Variant report

Variant	rs10006230
Chromosome Location	chr4:15713803-15713804
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	chr4:15656159..15658615-chr4:15712805..15714316,2	K562	blood:

Variant related genes	Relation type
ENSG00000118564	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10003929	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10005158	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10027900	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10034462	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10223039	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10516293	1.00[MEX][hapmap]
rs11930259	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13327973	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13328011	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892089	1.00[CHB][hapmap]
rs28374013	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489118	0.90[AFR][1000 genomes]
rs28546094	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4698115	0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6821494	0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6832789	0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6844272	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7437025	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7656942	0.81[YRI][hapmap]
rs7658171	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7658528	0.95[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7674380	0.95[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7684550	0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7690497	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9884443	0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15697600-15723600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:15705000-15735200	Weak transcription	Lung	lung
3	chr4:15705200-15716200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:15705200-15716200	Weak transcription	Brain Anterior Caudate	brain
5	chr4:15705200-15720400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:15705200-15720600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:15705200-15731000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:15705400-15715800	Weak transcription	Fetal Lung	lung
9	chr4:15705400-15715800	Weak transcription	Fetal Stomach	stomach
10	chr4:15705400-15715800	Weak transcription	NH-A	brain
11	chr4:15705400-15716200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:15705400-15716200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:15705400-15716200	Weak transcription	A549	lung
14	chr4:15705400-15718800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:15705400-15727400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:15705600-15714000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:15705800-15715600	Weak transcription	Osteobl	bone
18	chr4:15705800-15716200	Weak transcription	Fetal Intestine Large	intestine
19	chr4:15705800-15719400	Weak transcription	Spleen	Spleen
20	chr4:15706000-15727800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr4:15707400-15742800	Weak transcription	Primary B cells from cord blood	blood
22	chr4:15708000-15716200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:15708800-15720200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr4:15708800-15739400	Weak transcription	Ovary	ovary
25	chr4:15709000-15716000	Weak transcription	Fetal Brain Female	brain
26	chr4:15709200-15719600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr4:15709400-15731800	Weak transcription	Brain Hippocampus Middle	brain
28	chr4:15710000-15718800	Weak transcription	Hela-S3	cervix
29	chr4:15710000-15723600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:15710600-15714000	Weak transcription	Fetal Intestine Small	intestine
31	chr4:15710600-15716200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:15711400-15720200	Weak transcription	HepG2	liver
33	chr4:15711800-15719400	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr4:15712200-15717400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:15713200-15714400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:15713200-15714600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:15713200-15714600	Strong transcription	Adipose Nuclei	Adipose
38	chr4:15713600-15714800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:15713800-15714600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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