Variant report

Variant	rs12547619
Chromosome Location	chr8:49703662-49703663
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	chr8:49701574..49703321-chr8:49703503..49705202,2	MCF-7	breast:
2	chr8:49700836..49703744-chr8:49721219..49722863,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10090157	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10090819	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs10092718	0.85[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10097910	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs10101066	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10111821	0.94[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs1126259	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11785748	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12155607	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12542203	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12547015	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12547603	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12548278	0.94[JPT][hapmap]
rs12550270	0.85[ASN][1000 genomes]
rs13271216	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13276316	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs1482261	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs2384970	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2891648	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs35243529	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873084	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4873285	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4873287	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4873288	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55923266	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6472038	0.82[ASN][1000 genomes]
rs6984858	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6990865	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7835152	0.87[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs900238	0.80[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs9298058	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs966703	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49691200-49705400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:49698800-49704000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:49699000-49705600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr8:49699400-49705600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:49700600-49705200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:49701600-49704200	Weak transcription	Fetal Kidney	kidney
7	chr8:49701800-49703800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:49701800-49703800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:49701800-49703800	Weak transcription	Fetal Lung	lung
10	chr8:49701800-49704600	Weak transcription	Ovary	ovary
11	chr8:49701800-49704800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:49701800-49704800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:49701800-49705000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:49701800-49705400	Weak transcription	Left Ventricle	heart
15	chr8:49701800-49705600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:49702000-49704000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:49702000-49704200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:49702000-49705600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:49702200-49703800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:49702200-49705000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr8:49702200-49705200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:49702200-49705400	Weak transcription	HUVEC	blood vessel
23	chr8:49702400-49703800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:49702400-49704400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:49702400-49704600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:49703000-49703800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:49703000-49703800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:49703000-49704600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:49703000-49705400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:49703000-49716800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:49703400-49704000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr8:49703400-49704600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:49703400-49705600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:49703600-49704400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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