Variant report

Variant	rs73252892
Chromosome Location	chr10:43281435-43281436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43280780..43283548-chr10:43285550..43289909,6	K562	blood:
2	chr10:43276752..43278431-chr10:43279781..43281532,2	K562	blood:
3	chr10:43277103..43279687-chr10:43279795..43282779,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165733	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11817310	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11817745	0.82[AMR][1000 genomes]
rs1815717	0.87[EUR][1000 genomes]
rs1815719	0.87[EUR][1000 genomes]
rs2003025	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56169024	0.82[AMR][1000 genomes]
rs56270511	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57805551	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58182364	0.87[EUR][1000 genomes]
rs59335833	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60768705	0.82[AMR][1000 genomes]
rs7080394	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73251083	0.82[AMR][1000 genomes]
rs73251092	0.82[EUR][1000 genomes]
rs73251100	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73252884	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73252889	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73254226	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73256288	0.87[EUR][1000 genomes]
rs7921071	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv533331	chr10:42830221-43356410	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers 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 miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	esv2757381	chr10:43104068-43352995	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	esv34929	chr10:43116194-43329770	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv895076	chr10:43234432-43326627	Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1047838	chr10:43234590-43379219	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv947889	chr10:43278237-43290003	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43279000-43284400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:43279000-43288200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:43279000-43292000	Weak transcription	Stomach Mucosa	stomach
4	chr10:43279200-43292800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:43279400-43281800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr10:43279400-43292600	Weak transcription	Fetal Heart	heart
7	chr10:43279600-43282400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
8	chr10:43279800-43282000	Strong transcription	Brain Angular Gyrus	brain
9	chr10:43279800-43282200	Strong transcription	Fetal Intestine Small	intestine
10	chr10:43279800-43282400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:43279800-43282400	Strong transcription	Lung	lung
12	chr10:43279800-43282800	Strong transcription	Fetal Stomach	stomach
13	chr10:43279800-43283400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:43279800-43283400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr10:43279800-43283400	Strong transcription	NHEK	skin
16	chr10:43279800-43284200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:43279800-43284800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
18	chr10:43279800-43284800	Strong transcription	HepG2	liver
19	chr10:43279800-43299400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:43279800-43299600	Strong transcription	Fetal Muscle Leg	muscle
21	chr10:43279800-43299600	Strong transcription	Left Ventricle	heart
22	chr10:43279800-43299600	Strong transcription	K562	blood
23	chr10:43279800-43299800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:43279800-43300200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr10:43279800-43300600	Strong transcription	NH-A	brain
26	chr10:43279800-43302000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr10:43279800-43302600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr10:43279800-43303400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr10:43279800-43303400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr10:43279800-43303400	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr10:43279800-43303800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr10:43279800-43303800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr10:43279800-43305000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr10:43279800-43306200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr10:43279800-43306400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr10:43279800-43307600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr10:43279800-43307800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr10:43279800-43307800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr10:43279800-43308400	Strong transcription	Fetal Intestine Large	intestine
40	chr10:43279800-43308800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr10:43279800-43309000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr10:43279800-43324000	Strong transcription	Liver	Liver
43	chr10:43279800-43328200	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr10:43280000-43281800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr10:43280000-43281800	Strong transcription	Fetal Kidney	kidney
46	chr10:43280000-43282400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr10:43280000-43282400	Strong transcription	Thymus	Thymus
48	chr10:43280000-43282600	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr10:43280000-43283400	Strong transcription	Rectal Smooth Muscle	rectum
50	chr10:43280000-43284400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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