Variant report

Variant	rs13131700
Chromosome Location	chr4:15485238-15485239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15300680..15303495-chr4:15484147..15486519,2	K562	blood:
2	chr4:15484757..15487117-chr4:15489258..15491846,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1058412	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10939619	0.81[AMR][1000 genomes]
rs11722737	1.00[ASN][1000 genomes]
rs11728225	1.00[ASN][1000 genomes]
rs11728800	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11737539	0.83[ASN][1000 genomes]
rs12500458	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13118306	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13132762	0.82[CHB][hapmap]
rs13149679	0.85[CHB][hapmap];0.85[YRI][hapmap]
rs13152775	0.82[CHB][hapmap];0.85[YRI][hapmap]
rs16892040	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17384915	0.85[CHB][hapmap]
rs17385047	0.85[CHB][hapmap];0.84[YRI][hapmap]
rs17469433	0.85[CHB][hapmap]
rs17469572	0.85[CHB][hapmap];0.84[YRI][hapmap]
rs17469704	0.83[ASN][1000 genomes]
rs1861048	0.85[CEU][hapmap]
rs2080176	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs2080177	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs2110362	0.83[ASN][1000 genomes]
rs2314588	0.83[ASN][1000 genomes]
rs2314590	0.85[CHB][hapmap];0.84[YRI][hapmap];0.83[ASN][1000 genomes]
rs3087622	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33998592	0.80[AMR][1000 genomes]
rs34465372	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4063953	0.85[EUR][1000 genomes]
rs4140933	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs4140934	0.85[EUR][1000 genomes]
rs4698112	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs4698387	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4698395	0.88[CEU][hapmap];0.80[AMR][1000 genomes]
rs6810461	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs7675761	0.88[CEU][hapmap];0.80[AMR][1000 genomes]
rs9993748	0.85[EUR][1000 genomes]
rs9998686	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs9998697	0.84[EUR][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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15481400-15486200	Weak transcription	Spleen	Spleen
2	chr4:15481600-15488000	Weak transcription	HSMMtube	muscle
3	chr4:15481600-15490200	Weak transcription	Esophagus	oesophagus
4	chr4:15481600-15498600	Weak transcription	Liver	Liver
5	chr4:15481600-15519000	Weak transcription	Gastric	stomach
6	chr4:15481800-15488200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:15482000-15485400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:15482000-15486400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr4:15482000-15486600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:15482000-15487000	Weak transcription	HSMM	muscle
11	chr4:15482000-15487600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:15482000-15489600	Weak transcription	Brain Substantia Nigra	brain
13	chr4:15482000-15491000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:15482000-15491800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:15482200-15486200	Strong transcription	Fetal Stomach	stomach
16	chr4:15482200-15486400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:15482200-15486600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr4:15482200-15487600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:15482200-15490400	Weak transcription	A549	lung
20	chr4:15482200-15519800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:15482400-15485600	Weak transcription	HepG2	liver
22	chr4:15482400-15486000	Weak transcription	Brain Anterior Caudate	brain
23	chr4:15482400-15486200	Strong transcription	Left Ventricle	heart
24	chr4:15482400-15486800	Weak transcription	Fetal Brain Male	brain
25	chr4:15482400-15489600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:15482600-15485800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:15482600-15486400	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr4:15482600-15486600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr4:15482600-15486800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:15482600-15487400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:15482600-15487600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:15482600-15487600	Strong transcription	Stomach Smooth Muscle	stomach
33	chr4:15482600-15516600	Weak transcription	Brain Angular Gyrus	brain
34	chr4:15482600-15526400	Weak transcription	HMEC	breast
35	chr4:15482800-15489600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr4:15482800-15518200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:15483000-15490200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:15483200-15486600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:15483200-15487400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:15483400-15485600	Strong transcription	NHLF	lung
41	chr4:15483400-15486400	Strong transcription	Fetal Muscle Leg	muscle
42	chr4:15483600-15486600	Weak transcription	Fetal Kidney	kidney
43	chr4:15483600-15493400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:15483600-15498600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr4:15483800-15485600	Weak transcription	NH-A	brain
46	chr4:15483800-15486600	Weak transcription	Adipose Nuclei	Adipose
47	chr4:15484000-15485600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:15484000-15486200	Strong transcription	Aorta	Aorta
49	chr4:15484200-15485800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:15484200-15486000	Weak transcription	H1 Cell Line	embryonic stem cell

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