Variant report

Variant	rs848108
Chromosome Location	chr14:37237129-37237130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:37225583..37228610-chr14:37234821..37238583,4	MCF-7	breast:
2	chr14:37237060..37238683-chr14:37243797..37246601,2	K562	blood:
3	chr14:37236787..37238777-chr14:37239104..37242247,3	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10134198	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10134532	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10134535	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1325533	1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.82[ASN][1000 genomes]
rs1325534	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1325535	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1325537	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1739611	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1739613	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1749926	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1749927	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1749928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1749929	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1749944	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.85[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1749945	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1853812	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2764953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2764954	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2764958	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2774037	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2774038	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2774039	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs712324	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs712328	1.00[ASW][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs712333	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs73264788	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs848090	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs848093	1.00[ASW][hapmap];0.91[CEU][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs848094	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap]
rs848095	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs848096	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs848098	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs848099	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs848100	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs848101	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs848102	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs848103	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs848104	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs848105	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs848109	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848110	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs848111	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs848113	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs848114	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs848115	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs848116	0.81[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs848118	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs848119	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs848122	0.93[CHB][hapmap];0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs848108	RP11-81F13.2	cis	Esophagus Mucosa	GTEx
rs848108	RP11-81F13.1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37234600-37238000	Weak transcription	Esophagus	oesophagus
2	chr14:37235000-37238400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr14:37235400-37238400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:37236000-37237800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:37236400-37237800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:37236400-37238000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:37236400-37238000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:37236400-37238000	Enhancers	HMEC	breast
9	chr14:37236400-37238400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr14:37236600-37237200	Enhancers	NH-A	brain
11	chr14:37236600-37238000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr14:37236600-37238000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr14:37236600-37238200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr14:37236600-37238200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:37236600-37238400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr14:37236600-37238400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr14:37236600-37238400	Enhancers	K562	blood
18	chr14:37236800-37237400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr14:37236800-37237400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:37236800-37237400	Bivalent Enhancer	Fetal Heart	heart
21	chr14:37236800-37237400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr14:37236800-37237600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr14:37236800-37237600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:37236800-37237800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:37236800-37237800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:37236800-37238000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr14:37236800-37238400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr14:37237000-37237400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:37237000-37237400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:37237000-37237400	Enhancers	Fetal Muscle Leg	muscle
31	chr14:37237000-37237600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:37237000-37237600	Flanking Active TSS	NHEK	skin

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