Variant report

Variant	esv2571713
Chromosome Location	chr3:138474293-138475879
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138472916..138475291-chr3:138490859..138492520,2	K562	blood:
2	chr3:138472857..138474633-chr3:138553666..138555234,2	MCF-7	breast:
3	chr3:138475304..138477689-chr3:138484977..138487664,2	K562	blood:
4	chr3:138439627..138441502-chr3:138475761..138477385,2	K562	blood:

Variant related genes	Relation type
ENSG00000051382	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79128280	chr3:138474304-138474305	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs548186640	chr3:138474305-138474306	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116715294	chr3:138474310-138474311	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530811577	chr3:138474335-138474336	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185261191	chr3:138474348-138474349	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570907487	chr3:138474390-138474391	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs114503752	chr3:138474414-138474415	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528443424	chr3:138474446-138474447	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs72990552	chr3:138474447-138474448	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566657432	chr3:138474452-138474453	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190065241	chr3:138474469-138474470	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs555689254	chr3:138474519-138474520	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575355518	chr3:138474525-138474526	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542332806	chr3:138474536-138474537	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562020350	chr3:138474551-138474552	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs567365442	chr3:138474573-138474574	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557586198	chr3:138474590-138474591	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs35023781	chr3:138474596-138474597	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201174029	chr3:138474641-138474642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200365740	chr3:138474657-138474658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201791982	chr3:138474687-138474688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3729696	chr3:138474712-138474713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3729695	chr3:138474759-138474760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370600009	chr3:138474784-138474785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111442356	chr3:138474832-138474833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs63586560	chr3:138474833-138474834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34625977	chr3:138474834-138474835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10633896	chr3:138474837-138474838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113882768	chr3:138474838-138474839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182553071	chr3:138474888-138474889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3729697	chr3:138474904-138474905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377494169	chr3:138474911-138474912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530847036	chr3:138474915-138474916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144739843	chr3:138474921-138474922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146676609	chr3:138474955-138474956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564445279	chr3:138474971-138474972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533418848	chr3:138474985-138474986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs476800	chr3:138474986-138474987	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs566711602	chr3:138475047-138475048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529094157	chr3:138475115-138475116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139072977	chr3:138475145-138475146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569141328	chr3:138475157-138475158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537863990	chr3:138475164-138475165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557691268	chr3:138475210-138475211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78319619	chr3:138475233-138475234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550786721	chr3:138475238-138475239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571267610	chr3:138475262-138475263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79400945	chr3:138475267-138475268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533929333	chr3:138475273-138475274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553584046	chr3:138475275-138475276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	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
Developmental delay	21147756	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138369000-138493000	Weak transcription	Fetal Lung	lung
2	chr3:138393800-138515000	Weak transcription	Aorta	Aorta
3	chr3:138395800-138480200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr3:138396200-138486400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:138396200-138487000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr3:138408000-138479800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:138408400-138499200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr3:138413800-138487600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:138416800-138486600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr3:138417800-138486600	Weak transcription	Hela-S3	cervix
11	chr3:138419000-138487000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:138419200-138486200	Weak transcription	Fetal Muscle Leg	muscle
13	chr3:138421800-138479800	Weak transcription	Small Intestine	intestine
14	chr3:138423400-138487000	Weak transcription	Colonic Mucosa	Colon
15	chr3:138438600-138486400	Weak transcription	Esophagus	oesophagus
16	chr3:138443000-138483200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:138443800-138474400	Weak transcription	Brain Angular Gyrus	brain
18	chr3:138445000-138478000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:138446000-138486200	Weak transcription	GM12878-XiMat	blood
20	chr3:138446200-138483600	Weak transcription	NH-A	brain
21	chr3:138454400-138486400	Weak transcription	HSMM	muscle
22	chr3:138455200-138486400	Weak transcription	Spleen	Spleen
23	chr3:138459800-138482800	Weak transcription	Lung	lung
24	chr3:138459800-138483000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:138460200-138486400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr3:138460200-138486400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr3:138460400-138483400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:138460400-138486200	Weak transcription	Brain Hippocampus Middle	brain
29	chr3:138460400-138486200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:138460400-138486600	Weak transcription	Ovary	ovary
31	chr3:138460400-138486800	Weak transcription	Brain Anterior Caudate	brain
32	chr3:138460400-138493200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr3:138460600-138483200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:138460600-138486200	Weak transcription	Adipose Nuclei	Adipose
35	chr3:138460600-138486200	Weak transcription	Thymus	Thymus
36	chr3:138460600-138486400	Weak transcription	Gastric	stomach
37	chr3:138460600-138486600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr3:138460600-138487000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:138460600-138487200	Weak transcription	Left Ventricle	heart
40	chr3:138461000-138479000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr3:138461200-138480000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:138461200-138483400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:138462800-138482400	Weak transcription	Osteobl	bone
44	chr3:138462800-138486200	Weak transcription	Fetal Stomach	stomach
45	chr3:138463800-138483400	Weak transcription	NHDF-Ad	bronchial
46	chr3:138464400-138480000	Weak transcription	Primary T cells from cord blood	blood
47	chr3:138466000-138474800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr3:138466600-138487000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr3:138467600-138492800	Weak transcription	Fetal Heart	heart
50	chr3:138467800-138475400	Strong transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links