Variant report

Variant	rs7080394
Chromosome Location	chr10:43310613-43310614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11817310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1815717	0.87[EUR][1000 genomes]
rs1815719	0.87[EUR][1000 genomes]
rs2003025	0.82[EUR][1000 genomes]
rs56270511	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57805551	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58182364	0.87[EUR][1000 genomes]
rs59335833	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73251092	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73251100	0.82[EUR][1000 genomes]
rs73252884	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73252889	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73252892	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73254226	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73256288	0.87[EUR][1000 genomes]
rs7921071	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	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	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
14	nsv947891	chr10:43299039-43319274	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv14695	chr10:43301539-43355457	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43279800-43324000	Strong transcription	Liver	Liver
2	chr10:43279800-43328200	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr10:43280000-43310800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr10:43293200-43332400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr10:43294400-43311800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:43294600-43322800	Weak transcription	Stomach Mucosa	stomach
7	chr10:43295600-43311800	Weak transcription	Pancreas	Pancrea
8	chr10:43296800-43311800	Weak transcription	Colonic Mucosa	Colon
9	chr10:43298800-43313000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr10:43299600-43318600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr10:43299800-43312400	Weak transcription	HSMMtube	muscle
12	chr10:43299800-43313000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr10:43300000-43312800	Weak transcription	Fetal Brain Male	brain
14	chr10:43300000-43318000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr10:43301600-43323000	Weak transcription	HMEC	breast
16	chr10:43301800-43318000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr10:43301800-43325800	Weak transcription	NHLF	lung
18	chr10:43302000-43311400	Weak transcription	HepG2	liver
19	chr10:43302600-43312800	Weak transcription	Fetal Kidney	kidney
20	chr10:43302800-43313000	Weak transcription	Brain Hippocampus Middle	brain
21	chr10:43303000-43317800	Weak transcription	NH-A	brain
22	chr10:43303200-43311800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr10:43303200-43311800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr10:43303200-43313000	Weak transcription	Brain Substantia Nigra	brain
25	chr10:43303200-43313200	Weak transcription	Right Ventricle	heart
26	chr10:43303200-43322200	Weak transcription	Psoas Muscle	Psoas
27	chr10:43303400-43312400	Weak transcription	Left Ventricle	heart
28	chr10:43303400-43313000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr10:43303400-43313000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr10:43303600-43311800	Weak transcription	Osteobl	bone
31	chr10:43303600-43325800	Weak transcription	Colon Smooth Muscle	Colon
32	chr10:43303600-43332200	Weak transcription	NHDF-Ad	bronchial
33	chr10:43303800-43314000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr10:43304600-43323000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr10:43305800-43311800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr10:43305800-43313000	Weak transcription	Brain Anterior Caudate	brain
37	chr10:43306200-43311800	Weak transcription	HUVEC	blood vessel
38	chr10:43306400-43311800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr10:43306400-43311800	Weak transcription	Hela-S3	cervix
40	chr10:43306400-43312400	Weak transcription	Placenta	Placenta
41	chr10:43306400-43320000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:43306800-43311800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr10:43308200-43311200	Weak transcription	Adipose Nuclei	Adipose
44	chr10:43308200-43311400	Weak transcription	Spleen	Spleen
45	chr10:43308200-43311600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:43308200-43311800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr10:43308200-43311800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr10:43308200-43311800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr10:43308200-43311800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr10:43308200-43312000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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