Variant report

Variant	rs1863601
Chromosome Location	chr15:43495212-43495213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43495127..43497089-chr15:43559128..43561909,2	K562	blood:
2	chr15:43474834..43477701-chr15:43493779..43495279,2	MCF-7	breast:
3	chr15:43486542..43488730-chr15:43494665..43496385,2	K562	blood:
4	chr15:43485802..43488826-chr15:43494218..43496836,3	K562	blood:
5	chr15:43492792..43496701-chr15:43499050..43501671,3	K562	blood:
6	chr15:43478405..43480682-chr15:43493696..43496696,3	K562	blood:

Variant related genes	Relation type
ENSG00000166946	Chromatin interaction
ENSG00000261679	Chromatin interaction
ENSG00000261687	Chromatin interaction
ENSG00000166947	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10048057	1.00[EUR][1000 genomes]
rs10083725	1.00[EUR][1000 genomes]
rs10152237	1.00[EUR][1000 genomes]
rs10220812	1.00[EUR][1000 genomes]
rs1042168	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs10438267	1.00[EUR][1000 genomes]
rs10467909	1.00[EUR][1000 genomes]
rs1078243	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11504654	1.00[EUR][1000 genomes]
rs11504655	1.00[EUR][1000 genomes]
rs12324094	1.00[EUR][1000 genomes]
rs12324436	1.00[EUR][1000 genomes]
rs12324573	1.00[EUR][1000 genomes]
rs1474199	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs1520519	1.00[EUR][1000 genomes]
rs16957409	1.00[EUR][1000 genomes]
rs16957462	1.00[EUR][1000 genomes]
rs16957499	1.00[EUR][1000 genomes]
rs16957502	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs16957507	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs16957739	1.00[EUR][1000 genomes]
rs2004809	1.00[EUR][1000 genomes]
rs2271964	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271965	0.82[ASW][hapmap];1.00[GIH][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28444219	1.00[EUR][1000 genomes]
rs28539201	1.00[EUR][1000 genomes]
rs3177296	0.82[ASW][hapmap];1.00[GIH][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34222269	1.00[EUR][1000 genomes]
rs3803340	0.90[JPT][hapmap]
rs4419035	1.00[EUR][1000 genomes]
rs505276	1.00[EUR][1000 genomes]
rs57287824	1.00[ASN][1000 genomes]
rs58059509	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59401274	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59900401	1.00[EUR][1000 genomes]
rs60435696	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60481556	1.00[EUR][1000 genomes]
rs61268760	1.00[EUR][1000 genomes]
rs61343376	1.00[EUR][1000 genomes]
rs61711558	1.00[EUR][1000 genomes]
rs7162620	1.00[EUR][1000 genomes]
rs7162971	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7171797	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs7176183	1.00[EUR][1000 genomes]
rs7182685	1.00[EUR][1000 genomes]
rs7183024	1.00[EUR][1000 genomes]
rs8030850	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs8035881	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8039342	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs8040769	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs8040960	1.00[EUR][1000 genomes]
rs8041312	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9806236	1.00[EUR][1000 genomes]
rs9806629	1.00[EUR][1000 genomes]
rs9972314	1.00[GIH][hapmap];0.81[LWK][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9972367	1.00[EUR][1000 genomes]
rs999025	1.00[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	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1863601	CCNDBP1	cis	multi-tissue	Pritchard

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43478600-43496200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:43482800-43496400	Weak transcription	A549	lung
3	chr15:43485000-43496400	Weak transcription	Stomach Mucosa	stomach
4	chr15:43485200-43496400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:43487400-43496000	Weak transcription	HMEC	breast
6	chr15:43487400-43496800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr15:43487600-43496400	Weak transcription	HUVEC	blood vessel
8	chr15:43488200-43496200	Weak transcription	Hela-S3	cervix
9	chr15:43489400-43496200	Weak transcription	Left Ventricle	heart
10	chr15:43489600-43496000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr15:43489600-43496400	Weak transcription	Psoas Muscle	Psoas
12	chr15:43489800-43496200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:43489800-43496200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:43489800-43496200	Weak transcription	Pancreas	Pancrea
15	chr15:43489800-43496200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr15:43489800-43496400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr15:43489800-43496400	Weak transcription	Right Ventricle	heart
18	chr15:43489800-43496600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:43489800-43496600	Weak transcription	Brain Hippocampus Middle	brain
20	chr15:43489800-43496800	Weak transcription	HSMM	muscle
21	chr15:43489800-43503000	Weak transcription	K562	blood
22	chr15:43489800-43513200	Weak transcription	Right Atrium	heart
23	chr15:43490000-43496200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:43490000-43496400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:43490000-43496400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:43490000-43496400	Weak transcription	Thymus	Thymus
27	chr15:43490200-43496000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:43490400-43498800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr15:43490600-43496400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr15:43490600-43496400	Weak transcription	Adipose Nuclei	Adipose
31	chr15:43490600-43496800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr15:43490600-43497200	Weak transcription	Primary B cells from cord blood	blood
33	chr15:43491200-43498800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:43491600-43496200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr15:43492600-43501000	Weak transcription	Spleen	Spleen
36	chr15:43494400-43496600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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