Variant report

Variant	rs72818991
Chromosome Location	chr10:98394310-98394311
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	chr10:98393688-98394312	GM12891	blood:	n/a	n/a
2	POLR2A	chr10:98393621-98394398	GM12878	blood:	n/a	n/a
3	POLR2A	chr10:98393681-98394710	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:98344586..98349024-chr10:98390080..98394763,4	MCF-7	breast:

Variant related genes	Relation type
PIK3AP1	TF binding region
ENSG00000077147	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1469847	0.80[EUR][1000 genomes]
rs4320890	0.80[EUR][1000 genomes]
rs4344416	0.80[EUR][1000 genomes]
rs4919042	0.80[EUR][1000 genomes]
rs4919043	0.80[EUR][1000 genomes]
rs6584091	0.80[EUR][1000 genomes]
rs72816995	0.83[AMR][1000 genomes]
rs72818904	0.83[AMR][1000 genomes]
rs72818908	0.83[AMR][1000 genomes]
rs72818980	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72818982	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72818983	0.80[EUR][1000 genomes]
rs72818985	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72818986	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72818995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72818996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72818997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72818998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7893657	0.80[EUR][1000 genomes]
rs7900070	0.80[EUR][1000 genomes]
rs7905024	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413353	chr10:98039370-98561524	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	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
3	nsv7502	chr10:98384703-98429505	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv895910	chr10:98386483-98640994	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98350800-98395600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr10:98352400-98399400	Strong transcription	Primary B cells from peripheral blood	blood
3	chr10:98352600-98403000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr10:98353000-98403000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr10:98367400-98418600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr10:98379000-98396200	Weak transcription	HepG2	liver
7	chr10:98381600-98408200	Weak transcription	Lung	lung
8	chr10:98385200-98400800	Weak transcription	Pancreas	Pancrea
9	chr10:98387000-98410200	Weak transcription	Gastric	stomach
10	chr10:98390600-98400800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr10:98391600-98395400	Strong transcription	Primary B cells from cord blood	blood
12	chr10:98392200-98398400	Enhancers	Fetal Intestine Small	intestine
13	chr10:98392200-98400200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr10:98392400-98394800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:98392400-98398400	Enhancers	Fetal Intestine Large	intestine
16	chr10:98392600-98396200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr10:98392800-98396000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr10:98393000-98396200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr10:98393000-98396200	Weak transcription	Ovary	ovary
20	chr10:98393000-98396200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr10:98393000-98396200	Weak transcription	Stomach Mucosa	stomach
22	chr10:98393000-98408000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr10:98393200-98400000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr10:98393200-98400600	Strong transcription	GM12878-XiMat	blood
25	chr10:98393400-98394400	Enhancers	Placenta	Placenta
26	chr10:98393600-98395000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:98393600-98395000	Strong transcription	Liver	Liver
28	chr10:98393800-98394400	Strong transcription	Primary hematopoietic stem cells	blood
29	chr10:98393800-98395200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr10:98394000-98394400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr10:98394000-98395400	Strong transcription	Spleen	Spleen
32	chr10:98394000-98396200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr10:98394200-98396200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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