Variant report

Variant	nsv822282
Chromosome Location	chr3:146237047-146238935
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	chr3:146237721-146238249	HCT-116	colon:	n/a	chr3:146238077-146238086 chr3:146238075-146238086
2	CEBPB	chr3:146237985-146238112	HepG2	liver:	n/a	chr3:146238077-146238086 chr3:146238075-146238086
3	FOS	chr3:146237745-146237781	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA1	chr3:146237207-146238252	PBDE	blood:	n/a	chr3:146237214-146237221 chr3:146237284-146237300 chr3:146237281-146237302
5	POLR2A	chr3:146238221-146242021	K562	blood:	n/a	n/a
6	POLR2A	chr3:146237095-146237299	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr3:146233779-146237765	K562	blood:	n/a	n/a
8	POLR2A	chr3:146237833-146237870	ProgFib	skin:	n/a	n/a
9	POLR2A	chr3:146237503-146237535	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr3:146236415-146237164	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr3:146237587-146237634	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:146228241..146231154-chr3:146236988..146238533,2	K562	blood:
2	chr3:146236451..146238019-chr3:146239064..146241135,2	K562	blood:
3	chr3:146231662..146235796-chr3:146237359..146239249,3	K562	blood:
4	chr3:146235526..146237104-chr3:146242784..146244517,2	K562	blood:

Variant related genes	Relation type
PLSCR1	TF binding region
ENSG00000188313	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528282162	chr3:146237065-146237066	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs370512803	chr3:146237099-146237100	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs546427880	chr3:146237153-146237154	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs571298997	chr3:146237206-146237207	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs190641609	chr3:146237207-146237208	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs58807541	chr3:146237233-146237234	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568484426	chr3:146237258-146237259	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs183400053	chr3:146237264-146237265	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs555985030	chr3:146237280-146237281	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs574191980	chr3:146237300-146237301	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs72986629	chr3:146237323-146237324	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs71633968	chr3:146237370-146237371	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs431840	chr3:146237371-146237372	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs114746458	chr3:146237402-146237403	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs55775421	chr3:146237404-146237405	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs187698775	chr3:146237534-146237535	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs16858438	chr3:146237592-146237593	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192490180	chr3:146237738-146237739	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs368434346	chr3:146237742-146237743	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs550994919	chr3:146237793-146237794	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs528303607	chr3:146237800-146237801	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs80204759	chr3:146237841-146237842	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs546758615	chr3:146237890-146237891	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs184669185	chr3:146237994-146237995	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs186910	chr3:146238028-146238029	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs173150	chr3:146238043-146238044	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568520674	chr3:146238124-146238125	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs529631259	chr3:146238147-146238148	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs146677461	chr3:146238148-146238149	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs549457469	chr3:146238171-146238172	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs71302408	chr3:146238176-146238177	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554748510	chr3:146238184-146238185	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs188293858	chr3:146238192-146238193	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs556392482	chr3:146238196-146238197	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs11921551	chr3:146238210-146238211	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73865775	chr3:146238211-146238212	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs184618678	chr3:146238240-146238241	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs575758399	chr3:146238247-146238248	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs375163099	chr3:146238264-146238265	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs542989359	chr3:146238275-146238276	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs554602571	chr3:146238301-146238302	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs140401080	chr3:146238309-146238310	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs562804026	chr3:146238313-146238314	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs369522583	chr3:146238334-146238335	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs6765640	chr3:146238339-146238340	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs565092169	chr3:146238384-146238385	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs62272753	chr3:146238416-146238417	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs543943921	chr3:146238424-146238425	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs149396867	chr3:146238437-146238438	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs548336897	chr3:146238501-146238502	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Bipolar disorder	18458673	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
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146222800-146237200	Weak transcription	GM12878-XiMat	blood
2	chr3:146224200-146246400	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:146224600-146241000	Weak transcription	Fetal Kidney	kidney
4	chr3:146224800-146254400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr3:146225000-146240800	Weak transcription	Small Intestine	intestine
6	chr3:146225400-146240600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:146225400-146255000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:146225400-146256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:146225400-146257000	Weak transcription	Right Ventricle	heart
10	chr3:146225400-146260800	Weak transcription	NH-A	brain
11	chr3:146225600-146240400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:146225600-146252200	Weak transcription	Psoas Muscle	Psoas
13	chr3:146225600-146258600	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:146226000-146241400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:146226200-146240800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:146226200-146245800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:146228000-146248200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr3:146229000-146253200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr3:146229000-146259600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:146229400-146252200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr3:146229800-146257000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:146230400-146248600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:146230600-146241400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr3:146231000-146240000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr3:146231400-146242800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:146231600-146238800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:146231600-146239400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:146231600-146250800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:146231600-146254400	Weak transcription	Brain Anterior Caudate	brain
30	chr3:146231600-146254400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:146231600-146257200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr3:146231600-146258600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr3:146231600-146259000	Weak transcription	Brain Angular Gyrus	brain
34	chr3:146231600-146260800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr3:146231800-146240800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr3:146231800-146242600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:146231800-146242800	Weak transcription	Osteobl	bone
38	chr3:146231800-146254000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr3:146231800-146254400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr3:146232000-146239000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr3:146232000-146239600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr3:146232000-146257400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr3:146232000-146259600	Weak transcription	NHDF-Ad	bronchial
44	chr3:146232600-146240000	Strong transcription	Hela-S3	cervix
45	chr3:146232600-146248400	Weak transcription	HMEC	breast
46	chr3:146232800-146240200	Weak transcription	Ovary	ovary
47	chr3:146232800-146241000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr3:146232800-146248600	Weak transcription	Aorta	Aorta
49	chr3:146232800-146250200	Weak transcription	Pancreas	Pancrea
50	chr3:146232800-146254400	Weak transcription	Rectal Smooth Muscle	rectum

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