Variant report

Variant	rs61846617
Chromosome Location	chr10:50748274-50748275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50737860..50742863-chr10:50744224..50749108,7	MCF-7	breast:
2	chr10:50746990..50749930-chr10:50758500..50760326,2	MCF-7	breast:
3	chr10:50738435..50741425-chr10:50746279..50748741,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271237	Chromatin interaction
ENSG00000225830	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1130028	0.95[EUR][1000 genomes]
rs11812473	0.93[EUR][1000 genomes]
rs11815156	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11819019	0.95[EUR][1000 genomes]
rs17010079	0.93[EUR][1000 genomes]
rs17719092	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17775180	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2228526	0.96[EUR][1000 genomes]
rs2228527	0.95[EUR][1000 genomes]
rs2228529	0.95[EUR][1000 genomes]
rs36079558	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253011	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4253028	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4253042	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4253049	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4253055	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4253101	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4253106	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4253121	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4253165	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4253166	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4253193	0.96[EUR][1000 genomes]
rs56164647	0.95[EUR][1000 genomes]
rs58002245	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs58711755	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58912975	0.92[EUR][1000 genomes]
rs59898389	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61846612	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61846615	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61846616	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61846618	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61846620	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61846637	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61850971	0.92[EUR][1000 genomes]
rs61850976	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7073830	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7079192	0.88[EUR][1000 genomes]
rs7093098	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7097122	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7097866	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7909222	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7920256	0.96[EUR][1000 genomes]
rs971667	0.80[AFR][1000 genomes];0.96[EUR][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50747200-50748400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr10:50747600-50748800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr10:50747800-50748400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:50748000-50748400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr10:50748000-50748400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr10:50748000-50748400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:50748000-50748400	Enhancers	Duodenum Mucosa	Duodenum
8	chr10:50748000-50748400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr10:50748000-50748400	Enhancers	Fetal Intestine Large	intestine
10	chr10:50748000-50748400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr10:50748000-50748400	Enhancers	Placenta	Placenta
12	chr10:50748000-50748400	Enhancers	Lung	lung
13	chr10:50748000-50748400	Enhancers	Pancreas	Pancrea
14	chr10:50748000-50748600	Enhancers	HUVEC	blood vessel
15	chr10:50748000-50748800	Enhancers	Primary B cells from cord blood	blood
16	chr10:50748000-50748800	Enhancers	Primary B cells from peripheral blood	blood
17	chr10:50748000-50748800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr10:50748000-50748800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:50748000-50750800	Weak transcription	Right Atrium	heart
20	chr10:50748200-50748400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr10:50748200-50748400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr10:50748200-50748400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr10:50748200-50748800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr10:50748200-50749200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr10:50748200-50749200	Enhancers	K562	blood
26	chr10:50748200-50752800	Weak transcription	Hela-S3	cervix

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