Variant report

Variant	rs10876024
Chromosome Location	chr12:50747005-50747006
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	chr12:50728708..50730581-chr12:50746052..50748839,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10467106	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10506292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10783344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10783352	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10783353	0.81[AFR][1000 genomes]
rs10876014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10876015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10876017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10876023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs11169315	1.00[CEU][hapmap]
rs11169322	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs11169331	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs11169332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs11169335	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs11169348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11169350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11169351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11169357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11169360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11169370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11833608	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11838347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12299669	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12299758	0.81[EUR][1000 genomes]
rs12303082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs12367872	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap]
rs12422417	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12424691	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs12424713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs12425705	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs12828340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs1362983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2111988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2302900	0.95[CEU][hapmap]
rs2358539	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs3812825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4348979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs4421818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4445717	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4768951	0.92[CEU][hapmap]
rs6580736	0.96[CEU][hapmap]
rs6580738	0.96[CEU][hapmap]
rs7132551	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7134595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7138420	0.95[CEU][hapmap]
rs7138622	0.96[CEU][hapmap]
rs7296291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7311973	1.00[CEU][hapmap]
rs7312252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs7315690	0.95[CEU][hapmap]
rs7486747	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7487429	0.82[CEU][hapmap]
rs7953953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7972824	0.80[EUR][1000 genomes]
rs7979830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9668187	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9739363	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv1053667	chr12:50679039-50801752	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	esv3441635	chr12:50745840-50747133	Bivalent Enhancer Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10876024	DIP2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50743200-50747200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:50743600-50747800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:50745400-50747200	Weak transcription	Ovary	ovary
4	chr12:50745400-50747600	Weak transcription	Adipose Nuclei	Adipose
5	chr12:50745600-50747200	Weak transcription	Stomach Mucosa	stomach
6	chr12:50745600-50747200	Weak transcription	NHDF-Ad	bronchial
7	chr12:50745600-50747600	Weak transcription	Placenta	Placenta
8	chr12:50745600-50747800	Weak transcription	Fetal Intestine Small	intestine
9	chr12:50746400-50747200	Enhancers	Dnd41	blood
10	chr12:50746600-50747800	Enhancers	Spleen	Spleen
11	chr12:50746800-50747200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:50746800-50747800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:50746800-50748200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:50746800-50748200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:50747000-50748200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr12:50747000-50748200	Enhancers	Fetal Thymus	thymus
17	chr12:50747000-50748400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr12:50747000-50749400	Enhancers	HepG2	liver

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