Variant report

Variant	rs2289043
Chromosome Location	chr4:96106322-96106323
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	chr4:96104964..96107220-chr4:96113230..96116059,2	K562	blood:
2	chr4:96103609..96107002-chr4:96107202..96110546,3	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10026552	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10155123	0.92[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs10155222	1.00[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10212627	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs13132800	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1369085	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs1434535	0.80[AFR][1000 genomes]
rs1434539	0.84[MKK][hapmap]
rs1863654	0.84[AFR][1000 genomes]
rs1991946	0.86[CEU][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2162450	0.80[AFR][1000 genomes]
rs2241744	1.00[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs3755879	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3755880	0.82[CEU][hapmap];0.82[CHD][hapmap];0.84[GIH][hapmap];0.84[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3775042	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs3775057	0.90[CEU][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3796460	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3796461	0.82[CEU][hapmap];0.84[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3796462	0.95[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3796463	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs3796464	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3857227	0.93[AFR][1000 genomes]
rs3857228	0.93[AFR][1000 genomes]
rs767824	0.95[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96084600-96111800	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:96087600-96107000	Weak transcription	A549	lung
3	chr4:96091000-96111600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:96091400-96109400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:96098000-96127000	Weak transcription	Right Atrium	heart
6	chr4:96099400-96109400	Weak transcription	Dnd41	blood
7	chr4:96100000-96143000	Weak transcription	Fetal Kidney	kidney
8	chr4:96101600-96106600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:96102800-96107600	Weak transcription	Brain Germinal Matrix	brain
10	chr4:96102800-96107800	Weak transcription	Spleen	Spleen
11	chr4:96102800-96110000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:96103000-96108000	Weak transcription	Ovary	ovary
13	chr4:96103000-96111600	Weak transcription	Fetal Brain Male	brain
14	chr4:96103200-96111200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:96103400-96108000	Weak transcription	K562	blood
16	chr4:96103400-96109400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr4:96103400-96109800	Weak transcription	Brain Hippocampus Middle	brain
18	chr4:96103600-96123000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:96104200-96108600	Weak transcription	Fetal Thymus	thymus
20	chr4:96104400-96106600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:96104400-96108000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:96104400-96109400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:96104400-96115000	Weak transcription	Aorta	Aorta
24	chr4:96104800-96107400	Weak transcription	Fetal Stomach	stomach
25	chr4:96104800-96107800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:96104800-96108000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:96105600-96108000	Weak transcription	Brain Substantia Nigra	brain
28	chr4:96105600-96111600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:96105600-96111800	Weak transcription	Brain Anterior Caudate	brain
30	chr4:96105800-96107600	Weak transcription	Fetal Lung	lung
31	chr4:96105800-96111800	Weak transcription	Brain Angular Gyrus	brain
32	chr4:96105800-96123200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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