Variant report

Variant	rs2128186
Chromosome Location	chr4:86599597-86599598
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:86599190..86601552-chr4:86603029..86605951,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10006148	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10012334	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10013681	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10015638	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097065	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1161262	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1161263	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1161264	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12108444	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506524	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12640073	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13150577	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1384133	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1384138	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1482087	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1482090	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1564560	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960869	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960870	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062099	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2128187	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220007	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2623767	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2623768	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2623769	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2623770	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869362	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869375	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869376	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3971934	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4453927	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693119	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4693713	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4693714	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693715	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693717	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693721	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693722	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5020451	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6531845	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531848	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812150	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813895	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814897	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835362	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6836392	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7442322	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7659481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7680209	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7685465	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7685535	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695033	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs992553	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9999652	0.93[EUR][1000 genomes];1.00[ASN][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	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv829999	chr4:86500257-86666019	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86589000-86601600	Weak transcription	HSMMtube	muscle
2	chr4:86590000-86604600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr4:86591400-86619400	Weak transcription	Pancreas	Pancrea
4	chr4:86594400-86601400	Weak transcription	Spleen	Spleen
5	chr4:86594400-86601600	Weak transcription	HSMM	muscle
6	chr4:86594600-86600000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:86595000-86600000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr4:86595200-86600000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr4:86596600-86601600	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:86597200-86600600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:86597200-86602400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:86597200-86603600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:86597400-86599600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:86597400-86609000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:86597800-86600600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:86598000-86599800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:86598000-86600000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:86598000-86600200	Enhancers	NHDF-Ad	bronchial
19	chr4:86598200-86602800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:86598200-86603400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:86598400-86603000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:86598800-86599600	Weak transcription	Brain Substantia Nigra	brain
23	chr4:86598800-86602200	Weak transcription	Brain Anterior Caudate	brain
24	chr4:86598800-86602400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:86598800-86602400	Weak transcription	Fetal Stomach	stomach
26	chr4:86599200-86599800	Weak transcription	Primary B cells from cord blood	blood
27	chr4:86599200-86600200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:86599200-86602200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:86599200-86602200	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:86599200-86603400	Enhancers	Primary B cells from peripheral blood	blood
31	chr4:86599400-86602200	Weak transcription	K562	blood
32	chr4:86599400-86602600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:86599400-86603400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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