Variant report

Variant	esv3367998
Chromosome Location	chr5:120836253-120839251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375025170	chr5:120836259-120836260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183702521	chr5:120836281-120836282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116341387	chr5:120836317-120836318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186585375	chr5:120836326-120836327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2115330	chr5:120836348-120836349	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs139168713	chr5:120836349-120836350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549114403	chr5:120836376-120836377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2115329	chr5:120836397-120836398	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs560753804	chr5:120836424-120836425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78802284	chr5:120836435-120836436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369728491	chr5:120836437-120836438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191490070	chr5:120836464-120836465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565192305	chr5:120836609-120836610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537767369	chr5:120836621-120836622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552734131	chr5:120836650-120836651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373634895	chr5:120836651-120836652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538686043	chr5:120836668-120836669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550418560	chr5:120836740-120836741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182436358	chr5:120836744-120836745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554815319	chr5:120836763-120836764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558248168	chr5:120836791-120836792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535821554	chr5:120836802-120836803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554175952	chr5:120836822-120836823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572789584	chr5:120836851-120836852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149920049	chr5:120836908-120836909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10478521	chr5:120836922-120836923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17461770	chr5:120836941-120836942	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs375939731	chr5:120836944-120836945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555672810	chr5:120836960-120836961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186755767	chr5:120836965-120836966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576983690	chr5:120837008-120837009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115541300	chr5:120837082-120837083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562949365	chr5:120837126-120837127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374346840	chr5:120837156-120837157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575021955	chr5:120837180-120837181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191222757	chr5:120837183-120837184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1428711	chr5:120837185-120837186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183426314	chr5:120837248-120837249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189067895	chr5:120837278-120837279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553507478	chr5:120837324-120837325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145094031	chr5:120837416-120837417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572048857	chr5:120837458-120837459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs5870965	chr5:120837479-120837480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397775105	chr5:120837480-120837481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568593664	chr5:120837521-120837522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11411225	chr5:120837531-120837532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397691590	chr5:120837533-120837534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56702722	chr5:120837540-120837541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535981180	chr5:120837544-120837545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367704148	chr5:120837569-120837570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120835600-120836400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr5:120835600-120836600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:120835600-120836600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:120835600-120836600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:120835600-120836600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:120835600-120836600	Enhancers	Brain Germinal Matrix	brain
7	chr5:120835600-120836800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:120835600-120837000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:120835600-120837000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:120835800-120836400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:120835800-120836600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:120835800-120836600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:120835800-120836600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:120836000-120836400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:120836000-120836400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr5:120836200-120836600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:120836400-120836600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr5:120836400-120839000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:120836600-120838400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:120836600-120838600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:120836600-120838600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:120836600-120838600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:120836600-120838800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr5:120836600-120839000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr5:120836600-120839000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:120836600-120839400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:120837000-120839000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:120838200-120838800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:120838400-120839600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr5:120838600-120839600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr5:120838600-120839800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr5:120838600-120839800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr5:120838800-120839200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:120838800-120839400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr5:120838800-120839800	Enhancers	Fetal Heart	heart
36	chr5:120839000-120839400	Enhancers	Adipose Nuclei	Adipose
37	chr5:120839000-120839400	Enhancers	Fetal Lung	lung
38	chr5:120839000-120839400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr5:120839000-120839600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr5:120839000-120839600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:120839000-120839600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr5:120839000-120839600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr5:120839200-120839600	Enhancers	Brain Hippocampus Middle	brain
44	chr5:120839200-120839800	Enhancers	Dnd41	blood
45	chr5:120839200-120840400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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