Variant report

Variant	rs9483245
Chromosome Location	chr6:131616224-131616225
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	chr6:131614360..131616508-chr6:131705803..131707677,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10484765	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12203075	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13211569	0.80[EUR][1000 genomes]
rs1358962	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1407532	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1407533	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2104209	0.88[EUR][1000 genomes]
rs2146827	0.89[ASN][1000 genomes]
rs3777478	0.85[AMR][1000 genomes]
rs3777483	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3777494	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4327722	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4343939	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4897505	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61056763	0.93[EUR][1000 genomes]
rs6569737	0.97[EUR][1000 genomes]
rs6922252	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7744734	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7761587	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9483237	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9483239	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9483244	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9492886	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9492894	0.82[AMR][1000 genomes]
rs9800458	0.84[EUR][1000 genomes]
rs9800571	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer 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 miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv830808	chr6:131521115-131735320	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv886666	chr6:131573433-131666295	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 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	chr6:131612400-131616400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:131612800-131616600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:131613000-131616400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:131614800-131616400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:131614800-131619000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:131614800-131620000	Weak transcription	Spleen	Spleen
7	chr6:131614800-131624800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr6:131615000-131616400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr6:131615000-131617000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr6:131615000-131620600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr6:131615000-131622400	Weak transcription	Lung	lung
12	chr6:131615000-131623800	Weak transcription	Primary T cells from cord blood	blood
13	chr6:131615000-131624400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr6:131615000-131626200	Weak transcription	Fetal Muscle Leg	muscle
15	chr6:131615600-131616400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
16	chr6:131615600-131616400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
17	chr6:131615600-131616400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr6:131615600-131616600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:131615800-131616600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:131616000-131616400	Enhancers	Placenta	Placenta
21	chr6:131616200-131616400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:131616200-131616400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr6:131616200-131616400	Enhancers	Pancreas	Pancrea
24	chr6:131616200-131619200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr6:131616200-131619400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr6:131616200-131619800	Active TSS	HUES48 Cell Line	embryonic stem cell

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