Variant report

Variant	rs36018702
Chromosome Location	chr2:111928373-111928374
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:111878338..111880569-chr2:111927495..111930183,2	MCF-7	breast:
2	chr2:111914059..111916689-chr2:111925221..111929362,3	MCF-7	breast:
3	chr2:111927830..111930159-chr2:111935150..111938142,2	MCF-7	breast:
4	chr2:111923929..111929033-chr2:111931509..111935010,6	K562	blood:
5	chr2:111926311..111928837-chr2:111932498..111934410,2	MCF-7	breast:
6	chr2:111877458..111882272-chr2:111927406..111930340,8	K562	blood:
7	chr2:111920278..111923982-chr2:111925821..111929846,4	K562	blood:

Variant related genes	Relation type
ENSG00000153094	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13396983	0.92[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17558117	0.87[ASW][hapmap];0.92[CEU][hapmap];0.86[CHB][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1877331	0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1980045	0.88[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2015454	0.87[ASW][hapmap];0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2241843	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2241845	0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3827536	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4848393	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4849417	0.85[ASN][1000 genomes]
rs4849442	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs590097	0.83[TSI][hapmap]
rs616084	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs616130	0.88[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs616582	0.92[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6542334	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6738028	0.85[CEU][hapmap];0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs6746608	0.92[CEU][hapmap];0.84[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6750599	0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6753785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758181	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs676119	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7567444	0.87[ASW][hapmap];0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9308731	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv1803356	chr2:111899783-112662597	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv428402	chr2:111899783-112662597	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS 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 miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs36018702	BCL2L11	cis	multi-tissue	Pritchard
rs36018702	BCL2L11	cis	cerebellum	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111920800-111943000	Weak transcription	Right Ventricle	heart
2	chr2:111921200-111939400	Weak transcription	Right Atrium	heart
3	chr2:111921400-111928800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:111921400-111932200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:111922200-111928600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:111923000-111929000	Weak transcription	Spleen	Spleen
7	chr2:111923800-111929600	Weak transcription	Aorta	Aorta
8	chr2:111924000-111929000	Weak transcription	Pancreas	Pancrea
9	chr2:111924000-111931600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:111924400-111931600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:111925000-111928400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:111925000-111932200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:111925000-111934000	Weak transcription	Fetal Intestine Large	intestine
14	chr2:111925200-111928800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:111925400-111929000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:111925600-111929000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:111925600-111929000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:111925600-111929000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:111925600-111929000	Weak transcription	HepG2	liver
20	chr2:111925600-111931600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:111925800-111931600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:111926200-111928600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:111926200-111931400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:111926200-111933400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:111926200-111934400	Weak transcription	Adipose Nuclei	Adipose
26	chr2:111926400-111930200	Weak transcription	Thymus	Thymus
27	chr2:111926600-111928800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:111926600-111929000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:111926600-111929000	Weak transcription	Esophagus	oesophagus
30	chr2:111926600-111929000	Weak transcription	NHEK	skin
31	chr2:111927000-111928800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:111927000-111929000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:111927000-111929000	Weak transcription	HMEC	breast
34	chr2:111927000-111929400	Weak transcription	Stomach Mucosa	stomach
35	chr2:111927000-111931800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:111927000-111933600	Weak transcription	Left Ventricle	heart
37	chr2:111927200-111929000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:111927200-111929000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:111927200-111929000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:111927200-111929000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:111927200-111929000	Weak transcription	Gastric	stomach
42	chr2:111927200-111929000	Weak transcription	K562	blood
43	chr2:111927400-111928800	Weak transcription	A549	lung
44	chr2:111928000-111928400	Weak transcription	Fetal Intestine Small	intestine

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