Variant report

Variant	rs9470917
Chromosome Location	chr6:38668065-38668066
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38656860..38659853-chr6:38666153..38668324,2	MCF-7	breast:
2	chr6:38606456..38608908-chr6:38667468..38670067,2	MCF-7	breast:
3	chr6:38654394..38655965-chr6:38667989..38670845,2	MCF-7	breast:
4	chr6:38626742..38628981-chr6:38666689..38669446,2	K562	blood:

Variant related genes	Relation type
ENSG00000183826	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10947757	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1130534	0.97[ASN][1000 genomes]
rs1579028	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1621483	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3799703	0.92[JPT][hapmap]
rs4711553	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs4711556	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4714173	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs4714174	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs57156564	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58749921	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59793635	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60262339	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6925790	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs6931745	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6932648	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[ASN][1000 genomes]
rs7767791	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7774234	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7775968	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs9296255	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs9366969	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs9369073	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs9369075	0.97[ASN][1000 genomes]
rs937662	0.93[JPT][hapmap]
rs9380763	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs9394516	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs9394519	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs9394522	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9394523	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9394524	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9462446	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs9462448	0.93[JPT][hapmap]
rs9462451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462453	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9470901	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs9470902	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs9470913	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9470916	0.93[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9470918	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2758049	chr6:38588969-38711085	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv2759421	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv427754	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv428144	chr6:38588969-38711085	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv830642	chr6:38645056-38800657	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38641200-38670000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:38642800-38669800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:38646000-38670000	Weak transcription	A549	lung
4	chr6:38646800-38668200	Weak transcription	Primary T cells from cord blood	blood
5	chr6:38648800-38669800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:38651200-38669800	Weak transcription	HSMM	muscle
7	chr6:38651200-38670000	Weak transcription	Fetal Kidney	kidney
8	chr6:38651400-38669400	Weak transcription	Osteobl	bone
9	chr6:38653000-38670000	Weak transcription	NHDF-Ad	bronchial
10	chr6:38653600-38669400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:38654400-38669800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:38654600-38669400	Weak transcription	Hela-S3	cervix
13	chr6:38655200-38669800	Weak transcription	Pancreas	Pancrea
14	chr6:38655200-38670000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:38657000-38669400	Weak transcription	Thymus	Thymus
16	chr6:38657000-38669800	Weak transcription	Colonic Mucosa	Colon
17	chr6:38657000-38669800	Weak transcription	Lung	lung
18	chr6:38657000-38670000	Weak transcription	Left Ventricle	heart
19	chr6:38657000-38670000	Weak transcription	Psoas Muscle	Psoas
20	chr6:38657200-38668200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr6:38657600-38669600	Weak transcription	Fetal Brain Male	brain
22	chr6:38660800-38668200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:38663600-38670200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:38665200-38669800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr6:38665200-38670000	Weak transcription	Right Atrium	heart
26	chr6:38665400-38669400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:38665600-38668200	Weak transcription	HMEC	breast
28	chr6:38665600-38669600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr6:38666000-38669400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:38666600-38668400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:38666600-38668600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:38666600-38669600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:38666600-38669800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:38666600-38670000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:38666800-38668400	ZNF genes & repeats	Fetal Muscle Leg	muscle
36	chr6:38666800-38669400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:38666800-38670000	Weak transcription	Brain Angular Gyrus	brain
38	chr6:38667000-38670000	Weak transcription	Small Intestine	intestine
39	chr6:38667400-38668400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:38667400-38669000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:38667400-38669200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:38667400-38670000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr6:38667800-38668200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:38667800-38668400	ZNF genes & repeats	Fetal Thymus	thymus
45	chr6:38667800-38668800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:38667800-38669000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:38667800-38669200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
48	chr6:38667800-38669600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:38668000-38668200	ZNF genes & repeats	Primary B cells from cord blood	blood
50	chr6:38668000-38668200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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