Variant report

Variant	rs2571038
Chromosome Location	chr4:96135553-96135554
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	chr4:96124156..96126262-chr4:96134196..96136311,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10856911	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11944846	0.85[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.88[ASN][1000 genomes]
rs12513212	0.81[CEU][hapmap];0.84[CHB][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13118653	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs1434534	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023311	0.85[CEU][hapmap]
rs2276322	1.00[MEX][hapmap]
rs2571037	0.89[ASW][hapmap];0.88[CEU][hapmap];0.87[CHD][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2621449	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2621450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2621451	0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs2865383	0.88[CEU][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2865384	0.94[CHB][hapmap];0.97[CHD][hapmap];0.87[MEX][hapmap];0.84[ASN][1000 genomes]
rs34656389	0.83[ASN][1000 genomes]
rs3775002	0.83[GIH][hapmap]
rs3775043	0.92[MEX][hapmap]
rs3775046	0.83[MEX][hapmap]
rs3775051	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4419475	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4699412	0.80[GIH][hapmap]
rs4699414	0.88[CEU][hapmap]
rs4699415	0.80[CEU][hapmap]
rs4699837	0.88[CEU][hapmap];0.85[GIH][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs59785524	0.83[ASN][1000 genomes]
rs62319060	0.88[ASN][1000 genomes]
rs7434638	0.82[CEU][hapmap];0.80[GIH][hapmap]
rs7661876	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7676599	0.84[CHB][hapmap];0.82[ASN][1000 genomes]
rs7693043	0.81[ASN][1000 genomes]
rs9307155	0.88[ASN][1000 genomes]
rs9637615	0.81[CEU][hapmap];0.87[TSI][hapmap]
rs995062	0.96[CEU][hapmap];0.86[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.92[TSI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][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	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
2	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
3	nsv879623	chr4:96123466-96168719	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	2 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	chr4:96100000-96143000	Weak transcription	Fetal Kidney	kidney
2	chr4:96126000-96137000	Weak transcription	Ovary	ovary
3	chr4:96133400-96135800	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr4:96133800-96135600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:96133800-96136200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:96133800-96136800	Enhancers	Brain Substantia Nigra	brain
7	chr4:96134200-96136600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr4:96134200-96136800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr4:96134400-96136600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr4:96134400-96142600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:96134600-96135800	Enhancers	Fetal Lung	lung
12	chr4:96134600-96138200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:96134600-96138600	Enhancers	K562	blood
14	chr4:96134600-96176800	Weak transcription	Fetal Stomach	stomach
15	chr4:96134800-96137000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:96134800-96137600	Enhancers	Brain Germinal Matrix	brain
17	chr4:96134800-96137800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:96134800-96138000	Weak transcription	Aorta	Aorta
19	chr4:96134800-96140200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:96134800-96147000	Weak transcription	Brain Anterior Caudate	brain
21	chr4:96135000-96135800	Enhancers	Brain Angular Gyrus	brain
22	chr4:96135000-96135800	Enhancers	Brain Cingulate Gyrus	brain
23	chr4:96135000-96135800	Enhancers	Brain Hippocampus Middle	brain
24	chr4:96135000-96136400	Weak transcription	Fetal Brain Male	brain
25	chr4:96135000-96137000	Weak transcription	HSMMtube	muscle
26	chr4:96135200-96146800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr4:96135400-96135600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:96135400-96136000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr4:96135400-96138400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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