Variant report

Variant	rs58713638
Chromosome Location	chr10:99089959-99089960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:99089791-99090300	HepG2	liver:	n/a	n/a
2	POLR2A	chr10:99089710-99090185	K562	blood:	n/a	n/a
3	POLR2A	chr10:99089945-99090240	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr10:99089612-99090108	K562	blood:	n/a	n/a
5	ZC3H11A	chr10:99089899-99090148	K562	blood:	n/a	n/a
6	POLR2A	chr10:99089595-99090432	HL-60	blood:	n/a	n/a
7	POLR2A	chr10:99089673-99090306	K562	blood:	n/a	n/a
8	POLR2A	chr10:99089840-99090216	A549	lung:	n/a	n/a
9	CTCF	chr10:99089840-99089990	GM12873	blood:	n/a	n/a
10	POLR2A	chr10:99089764-99090260	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr10:99089644-99090278	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr10:99089815-99090399	K562	blood:	n/a	n/a
13	POLR2A	chr10:99089761-99090468	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr10:99089677-99090260	K562	blood:	n/a	n/a
15	POLR2A	chr10:99089672-99090363	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr10:99089459-99090357	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr10:99089440-99090291	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr10:99084388-99090304	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr10:99089890-99090195	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr10:99089728-99090229	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:99089670..99092667-chr10:99113757..99116464,3	MCF-7	breast:
2	chr10:99050239..99051953-chr10:99089208..99091250,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225850	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11591500	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593801	0.82[AFR][1000 genomes]
rs11593813	0.82[AFR][1000 genomes]
rs11593853	0.82[AFR][1000 genomes]
rs57654738	0.81[AFR][1000 genomes]
rs60120280	0.84[AFR][1000 genomes]
rs61312290	0.82[AFR][1000 genomes]
rs72838741	0.82[AFR][1000 genomes]
rs72838743	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[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	chr10:99081200-99091200	Weak transcription	Psoas Muscle	Psoas
3	chr10:99081200-99092600	Weak transcription	Aorta	Aorta
4	chr10:99081600-99091000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr10:99081600-99091600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr10:99081600-99091600	Weak transcription	Fetal Kidney	kidney
7	chr10:99081600-99091600	Weak transcription	HSMMtube	muscle
8	chr10:99081800-99091000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:99081800-99091000	Weak transcription	HUVEC	blood vessel
10	chr10:99081800-99091200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr10:99081800-99091200	Weak transcription	Small Intestine	intestine
12	chr10:99081800-99091200	Weak transcription	HSMM	muscle
13	chr10:99081800-99091800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:99081800-99092000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr10:99081800-99092600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:99082000-99091000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr10:99082000-99091000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr10:99082000-99091200	Weak transcription	Placenta	Placenta
19	chr10:99082200-99091200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr10:99082200-99091600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:99082400-99090000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr10:99082400-99090800	Weak transcription	Fetal Brain Male	brain
23	chr10:99082400-99091200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:99083200-99091000	Weak transcription	Brain Substantia Nigra	brain
25	chr10:99084200-99091000	Enhancers	Stomach Mucosa	stomach
26	chr10:99084200-99091600	Weak transcription	Osteobl	bone
27	chr10:99085200-99091800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:99085600-99091200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr10:99085800-99091200	Weak transcription	Fetal Brain Female	brain
30	chr10:99086200-99090600	Weak transcription	Brain Germinal Matrix	brain
31	chr10:99086400-99090000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr10:99086800-99091200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:99086800-99091600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr10:99086800-99091800	Enhancers	Pancreas	Pancrea
35	chr10:99086800-99093200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
36	chr10:99087200-99090000	Genic enhancers	Primary monocytes fromperipheralblood	blood
37	chr10:99087200-99090000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr10:99087200-99091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:99087600-99091000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr10:99087600-99091800	Enhancers	Right Ventricle	heart
41	chr10:99087800-99090000	Strong transcription	Thymus	Thymus
42	chr10:99087800-99090200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:99087800-99090200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr10:99087800-99090600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
45	chr10:99088000-99090000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr10:99088000-99090400	Strong transcription	Fetal Stomach	stomach
47	chr10:99088000-99091000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr10:99088000-99091800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr10:99088200-99090000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr10:99088200-99090200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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