Variant report

Variant	rs10046784
Chromosome Location	chr8:8735213-8735214
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8728731..8732330-chr8:8733587..8735622,3	K562	blood:
2	chr8:8733314..8736061-chr8:8749397..8752157,3	MCF-7	breast:
3	chr8:8733559..8735231-chr8:8736317..8738826,2	MCF-7	breast:
4	chr8:8733670..8736303-chr8:8745304..8747711,2	K562	blood:

Variant related genes	Relation type
ENSG00000147324	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10046783	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];1.00[ASN][1000 genomes]
rs1039913	0.83[ASN][1000 genomes]
rs1039914	0.83[ASN][1000 genomes]
rs1039916	0.81[CHB][hapmap]
rs10903311	0.89[CHB][hapmap]
rs11779585	0.83[ASN][1000 genomes]
rs11995244	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs12679021	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1510932	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs1510933	1.00[JPT][hapmap]
rs1876836	0.90[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2009455	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2271340	0.89[CHB][hapmap]
rs2271341	0.89[CHB][hapmap]
rs231188	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2409088	0.89[CHB][hapmap]
rs2409089	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs2409090	0.89[CHB][hapmap]
rs2409095	1.00[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs28755903	0.83[ASN][1000 genomes]
rs3748144	0.89[CHB][hapmap];0.88[CHD][hapmap]
rs3827809	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4840364	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4841038	0.89[CHB][hapmap]
rs4841041	0.88[CHB][hapmap]
rs4841049	0.83[ASN][1000 genomes]
rs4841050	0.83[ASN][1000 genomes]
rs4841051	0.81[CHB][hapmap]
rs4841055	0.81[CHB][hapmap]
rs4841058	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs565169	0.89[CHB][hapmap]
rs7824578	1.00[ASN][1000 genomes]
rs7837620	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs907179	0.81[ASN][1000 genomes]
rs9329169	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
11	esv2757257	chr8:8707639-8747894	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv2759591	chr8:8707639-8747894	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv818595	chr8:8712895-8752684	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv1030977	chr8:8725992-8739514	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1026305	chr8:8726128-8739514	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10046784	DEFA1	trans	brain	seeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8718400-8742200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:8726800-8737600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:8726800-8737600	Weak transcription	NHEK	skin
4	chr8:8730400-8742400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:8730600-8735400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:8730600-8737600	Weak transcription	Lung	lung
7	chr8:8730600-8738000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:8730600-8738800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:8730600-8738800	Weak transcription	GM12878-XiMat	blood
10	chr8:8730600-8742000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:8730600-8742000	Weak transcription	K562	blood
12	chr8:8730800-8736200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr8:8730800-8737600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:8730800-8737600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:8730800-8737600	Weak transcription	Right Atrium	heart
16	chr8:8730800-8738400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:8730800-8742600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:8730800-8747600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:8731000-8735400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:8731000-8742000	Weak transcription	Fetal Heart	heart
21	chr8:8731000-8742200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:8731000-8745200	Weak transcription	HUVEC	blood vessel
23	chr8:8731000-8745600	Weak transcription	Primary B cells from cord blood	blood
24	chr8:8731200-8737800	Weak transcription	NHLF	lung
25	chr8:8731400-8736800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:8731400-8745400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:8731600-8737800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:8731800-8741800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:8732000-8741800	Weak transcription	Brain Germinal Matrix	brain
30	chr8:8732200-8738600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:8732600-8737600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:8732600-8745600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:8732800-8735400	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:8732800-8736800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:8732800-8737400	Weak transcription	Primary T cells from cord blood	blood
36	chr8:8732800-8737600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:8732800-8739400	Weak transcription	Fetal Lung	lung
38	chr8:8732800-8741800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:8732800-8742600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:8733000-8735800	Enhancers	Primary T cells fromperipheralblood	blood
41	chr8:8733200-8735400	Weak transcription	HepG2	liver
42	chr8:8733200-8737000	Weak transcription	Osteobl	bone
43	chr8:8733200-8737200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:8733200-8737800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:8733200-8742000	Weak transcription	Liver	Liver
46	chr8:8733400-8737800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr8:8733600-8735800	Enhancers	Small Intestine	intestine
48	chr8:8733600-8736000	Genic enhancers	Fetal Thymus	thymus
49	chr8:8733600-8737600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr8:8733600-8739800	Genic enhancers	Dnd41	blood

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