Variant report

Variant	rs61170754
Chromosome Location	chr4:15487329-15487330
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	chr4:15486404..15488431-chr4:15495017..15497202,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10004540	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10032808	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11942186	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11942959	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11946436	0.82[EUR][1000 genomes]
rs13353624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1468737	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1861049	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1861050	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2192359	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2192360	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2192361	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2192362	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28405315	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28448602	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28465445	0.94[ASN][1000 genomes]
rs28517424	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28697056	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3822297	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4698107	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4698108	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4698381	0.86[EUR][1000 genomes]
rs4698383	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4698384	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60487386	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6814988	0.86[EUR][1000 genomes]
rs6836616	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6837765	0.86[EUR][1000 genomes]
rs73235019	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7656974	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7661435	0.80[ASN][1000 genomes]
rs971490	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9998722	0.88[AMR][1000 genomes];0.86[ASN][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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15481600-15488000	Weak transcription	HSMMtube	muscle
2	chr4:15481600-15490200	Weak transcription	Esophagus	oesophagus
3	chr4:15481600-15498600	Weak transcription	Liver	Liver
4	chr4:15481600-15519000	Weak transcription	Gastric	stomach
5	chr4:15481800-15488200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:15482000-15487600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:15482000-15489600	Weak transcription	Brain Substantia Nigra	brain
8	chr4:15482000-15491000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:15482000-15491800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:15482200-15487600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:15482200-15490400	Weak transcription	A549	lung
12	chr4:15482200-15519800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:15482400-15489600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:15482600-15487400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:15482600-15487600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:15482600-15487600	Strong transcription	Stomach Smooth Muscle	stomach
17	chr4:15482600-15516600	Weak transcription	Brain Angular Gyrus	brain
18	chr4:15482600-15526400	Weak transcription	HMEC	breast
19	chr4:15482800-15489600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:15482800-15518200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:15483000-15490200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:15483200-15487400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:15483600-15493400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:15483600-15498600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:15484800-15490000	Weak transcription	Osteobl	bone
26	chr4:15485000-15487800	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:15485000-15487800	Weak transcription	Fetal Intestine Large	intestine
28	chr4:15485000-15490200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:15485000-15490200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr4:15485000-15490200	Weak transcription	Fetal Intestine Small	intestine
31	chr4:15485000-15490200	Weak transcription	Lung	lung
32	chr4:15485000-15504800	Weak transcription	Ovary	ovary
33	chr4:15485200-15494400	Weak transcription	Fetal Heart	heart
34	chr4:15485600-15489800	Weak transcription	NHLF	lung
35	chr4:15485800-15487800	Strong transcription	Fetal Lung	lung
36	chr4:15486200-15488200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:15486200-15490200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:15486200-15490200	Weak transcription	Aorta	Aorta
39	chr4:15486200-15490200	Weak transcription	Fetal Stomach	stomach
40	chr4:15486200-15490200	Weak transcription	Left Ventricle	heart
41	chr4:15486400-15487800	ZNF genes & repeats	Fetal Muscle Leg	muscle
42	chr4:15486600-15487400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:15486600-15487400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr4:15486600-15487400	Strong transcription	Brain Cingulate Gyrus	brain
45	chr4:15486600-15487400	ZNF genes & repeats	Fetal Kidney	kidney
46	chr4:15486600-15490000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:15486600-15490200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr4:15486600-15499800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:15486800-15487800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:15486800-15490200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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