Variant report

Variant	rs7600213
Chromosome Location	chr2:58259867-58259868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58257859..58260468-chr2:58264282..58266737,2	MCF-7	breast:
2	chr2:58259305..58261530-chr2:58312995..58315728,2	MCF-7	breast:
3	chr2:58258986..58262667-chr2:58264897..58267784,3	K562	blood:
4	chr2:58258901..58260862-chr2:58271685..58273683,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10164499	0.81[ASW][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.85[AMR][1000 genomes]
rs10165760	0.92[AFR][1000 genomes]
rs10174202	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10176681	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10178025	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10182762	0.88[AFR][1000 genomes]
rs10187411	0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10191766	0.87[AMR][1000 genomes]
rs10201793	0.87[AMR][1000 genomes]
rs10203014	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1025755	0.89[AFR][1000 genomes]
rs10518852	1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[AMR][1000 genomes]
rs11883874	0.90[LWK][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes]
rs11891477	0.88[AFR][1000 genomes]
rs11892302	0.89[AFR][1000 genomes]
rs13382369	0.91[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13394820	0.94[AFR][1000 genomes]
rs13400997	0.87[AMR][1000 genomes]
rs13405281	0.92[AFR][1000 genomes]
rs13410500	0.90[YRI][hapmap];0.92[AFR][1000 genomes]
rs13419989	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13431271	0.91[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2165100	0.91[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs2165103	0.90[YRI][hapmap];0.89[AFR][1000 genomes]
rs28521626	0.94[AFR][1000 genomes]
rs4459722	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57112138	0.82[AFR][1000 genomes]
rs57597086	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58470176	0.92[AFR][1000 genomes]
rs6718190	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72949131	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949137	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949158	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951042	0.87[AFR][1000 genomes]
rs72951048	0.92[AFR][1000 genomes]
rs72951056	0.92[AFR][1000 genomes]
rs73944804	0.88[AFR][1000 genomes]
rs7563225	1.00[MEX][hapmap];0.96[MKK][hapmap];0.87[AMR][1000 genomes]
rs7563312	0.90[AFR][1000 genomes]
rs7569731	0.86[AFR][1000 genomes]
rs7574578	0.89[YRI][hapmap];0.87[AMR][1000 genomes]
rs7574694	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7590976	0.85[MKK][hapmap]
rs9973345	0.83[AFR][1000 genomes]
rs9973928	0.80[ASW][hapmap];0.90[LWK][hapmap];0.97[MKK][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834159	chr2:58101262-58283655	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv874200	chr2:58163178-58262016	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv999591	chr2:58214871-58316147	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr2:58251400-58272000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:58255600-58267600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:58256600-58271800	Weak transcription	Left Ventricle	heart
4	chr2:58256800-58272800	Weak transcription	Adipose Nuclei	Adipose
5	chr2:58256800-58273000	Weak transcription	Pancreas	Pancrea
6	chr2:58257800-58260000	Enhancers	NH-A	brain
7	chr2:58258200-58271800	Weak transcription	Brain Substantia Nigra	brain
8	chr2:58258400-58260800	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:58258400-58273000	Weak transcription	Liver	Liver
10	chr2:58258600-58272000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:58258800-58260200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:58258800-58260200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr2:58258800-58260400	Enhancers	Primary B cells from cord blood	blood
14	chr2:58258800-58273000	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:58259400-58269400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:58259600-58260000	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:58259600-58260000	Enhancers	Spleen	Spleen
18	chr2:58259600-58260200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:58259600-58260600	Flanking Active TSS	GM12878-XiMat	blood
20	chr2:58259800-58260000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:58259800-58260000	Enhancers	Brain Anterior Caudate	brain
22	chr2:58259800-58260000	Enhancers	Lung	lung
23	chr2:58259800-58260200	Enhancers	Psoas Muscle	Psoas
24	chr2:58259800-58260400	Strong transcription	Ovary	ovary
25	chr2:58259800-58260600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:58259800-58264200	Weak transcription	Primary hematopoietic stem cells	blood

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