Variant report

Variant	rs56362385
Chromosome Location	chr5:68656026-68656027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68486834..68488364-chr5:68655357..68658239,2	K562	blood:
2	chr5:68655369..68657333-chr5:68659094..68660959,2	MCF-7	breast:
3	chr5:68654794..68656997-chr5:68664344..68666032,2	MCF-7	breast:
4	chr5:68654797..68657370-chr5:68660109..68661621,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000085231	Chromatin interaction
ENSG00000152942	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs17236219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236450	1.00[AMR][1000 genomes]
rs17236618	1.00[EUR][1000 genomes]
rs17236639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4252222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4252226	1.00[EUR][1000 genomes]
rs4252229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55754329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55764482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56112110	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57344277	1.00[EUR][1000 genomes]
rs57402724	1.00[EUR][1000 genomes]
rs57714822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58172827	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58381452	1.00[EUR][1000 genomes]
rs58742544	1.00[EUR][1000 genomes]
rs59233462	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59776629	1.00[EUR][1000 genomes]
rs59799008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60644166	1.00[AMR][1000 genomes]
rs61244656	1.00[EUR][1000 genomes]
rs61290150	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6861518	1.00[EUR][1000 genomes]
rs6876889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772537	1.00[AMR][1000 genomes]
rs73772541	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772542	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7725200	1.00[EUR][1000 genomes]
rs8192269	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv881767	chr5:68625786-68733698	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68638000-68660200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr5:68639200-68663400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:68643000-68664400	Weak transcription	Colonic Mucosa	Colon
4	chr5:68643200-68663200	Weak transcription	Small Intestine	intestine
5	chr5:68643800-68660400	Weak transcription	NHEK	skin
6	chr5:68643800-68660800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:68643800-68663600	Weak transcription	Brain Angular Gyrus	brain
8	chr5:68644000-68660600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:68644200-68660200	Weak transcription	HSMMtube	muscle
10	chr5:68644800-68658200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:68644800-68660800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:68645200-68660600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:68645600-68658400	Weak transcription	Gastric	stomach
14	chr5:68645800-68660800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:68645800-68663400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:68646200-68660400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:68646200-68661000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:68646200-68661000	Weak transcription	Pancreas	Pancrea
19	chr5:68646400-68658000	Weak transcription	Lung	lung
20	chr5:68646400-68658200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:68646400-68660800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:68646600-68660400	Weak transcription	Ovary	ovary
23	chr5:68646600-68661000	Weak transcription	Psoas Muscle	Psoas
24	chr5:68646800-68660400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:68647000-68660200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:68647200-68660400	Weak transcription	NHLF	lung
27	chr5:68647400-68660400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:68647400-68660400	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:68647400-68660400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr5:68647400-68663400	Weak transcription	Fetal Brain Male	brain
31	chr5:68647400-68663800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:68648200-68658000	Weak transcription	Brain Anterior Caudate	brain
33	chr5:68648400-68663400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:68648600-68660200	Weak transcription	Fetal Kidney	kidney
35	chr5:68648800-68658000	Weak transcription	Fetal Brain Female	brain
36	chr5:68649000-68658200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:68649000-68660200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr5:68649200-68663600	Weak transcription	Brain Substantia Nigra	brain
39	chr5:68649400-68663400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:68650000-68658200	Weak transcription	Thymus	Thymus
41	chr5:68650200-68656600	Strong transcription	HSMM	muscle
42	chr5:68650200-68658200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:68650600-68658000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr5:68650600-68660200	Weak transcription	Hela-S3	cervix
45	chr5:68651000-68658600	Weak transcription	HMEC	breast
46	chr5:68651000-68659800	Weak transcription	NH-A	brain
47	chr5:68651200-68656600	Weak transcription	Placenta	Placenta
48	chr5:68651200-68658000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:68651200-68658000	Weak transcription	Brain Germinal Matrix	brain
50	chr5:68651400-68658000	Weak transcription	Fetal Lung	lung

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