Variant report

Variant	esv3463339
Chromosome Location	chr3:49986019-49993235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49977495..49980410-chr3:49985163..49987874,2	K562	blood:
2	chr3:49977058..49978995-chr3:49986374..49988156,2	K562	blood:

Variant related genes	Relation type
ENSG00000004534	chromatin interactions

Extended variants
information (count: 243 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370653181	chr3:49986028-49986029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373134652	chr3:49986053-49986054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538022309	chr3:49986084-49986085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556247578	chr3:49986094-49986095	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs72942333	chr3:49986118-49986119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs78015444	chr3:49986131-49986132	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553841963	chr3:49986176-49986177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370906812	chr3:49986217-49986218	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs542945703	chr3:49986218-49986219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190467102	chr3:49986236-49986237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs77831366	chr3:49986247-49986248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112003346	chr3:49986267-49986268	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543223155	chr3:49986339-49986340	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs565077006	chr3:49986341-49986342	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376685067	chr3:49986433-49986434	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs533306285	chr3:49986460-49986461	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551850259	chr3:49986496-49986497	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182810129	chr3:49986553-49986554	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs373687911	chr3:49986554-49986555	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561445398	chr3:49986594-49986595	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369829452	chr3:49986608-49986609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149466829	chr3:49986721-49986722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200945037	chr3:49986728-49986729	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs144600011	chr3:49986729-49986730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs367793197	chr3:49986776-49986777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538510742	chr3:49986789-49986790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374047537	chr3:49986837-49986838	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs567153517	chr3:49986848-49986849	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs187136875	chr3:49986867-49986868	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368329711	chr3:49986882-49986883	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs138783992	chr3:49986910-49986911	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538399425	chr3:49986929-49986930	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs553854232	chr3:49986950-49986951	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs192425892	chr3:49986971-49986972	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs116850412	chr3:49987013-49987014	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554924261	chr3:49987041-49987042	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs114921320	chr3:49987054-49987055	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184401471	chr3:49987188-49987189	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs13097889	chr3:49987220-49987221	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs564980404	chr3:49987325-49987326	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs576923380	chr3:49987352-49987353	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs545109940	chr3:49987390-49987391	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560182446	chr3:49987414-49987415	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs527703989	chr3:49987430-49987431	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs7615318	chr3:49987475-49987476	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs76425961	chr3:49987584-49987585	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531951223	chr3:49987590-49987591	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs550443560	chr3:49987659-49987660	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571748527	chr3:49987715-49987716	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs368587906	chr3:49987790-49987791	Enhancers Weak transcription	Chromatin interactive region	1 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
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49978600-49986400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:49978600-49986800	Weak transcription	Left Ventricle	heart
3	chr3:49978600-49988800	Weak transcription	Aorta	Aorta
4	chr3:49978800-49986800	Weak transcription	Stomach Mucosa	stomach
5	chr3:49978800-49987000	Weak transcription	Small Intestine	intestine
6	chr3:49978800-49987400	Weak transcription	Brain Anterior Caudate	brain
7	chr3:49978800-49987400	Weak transcription	K562	blood
8	chr3:49978800-49987600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:49978800-49987600	Weak transcription	Brain Substantia Nigra	brain
10	chr3:49978800-49987600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:49978800-49987600	Weak transcription	A549	lung
12	chr3:49978800-49987600	Weak transcription	HUVEC	blood vessel
13	chr3:49978800-49987800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:49978800-50000600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:49978800-50004800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:49978800-50009600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:49978800-50009600	Weak transcription	Fetal Kidney	kidney
18	chr3:49978800-50041000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr3:49979000-49986800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr3:49979000-49987000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr3:49979000-49987400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:49979000-49987400	Weak transcription	Gastric	stomach
23	chr3:49979000-49987400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:49979000-49987400	Weak transcription	Hela-S3	cervix
25	chr3:49979000-49987400	Weak transcription	NH-A	brain
26	chr3:49979000-49987400	Weak transcription	NHEK	skin
27	chr3:49979000-49987600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:49979000-49987600	Weak transcription	Brain Hippocampus Middle	brain
29	chr3:49979000-49987600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr3:49979000-49987600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:49979000-49987600	Weak transcription	Fetal Heart	heart
32	chr3:49979000-49987600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr3:49979000-49987600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr3:49979000-49987600	Weak transcription	HMEC	breast
35	chr3:49979000-49987800	Weak transcription	Pancreas	Pancrea
36	chr3:49979000-49988800	Weak transcription	Spleen	Spleen
37	chr3:49979000-49990200	Weak transcription	Fetal Lung	lung
38	chr3:49979000-49990600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:49979000-49994600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:49979000-49997400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr3:49979000-50000000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr3:49979000-50000600	Weak transcription	Primary T cells from cord blood	blood
43	chr3:49979000-50001000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr3:49979000-50003400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:49979000-50003600	Weak transcription	Right Ventricle	heart
46	chr3:49979000-50005200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr3:49979000-50010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:49979400-49986800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:49979400-49987000	Weak transcription	NHLF	lung
50	chr3:49979400-49987400	Weak transcription	Brain Cingulate Gyrus	brain

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