Variant report

Variant	rs945187
Chromosome Location	chr10:99091369-99091370
allele	A/G
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	chr10:99091120-99091415	K562	blood:	n/a	n/a
2	POLR2A	chr10:99091156-99091479	K562	blood:	n/a	n/a
3	POLR2A	chr10:99091074-99091392	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr10:99090874-99091579	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr10:99090879-99092231	H1-hESC	embryonic stem cell:	n/a	n/a
6	HEY1	chr10:99091183-99091433	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:99089670..99092667-chr10:99113757..99116464,3	MCF-7	breast:
2	chr10:99090785..99094308-chr10:99157737..99162145,4	MCF-7	breast:
3	chr10:99091261..99093952-chr10:99104801..99106882,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225850	TF binding region
ENSG00000231970	Chromatin interaction
ENSG00000052749	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10736116	0.83[EUR][1000 genomes]
rs10748694	0.83[EUR][1000 genomes]
rs10786324	0.83[EUR][1000 genomes]
rs10786325	0.84[AMR][1000 genomes]
rs10786326	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10786327	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10786329	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10786330	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10786332	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10786333	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10786334	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10786335	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10882889	0.82[EUR][1000 genomes]
rs10882891	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10882894	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10882895	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10882897	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10882898	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10882899	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189120	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11189122	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11189127	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11189131	0.84[EUR][1000 genomes]
rs11189132	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11189137	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189138	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12221430	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12413688	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12571098	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1334892	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1890966	0.96[ASN][1000 genomes]
rs3740512	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3781373	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4917766	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4919087	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4919089	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4919090	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4919091	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61863767	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6584116	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7067835	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7076523	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7078288	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7080275	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7901853	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs945189	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99081200-99092600	Weak transcription	Aorta	Aorta
2	chr10:99081600-99091600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:99081600-99091600	Weak transcription	Fetal Kidney	kidney
4	chr10:99081600-99091600	Weak transcription	HSMMtube	muscle
5	chr10:99081800-99091800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr10:99081800-99092000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr10:99081800-99092600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:99082200-99091600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:99084200-99091600	Weak transcription	Osteobl	bone
10	chr10:99085200-99091800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:99086800-99091600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:99086800-99091800	Enhancers	Pancreas	Pancrea
13	chr10:99086800-99093200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
14	chr10:99087600-99091800	Enhancers	Right Ventricle	heart
15	chr10:99088000-99091800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:99088400-99091400	Enhancers	Right Atrium	heart
17	chr10:99088400-99093400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
18	chr10:99088600-99091600	Weak transcription	NHLF	lung
19	chr10:99089000-99091400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr10:99089000-99091600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr10:99089000-99091800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr10:99089000-99092400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr10:99089200-99091400	Weak transcription	Fetal Lung	lung
24	chr10:99089200-99091600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:99089200-99092400	Weak transcription	GM12878-XiMat	blood
26	chr10:99089400-99092000	Enhancers	Left Ventricle	heart
27	chr10:99089800-99091600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr10:99089800-99091800	Genic enhancers	Primary T cells fromperipheralblood	blood
29	chr10:99089800-99092200	Enhancers	Gastric	stomach
30	chr10:99090000-99091400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr10:99090000-99092000	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
32	chr10:99090000-99092400	Genic enhancers	Primary B cells from peripheral blood	blood
33	chr10:99090200-99091800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr10:99090400-99091400	Weak transcription	Fetal Stomach	stomach
35	chr10:99090600-99091600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr10:99090600-99092600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr10:99090800-99091400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:99090800-99091400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:99090800-99091400	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr10:99090800-99091600	Active TSS	Primary hematopoietic stem cells	blood
41	chr10:99090800-99091800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr10:99090800-99091800	Enhancers	Fetal Brain Male	brain
43	chr10:99090800-99091800	Enhancers	Fetal Heart	heart
44	chr10:99090800-99091800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr10:99090800-99092000	Enhancers	Spleen	Spleen
46	chr10:99090800-99092400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr10:99090800-99095000	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr10:99091000-99091400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr10:99091000-99091400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
50	chr10:99091000-99091400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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