Variant report

Variant	rs4234427
Chromosome Location	chr3:43293269-43293270
allele	A/G
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: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10212591	0.80[AFR][1000 genomes]
rs11129997	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11129998	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1120779	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11713302	1.00[AMR][1000 genomes]
rs12632805	0.90[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1320157	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1320159	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1472807	1.00[AMR][1000 genomes]
rs1506618	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs1996496	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2036616	0.81[AFR][1000 genomes]
rs2135510	1.00[AMR][1000 genomes]
rs2372353	1.00[AMR][1000 genomes]
rs2372357	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2372358	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2372359	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2888311	0.90[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4234466	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4339089	1.00[AMR][1000 genomes]
rs4346523	1.00[AMR][1000 genomes]
rs4405884	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4420837	1.00[AMR][1000 genomes]
rs4425230	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4470482	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4569634	1.00[AMR][1000 genomes]
rs4618196	1.00[AMR][1000 genomes]
rs4642093	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682673	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682674	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682681	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682684	1.00[AMR][1000 genomes]
rs4682884	1.00[AMR][1000 genomes]
rs4682889	1.00[AMR][1000 genomes]
rs4683365	0.90[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4683368	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6441771	0.81[AFR][1000 genomes]
rs6442145	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6765835	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6766825	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6767741	1.00[AMR][1000 genomes]
rs6775392	1.00[AMR][1000 genomes]
rs6784075	1.00[AMR][1000 genomes]
rs6791682	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6793755	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7616072	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7636644	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7648023	1.00[AMR][1000 genomes]
rs7651091	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs906156	1.00[AMR][1000 genomes]
rs906157	1.00[AMR][1000 genomes]
rs906158	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs937827	1.00[AMR][1000 genomes]
rs9755005	1.00[AMR][1000 genomes]
rs984345	1.00[AMR][1000 genomes]
rs9859465	0.81[AFR][1000 genomes];1.00[AMR][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:26 , 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	chr3:43289800-43296400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:43289800-43297400	Weak transcription	Primary B cells from cord blood	blood
5	chr3:43290000-43294200	Weak transcription	Fetal Stomach	stomach
6	chr3:43290000-43296400	Weak transcription	Lung	lung
7	chr3:43290400-43293800	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:43290400-43294800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr3:43290400-43299400	Weak transcription	Right Atrium	heart
10	chr3:43290800-43294000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr3:43290800-43296600	Weak transcription	Spleen	Spleen
12	chr3:43290800-43300800	Weak transcription	Brain Anterior Caudate	brain
13	chr3:43292600-43293400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:43292800-43293400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr3:43292800-43293400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:43292800-43293400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:43292800-43293400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr3:43292800-43293400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr3:43292800-43293400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:43292800-43293600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:43292800-43294200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:43293000-43293400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr3:43293000-43293400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:43293000-43294000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:43293200-43293400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:43293200-43293600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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