Variant report

Variant	rs2239248
Chromosome Location	chr14:72799920-72799921
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72785270..72787957-chr14:72798250..72801124,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10138180	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs1072167	0.84[EUR][1000 genomes]
rs1520331	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1520332	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1996662	0.91[CHB][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2090737	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2108361	0.83[EUR][1000 genomes]
rs2108362	0.83[EUR][1000 genomes]
rs2238199	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2239224	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs2239225	0.81[EUR][1000 genomes]
rs2239231	0.92[CEU][hapmap];0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2239233	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2239249	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2283390	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2332829	0.83[EUR][1000 genomes]
rs2332831	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs2529460	0.85[EUR][1000 genomes]
rs2529461	0.85[EUR][1000 genomes]
rs2529466	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs2681721	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2681728	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2681741	0.81[AMR][1000 genomes]
rs2681742	0.96[CEU][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2681743	0.81[AMR][1000 genomes]
rs2681744	0.81[AMR][1000 genomes]
rs2681745	0.81[AMR][1000 genomes]
rs2681754	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs2681761	0.96[CEU][hapmap]
rs2681765	0.85[EUR][1000 genomes]
rs4903013	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs6574067	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs6574068	0.83[EUR][1000 genomes]
rs6574070	0.83[EUR][1000 genomes]
rs6574071	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs7146606	0.81[EUR][1000 genomes]
rs7149872	0.83[EUR][1000 genomes]
rs8022289	0.83[EUR][1000 genomes]
rs847326	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs847327	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs847332	0.83[EUR][1000 genomes]
rs847333	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs847347	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847351	0.89[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs847352	0.89[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs847353	0.89[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs847354	0.89[CEU][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 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	chr14:72796400-72801000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72796600-72801400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:72797400-72801000	Enhancers	Fetal Stomach	stomach
4	chr14:72797400-72801400	Enhancers	Brain Germinal Matrix	brain
5	chr14:72797600-72800000	Enhancers	Fetal Muscle Leg	muscle
6	chr14:72797600-72804800	Enhancers	Fetal Lung	lung
7	chr14:72798200-72800800	Enhancers	Fetal Brain Female	brain
8	chr14:72798200-72801200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:72798200-72801400	Enhancers	Fetal Brain Male	brain
10	chr14:72798800-72800600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr14:72798800-72800600	Enhancers	Ovary	ovary
12	chr14:72798800-72800800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:72798800-72802200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:72799000-72801000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:72799000-72801800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr14:72799000-72802200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr14:72799200-72800000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:72799200-72800000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:72799200-72800000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:72799200-72800000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:72799200-72800200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr14:72799200-72802000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr14:72799200-72804200	Weak transcription	Spleen	Spleen
24	chr14:72799800-72800000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr14:72799800-72800600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr14:72799800-72800800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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