Variant report

Variant	rs1008327
Chromosome Location	chr4:110565877-110565878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11728573	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11734973	0.89[ASN][1000 genomes]
rs11938222	0.81[JPT][hapmap]
rs12513113	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13128388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13846	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs149800	0.81[JPT][hapmap]
rs1543812	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17440077	0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2158204	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2346835	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28515508	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4698770	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4698775	0.88[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62326057	0.90[ASN][1000 genomes]
rs62326058	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62327660	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6533442	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6533446	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6824270	0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6824542	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6858416	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72674829	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7658262	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7690921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers 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 miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110533000-110573000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:110546200-110566400	Weak transcription	Fetal Thymus	thymus
3	chr4:110546600-110580600	Weak transcription	Thymus	Thymus
4	chr4:110550600-110569200	Weak transcription	GM12878-XiMat	blood
5	chr4:110553200-110566200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:110553200-110566800	Weak transcription	Primary B cells from cord blood	blood
7	chr4:110559600-110566600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr4:110561200-110566800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr4:110561400-110566800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr4:110561800-110566200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:110562200-110567200	Weak transcription	Stomach Mucosa	stomach
12	chr4:110562400-110569000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr4:110562800-110569400	Enhancers	Primary T cells from cord blood	blood
14	chr4:110563200-110567000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:110563600-110566800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:110563600-110567000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:110564800-110566600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr4:110564800-110568800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr4:110564800-110569400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr4:110565000-110569400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:110565200-110569400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr4:110565600-110566600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:110565600-110569400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr4:110565800-110576600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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