Variant report

Variant	rs245186
Chromosome Location	chr5:127194286-127194287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr5:127193890-127194406	HUVEC	blood vessel:	n/a	n/a
2	TAL1	chr5:127194096-127194296	K562	blood:	n/a	n/a
3	JUN	chr5:127193875-127194549	HUVEC	blood vessel:	n/a	n/a
4	REST	chr5:127193834-127194652	H1-neurons	neurons:	n/a	n/a
5	JUN	chr5:127194091-127194291	K562	blood:	n/a	n/a
6	POLR2A	chr5:127193904-127194507	HUVEC	blood vessel:	n/a	n/a
7	REST	chr5:127193868-127194553	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127193954..127196156-chr5:127196517..127199360,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250603	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs122730	0.88[CEU][hapmap]
rs1421750	0.95[CEU][hapmap];0.85[JPT][hapmap]
rs151849	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs151855	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs151879	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs151880	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151881	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151882	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151883	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs151884	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs151885	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1579284	0.84[ASN][1000 genomes]
rs181746	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245156	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs245158	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs245167	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs245177	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs245178	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs245179	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs245180	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs245181	0.96[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs245182	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245183	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245187	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245191	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245192	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245193	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245194	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245197	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs245198	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs245199	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs245200	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs245201	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs245221	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs245237	0.85[JPT][hapmap]
rs245310	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs245311	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs245313	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs245314	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs245327	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2764766	0.95[CEU][hapmap];0.85[JPT][hapmap]
rs6864687	0.87[CHB][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv4992	chr5:127151699-127196349	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1797587	chr5:127156760-127196066	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127188400-127203600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr5:127189800-127199600	Weak transcription	Small Intestine	intestine
3	chr5:127191600-127195800	Enhancers	Stomach Mucosa	stomach
4	chr5:127192200-127194600	Enhancers	Duodenum Mucosa	Duodenum
5	chr5:127192600-127203200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:127193200-127194600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:127193400-127194600	Enhancers	Fetal Heart	heart
8	chr5:127193600-127194400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:127193600-127195000	Enhancers	HUVEC	blood vessel
10	chr5:127193800-127194400	Enhancers	Brain Cingulate Gyrus	brain
11	chr5:127193800-127194400	Enhancers	Fetal Intestine Large	intestine
12	chr5:127193800-127194600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr5:127193800-127195200	Enhancers	Fetal Intestine Small	intestine
14	chr5:127194000-127194400	Enhancers	Brain Angular Gyrus	brain
15	chr5:127194000-127194400	Enhancers	Colon Smooth Muscle	Colon
16	chr5:127194000-127194400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr5:127194000-127194600	Enhancers	Brain Anterior Caudate	brain
18	chr5:127194000-127194600	Enhancers	Brain Hippocampus Middle	brain
19	chr5:127194000-127194600	Enhancers	Stomach Smooth Muscle	stomach
20	chr5:127194000-127194800	Enhancers	Brain Substantia Nigra	brain
21	chr5:127194000-127199200	Weak transcription	Aorta	Aorta
22	chr5:127194200-127194600	Enhancers	Psoas Muscle	Psoas
23	chr5:127194200-127198000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr5:127194200-127213800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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