587743692	chr3:50323153-50323154	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs144732663	chr3:50323168-50323169	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs12494414	chr3:50323172-50323173	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs34991164	chr3:50323223-50323224	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs587700393	chr3:50323230-50323231	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs587750860	chr3:50323279-50323280	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs587640145	chr3:50323283-50323284	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs587717194	chr3:50323285-50323286	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs77967087	chr3:50323292-50323293	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs587672850	chr3:50323332-50323333	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs141877203	chr3:50323376-50323377	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs150622018	chr3:50323377-50323378	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs188532091	chr3:50323395-50323396	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs369097894	chr3:50323399-50323400	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs138706222	chr3:50323431-50323432	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs368182459	chr3:50323449-50323450	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs193163851	chr3:50323451-50323452	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs114254713	chr3:50323462-50323463	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs35818104	chr3:50323517-50323518	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs372133381	chr3:50323575-50323576	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs149441646	chr3:50323593-50323594	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs587737060	chr3:50323627-50323628	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs587609662	chr3:50323657-50323658	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs587665207	chr3:50323709-50323710	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs147535614	chr3:50323728-50323729	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs113661859	chr3:50323736-50323737	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs145565863	chr3:50323833-50323834	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs587741182	chr3:50323858-50323859	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs182720039	chr3:50323869-50323870	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs370191615	chr3:50323886-50323887	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs147290285	chr3:50323888-50323889	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs374847344	chr3:50323889-50323890	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs540377348	chr3:50323926-50323927	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs377417053	chr3:50323936-50323937	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs144999743	chr3:50323941-50323942	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs928946	chr3:50323942-50323943	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs587682356	chr3:50323946-50323947	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs148042351	chr3:50323960-50323961	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs372954818	chr3:50323961-50323962	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs377507742	chr3:50323965-50323966	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs377156237	chr3:50324000-50324001	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs150581370	chr3:50324015-50324016	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs148644265	chr3:50324022-50324023	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs587657329	chr3:50324054-50324055	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

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
Cancer	20164919	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50310800-50325800	Weak transcription	HSMM	muscle
2	chr3:50311000-50323400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr3:50311200-50323400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:50311800-50324400	Weak transcription	HMEC	breast
5	chr3:50312200-50323200	Weak transcription	A549	lung
6	chr3:50312200-50323400	Weak transcription	Lung	lung
7	chr3:50312200-50324000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:50312200-50325600	Weak transcription	K562	blood
9	chr3:50313800-50323400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:50314000-50323800	Weak transcription	Liver	Liver
11	chr3:50314200-50323200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:50314200-50323800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:50314200-50324000	Weak transcription	Colonic Mucosa	Colon
14	chr3:50314200-50324000	Weak transcription	Pancreas	Pancrea
15	chr3:50314600-50323800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:50314600-50324000	Weak transcription	Adipose Nuclei	Adipose
17	chr3:50314600-50324600	Weak transcription	Hela-S3	cervix
18	chr3:50314600-50325000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:50314800-50324000	Weak transcription	Ovary	ovary
20	chr3:50315600-50324000	Weak transcription	Esophagus	oesophagus
21	chr3:50315800-50324000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr3:50316000-50323400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:50316200-50324600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr3:50316400-50323400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:50316400-50323800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:50316400-50324000	Weak transcription	Fetal Intestine Large	intestine
27	chr3:50316600-50323200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr3:50316600-50323400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:50316600-50323400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:50316600-50323800	Weak transcription	Aorta	Aorta
31	chr3:50316600-50323800	Weak transcription	NHLF	lung
32	chr3:50316600-50324200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:50316800-50323400	Weak transcription	Right Ventricle	heart
34	chr3:50317000-50323800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:50317000-50323800	Weak transcription	Gastric	stomach
36	chr3:50317000-50323800	Weak transcription	Spleen	Spleen
37	chr3:50317000-50324200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr3:50317000-50325200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr3:50317200-50323000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr3:50317200-50323400	Weak transcription	Brain Anterior Caudate	brain
41	chr3:50317200-50323600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:50317200-50323800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:50317200-50323800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr3:50317200-50324400	Weak transcription	HSMMtube	muscle
45	chr3:50317200-50325600	Weak transcription	Psoas Muscle	Psoas
46	chr3:50317400-50323200	Weak transcription	Left Ventricle	heart
47	chr3:50317400-50323400	Weak transcription	Fetal Muscle Leg	muscle
48	chr3:50317400-50323400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr3:50317400-50323400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr3:50317400-50323600	Weak transcription	Brain Hippocampus Middle	brain

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