Variant report

Variant	rs7080275
Chromosome Location	chr10:99089538-99089539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:99089459-99090357	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr10:99089440-99090291	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr10:99084388-99090304	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:99050239..99051953-chr10:99089208..99091250,2	K562	blood:

Variant related genes	Relation type
ENSG00000225850	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10736116	0.81[EUR][1000 genomes]
rs10748694	0.81[EUR][1000 genomes]
rs10786324	0.81[EUR][1000 genomes]
rs10786326	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10786327	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10786329	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10786330	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10786332	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10786333	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10786334	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10786335	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10882889	0.80[EUR][1000 genomes]
rs10882891	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10882894	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10882897	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10882898	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10882899	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189120	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11189122	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11189127	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11189131	0.90[EUR][1000 genomes]
rs11189132	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11189137	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189138	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12221430	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12413688	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12571098	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1334892	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1890966	0.95[ASN][1000 genomes]
rs3740512	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3781373	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4917766	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4919087	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4919089	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4919090	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4919091	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61863767	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6584116	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7067835	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7076523	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7078288	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7089634	0.82[EUR][1000 genomes]
rs7901853	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs945187	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs945189	0.83[EUR][1000 genomes];0.96[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	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045553	chr10:98944397-99122203	Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv540750	chr10:98944397-99122203	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831952	chr10:98998344-99145924	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv895914	chr10:99006083-99131676	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv825533	chr10:99070570-99115599	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv825534	chr10:99081505-99115599	Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99080600-99091200	Weak transcription	HMEC	breast
2	chr10:99080800-99089800	Weak transcription	Dnd41	blood
3	chr10:99081200-99091200	Weak transcription	Psoas Muscle	Psoas
4	chr10:99081200-99092600	Weak transcription	Aorta	Aorta
5	chr10:99081400-99089800	Weak transcription	Gastric	stomach
6	chr10:99081600-99091000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr10:99081600-99091600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr10:99081600-99091600	Weak transcription	Fetal Kidney	kidney
9	chr10:99081600-99091600	Weak transcription	HSMMtube	muscle
10	chr10:99081800-99091000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:99081800-99091000	Weak transcription	HUVEC	blood vessel
12	chr10:99081800-99091200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr10:99081800-99091200	Weak transcription	Small Intestine	intestine
14	chr10:99081800-99091200	Weak transcription	HSMM	muscle
15	chr10:99081800-99091800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:99081800-99092000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr10:99081800-99092600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:99082000-99089800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr10:99082000-99089800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr10:99082000-99091000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr10:99082000-99091000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr10:99082000-99091200	Weak transcription	Placenta	Placenta
23	chr10:99082200-99091200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:99082200-99091600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:99082400-99089800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr10:99082400-99090000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr10:99082400-99090800	Weak transcription	Fetal Brain Male	brain
28	chr10:99082400-99091200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:99083200-99091000	Weak transcription	Brain Substantia Nigra	brain
30	chr10:99084200-99091000	Enhancers	Stomach Mucosa	stomach
31	chr10:99084200-99091600	Weak transcription	Osteobl	bone
32	chr10:99085200-99091800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr10:99085600-99091200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr10:99085800-99091200	Weak transcription	Fetal Brain Female	brain
35	chr10:99086200-99090600	Weak transcription	Brain Germinal Matrix	brain
36	chr10:99086400-99090000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:99086800-99091200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr10:99086800-99091600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr10:99086800-99091800	Enhancers	Pancreas	Pancrea
40	chr10:99086800-99093200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
41	chr10:99087200-99090000	Genic enhancers	Primary monocytes fromperipheralblood	blood
42	chr10:99087200-99090000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr10:99087200-99091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr10:99087600-99091000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr10:99087600-99091800	Enhancers	Right Ventricle	heart
46	chr10:99087800-99089800	Strong transcription	Primary T cells from cord blood	blood
47	chr10:99087800-99089800	Strong transcription	Brain Anterior Caudate	brain
48	chr10:99087800-99090000	Strong transcription	Thymus	Thymus
49	chr10:99087800-99090200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:99087800-99090200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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