Variant report

Variant	nsv933568
Chromosome Location	chr3:48620655-48623089
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	POLR2A	chr3:48622110-48622292	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr3:48621256-48621759	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr3:48620612-48621058	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr3:48622251-48622340	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr3:48620729-48621672	A549	lung:	n/a	n/a
6	POLR2A	chr3:48622467-48622849	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr3:48623017-48623300	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr3:48622640-48624741	A549	lung:	n/a	n/a
9	POLR2A	chr3:48622028-48622423	A549	lung:	n/a	n/a
10	POLR2A	chr3:48621003-48621284	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr3:48621779-48621932	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48620158..48621979-chr3:48670195..48672558,2	K562	blood:
2	chr3:48595024..48597915-chr3:48619806..48622273,2	K562	blood:

Variant related genes	Relation type
MIR711	TF binding region
COL7A1	TF binding region
ENSG00000225697	chromatin interactions
ENSG00000114268	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs373351471	chr3:48620663-48620664	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs113378081	chr3:48620716-48620717	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs542385825	chr3:48620742-48620743	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs560927859	chr3:48620763-48620764	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs374723425	chr3:48620792-48620793	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs201800375	chr3:48620797-48620798	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs184093617	chr3:48620814-48620815	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs372158569	chr3:48620837-48620838	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs376555042	chr3:48620877-48620878	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs369494598	chr3:48620939-48620940	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs372346203	chr3:48620941-48620942	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs376917010	chr3:48620944-48620945	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs369157723	chr3:48620947-48620948	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs373267685	chr3:48620948-48620949	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs376086581	chr3:48620965-48620966	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs370329446	chr3:48620973-48620974	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs556363551	chr3:48620996-48620997	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs373742757	chr3:48620998-48620999	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs79378857	chr3:48621017-48621018	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs139141593	chr3:48621036-48621037	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs367620031	chr3:48621065-48621066	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs188592093	chr3:48621066-48621067	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs369087760	chr3:48621073-48621074	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs201049054	chr3:48621078-48621079	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs527807192	chr3:48621079-48621080	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs200684689	chr3:48621102-48621103	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs552129703	chr3:48621103-48621104	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs377071800	chr3:48621112-48621113	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs567806128	chr3:48621171-48621172	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs539692401	chr3:48621174-48621175	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs148625586	chr3:48621180-48621181	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs369070144	chr3:48621201-48621202	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs2854396	chr3:48621221-48621222	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs142066167	chr3:48621241-48621242	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs538212483	chr3:48621297-48621298	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs199792365	chr3:48621334-48621335	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs369814181	chr3:48621347-48621348	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs571762097	chr3:48621348-48621349	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs373161985	chr3:48621395-48621396	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs369279598	chr3:48621401-48621402	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs57591992	chr3:48621428-48621429	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs542322297	chr3:48621432-48621433	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs376116966	chr3:48621437-48621438	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs151133239	chr3:48621443-48621444	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs576204059	chr3:48621469-48621470	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs143126677	chr3:48621470-48621471	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs146659822	chr3:48621482-48621483	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs370515794	chr3:48621510-48621511	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs373923805	chr3:48621511-48621512	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs377154432	chr3:48621513-48621514	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Acute lymphoblastic leukemia	21339820	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	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48596600-48626000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:48598600-48624000	Weak transcription	Aorta	Aorta
3	chr3:48599000-48623600	Weak transcription	Ovary	ovary
4	chr3:48599000-48632000	Weak transcription	Left Ventricle	heart
5	chr3:48599200-48630600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr3:48600600-48631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:48601000-48631000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:48601600-48631000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:48601800-48633000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:48602000-48629400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:48602000-48633200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:48602200-48629400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:48602400-48621400	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:48603600-48630000	Strong transcription	Fetal Stomach	stomach
15	chr3:48603800-48628800	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr3:48603800-48630600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:48603800-48631800	Weak transcription	Gastric	stomach
18	chr3:48604000-48623800	Weak transcription	Fetal Muscle Leg	muscle
19	chr3:48604000-48629400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:48604000-48631600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:48604000-48632000	Weak transcription	HSMMtube	muscle
22	chr3:48604200-48621600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:48604400-48630000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:48604400-48631600	Weak transcription	HSMM	muscle
25	chr3:48604600-48630800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:48605000-48627400	Strong transcription	NHEK	skin
27	chr3:48606200-48627600	Strong transcription	HMEC	breast
28	chr3:48606800-48627000	Strong transcription	A549	lung
29	chr3:48607400-48623800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:48607600-48622200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:48610200-48631200	Strong transcription	Fetal Intestine Small	intestine
32	chr3:48610800-48626000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr3:48611800-48624000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:48613000-48621200	Strong transcription	Right Ventricle	heart
35	chr3:48613400-48621600	Strong transcription	Stomach Smooth Muscle	stomach
36	chr3:48613800-48622200	Weak transcription	Fetal Brain Female	brain
37	chr3:48615200-48621400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr3:48615200-48627200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:48615200-48629600	Weak transcription	Brain Substantia Nigra	brain
40	chr3:48615200-48632000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:48615200-48632200	Weak transcription	Brain Anterior Caudate	brain
42	chr3:48615400-48623800	Weak transcription	Brain Angular Gyrus	brain
43	chr3:48615400-48625600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:48615800-48623400	Weak transcription	Spleen	Spleen
45	chr3:48616000-48623200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:48616200-48621000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr3:48616600-48624200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr3:48616800-48624200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:48617000-48631600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:48617200-48630200	Weak transcription	NHDF-Ad	bronchial

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