Variant report

Variant	rs12675865
Chromosome Location	chr8:131051388-131051389
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130924171..130926476-chr8:131049925..131052466,2	K562	blood:
2	chr8:131027692..131029590-chr8:131050747..131052375,2	K562	blood:

Variant related genes	Relation type
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10956513	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs11781752	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs12542570	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12542879	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12546088	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs12546603	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs12547073	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12549633	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12675390	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs12676836	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs12681954	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs12681955	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs1467048	0.90[CEU][hapmap]
rs1469286	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs16904190	0.95[CHB][hapmap]
rs16904196	1.00[YRI][hapmap]
rs16904197	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs16904199	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs16904204	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs16904212	0.84[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs16904219	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs1902015	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2045091	1.00[CEU][hapmap]
rs2305511	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2395989	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs34816799	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35118291	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3812476	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs3997631	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075727	0.80[ASN][1000 genomes]
rs4236749	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs4461944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733569	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs4733760	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733761	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58187828	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59901146	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62524599	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62524600	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62524601	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62524602	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6991714	0.82[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs6996106	1.00[YRI][hapmap]
rs7006336	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs716077	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs72720386	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72720388	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7462286	0.91[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
12	esv1799633	chr8:131039142-131078918	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
13	esv1851852	chr8:131039142-131078918	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
14	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131041400-131068600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:131043000-131058200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:131046000-131054400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:131046200-131053800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:131046600-131053800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:131047800-131053200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:131049400-131053800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:131049800-131053200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:131049800-131053400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:131050000-131053200	Weak transcription	A549	lung
11	chr8:131050000-131054000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:131050000-131054400	Weak transcription	Thymus	Thymus
13	chr8:131050200-131053200	Weak transcription	Hela-S3	cervix
14	chr8:131050200-131053200	Weak transcription	NHEK	skin
15	chr8:131050200-131053800	Weak transcription	HMEC	breast
16	chr8:131050600-131053200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:131050600-131053200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:131050600-131054200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:131050800-131054400	Weak transcription	Colonic Mucosa	Colon
20	chr8:131051200-131051800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:131051200-131051800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:131051200-131051800	ZNF genes & repeats	Aorta	Aorta
23	chr8:131051200-131054400	Weak transcription	Right Atrium	heart

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