Variant report

Variant	rs57230193
Chromosome Location	chr5:177559272-177559273
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177556499..177561085-chr5:177629309..177633856,7	K562	blood:
2	chr5:177556214..177559808-chr5:177575521..177582645,10	K562	blood:
3	chr5:177556514..177559685-chr5:177630098..177633052,4	K562	blood:
4	chr5:177556823..177560281-chr5:177564764..177567288,3	K562	blood:
5	chr5:177559160..177561147-chr5:177631498..177633135,2	MCF-7	breast:
6	chr5:177555803..177560183-chr5:177628551..177633825,8	MCF-7	breast:
7	chr5:176923371..176925329-chr5:177557854..177560543,2	MCF-7	breast:
8	chr5:177558100..177560422-chr6:27113137..27116043,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145912	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000145916	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000196923	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10054932	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34342590	0.80[EUR][1000 genomes]
rs3812076	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3812081	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3935147	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7712666	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7718478	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7721220	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030383	chr5:177310325-177571254	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
3	nsv1021198	chr5:177386267-177611648	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
5	nsv462567	chr5:177505021-177572927	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv471058	chr5:177505021-177572927	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv600392	chr5:177505021-177572927	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
9	nsv883190	chr5:177532201-177620189	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv883192	chr5:177535370-177564346	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv600394	chr5:177549491-177608195	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	esv3424416	chr5:177556571-177559319	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177556800-177559600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:177557200-177559600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:177557400-177559400	Active TSS	Esophagus	oesophagus
4	chr5:177557800-177559600	Active TSS	Colonic Mucosa	Colon
5	chr5:177558400-177559600	Enhancers	Spleen	Spleen
6	chr5:177558600-177559800	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr5:177558800-177559600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:177558800-177559600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr5:177558800-177559800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr5:177558800-177562200	Weak transcription	Aorta	Aorta
11	chr5:177558800-177569600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:177558800-177576800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:177559000-177559400	Enhancers	Duodenum Mucosa	Duodenum
14	chr5:177559000-177559400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr5:177559000-177559400	Enhancers	Fetal Heart	heart
16	chr5:177559000-177559400	Enhancers	Fetal Intestine Small	intestine
17	chr5:177559000-177559400	Enhancers	Placenta	Placenta
18	chr5:177559000-177559600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:177559000-177559600	Enhancers	Primary B cells from cord blood	blood
20	chr5:177559000-177559600	Enhancers	Brain Anterior Caudate	brain
21	chr5:177559000-177559600	Enhancers	Brain Cingulate Gyrus	brain
22	chr5:177559000-177559600	Enhancers	Brain Hippocampus Middle	brain
23	chr5:177559000-177559600	Enhancers	Fetal Kidney	kidney
24	chr5:177559000-177559600	Enhancers	Stomach Mucosa	stomach
25	chr5:177559000-177559800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:177559000-177559800	Enhancers	Fetal Brain Male	brain
27	chr5:177559000-177559800	Enhancers	Fetal Muscle Trunk	muscle
28	chr5:177559000-177559800	Enhancers	Fetal Muscle Leg	muscle
29	chr5:177559000-177559800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr5:177559000-177560400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:177559000-177560400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:177559000-177560400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr5:177559000-177560600	Weak transcription	Fetal Stomach	stomach
34	chr5:177559000-177560800	Weak transcription	A549	lung
35	chr5:177559000-177561000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr5:177559000-177561000	Weak transcription	Brain Substantia Nigra	brain
37	chr5:177559000-177561000	Weak transcription	Ovary	ovary
38	chr5:177559000-177561200	Weak transcription	Primary T cells from cord blood	blood
39	chr5:177559000-177561200	Weak transcription	Fetal Lung	lung
40	chr5:177559000-177561800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:177559000-177562400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:177559000-177562400	Weak transcription	Osteobl	bone
43	chr5:177559000-177562600	Weak transcription	Fetal Intestine Large	intestine
44	chr5:177559000-177562800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:177559000-177562800	Weak transcription	NH-A	brain
46	chr5:177559000-177563000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:177559000-177565000	Weak transcription	Brain Angular Gyrus	brain
48	chr5:177559000-177569000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr5:177559000-177569200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:177559000-177569200	Weak transcription	Muscle Satellite Cultured Cells	--

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