Variant report

Variant	rs12486205
Chromosome Location	chr3:43292852-43292853
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	chr3:43287138..43289386-chr3:43291194..43294036,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1034513	1.00[EUR][1000 genomes]
rs10514709	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12631509	0.84[AMR][1000 genomes]
rs1318453	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1320160	0.85[ASN][1000 genomes]
rs1320161	0.85[ASN][1000 genomes]
rs1320162	0.85[ASN][1000 genomes]
rs1320163	0.85[ASN][1000 genomes]
rs17075328	0.80[ASN][1000 genomes]
rs17075340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17075375	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17075379	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17075391	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17075395	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17075409	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17075517	1.00[EUR][1000 genomes]
rs17075521	1.00[EUR][1000 genomes]
rs1878721	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1996497	0.85[ASN][1000 genomes]
rs2174636	0.82[AMR][1000 genomes]
rs2372360	0.88[ASN][1000 genomes]
rs2372367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4580522	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6772070	0.82[AMR][1000 genomes]
rs6791526	0.91[ASN][1000 genomes]
rs6796424	0.91[ASN][1000 genomes]
rs6798292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6800990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72863603	0.82[AMR][1000 genomes]
rs73086702	0.91[ASN][1000 genomes]
rs73088703	0.91[ASN][1000 genomes]
rs7634209	0.91[ASN][1000 genomes]
rs7646966	0.88[ASN][1000 genomes]
rs7647227	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs938918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2752008	chr3:43285369-43360879	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1009102	chr3:43285369-43369712	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43284400-43300400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:43285800-43298400	Weak transcription	Left Ventricle	heart
3	chr3:43288600-43293000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:43289400-43293000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:43289800-43296400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr3:43289800-43297400	Weak transcription	Primary B cells from cord blood	blood
7	chr3:43290000-43294200	Weak transcription	Fetal Stomach	stomach
8	chr3:43290000-43296400	Weak transcription	Lung	lung
9	chr3:43290400-43293000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:43290400-43293800	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:43290400-43294800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr3:43290400-43299400	Weak transcription	Right Atrium	heart
13	chr3:43290800-43294000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:43290800-43296600	Weak transcription	Spleen	Spleen
15	chr3:43290800-43300800	Weak transcription	Brain Anterior Caudate	brain
16	chr3:43292600-43293400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr3:43292800-43293000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:43292800-43293200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:43292800-43293200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr3:43292800-43293200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:43292800-43293200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr3:43292800-43293400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr3:43292800-43293400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:43292800-43293400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:43292800-43293400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr3:43292800-43293400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr3:43292800-43293400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:43292800-43293600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:43292800-43294200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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