Variant report

Variant	rs7258348
Chromosome Location	chr19:40047633-40047634
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40035928..40038134-chr19:40045282..40047956,2	K562	blood:

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

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

rs_ID	r²[population]
rs12608773	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12609985	0.95[CEU][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes]
rs12610740	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12610751	0.95[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12610833	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12611125	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12972285	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12972675	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12973775	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12978311	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12980249	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1368469	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17641650	0.95[CEU][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs17795475	0.95[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1836011	0.95[CEU][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs34126123	0.86[EUR][1000 genomes]
rs34271968	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs34355544	0.85[EUR][1000 genomes]
rs34856311	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34885802	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35038530	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35939822	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3746086	0.83[ASN][1000 genomes]
rs4608447	0.81[EUR][1000 genomes]
rs4803258	0.90[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4803259	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55994613	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59485553	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60587381	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67832846	0.86[EUR][1000 genomes]
rs7247184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7247218	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7257553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7257904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7507648	0.82[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	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv579509	chr19:40004640-40133438	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv34120	chr19:40044635-40131820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40031200-40049600	Weak transcription	Right Atrium	heart
2	chr19:40038600-40048000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr19:40041200-40048200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:40043000-40048200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr19:40043200-40048000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr19:40043600-40048200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr19:40044000-40048200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:40044200-40048400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:40044200-40049600	Weak transcription	Spleen	Spleen
10	chr19:40045800-40048000	Weak transcription	Stomach Mucosa	stomach
11	chr19:40046200-40050800	Enhancers	Placenta	Placenta
12	chr19:40047000-40048400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr19:40047200-40048200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr19:40047400-40047800	Weak transcription	GM12878-XiMat	blood
15	chr19:40047400-40048800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr19:40047600-40050000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr19:40047600-40050000	Enhancers	Monocytes-CD14+_RO01746	blood

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