Variant report

Variant	rs10445339
Chromosome Location	chr17:46216314-46216315
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	chr17:46216297-46216512	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46202911..46205247-chr17:46215503..46217018,2	K562	blood:
2	chr17:46202789..46205247-chr17:46215518..46217432,2	K562	blood:

Variant related genes	Relation type
SKAP1	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1002330	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10445377	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10853098	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11079814	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11870056	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11872095	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12150533	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12452956	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12603115	0.83[EUR][1000 genomes]
rs12603380	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12936369	0.81[ASN][1000 genomes]
rs12941830	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12947089	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12948810	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1316657	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1377201	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1452666	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1452667	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17620033	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17681336	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1860862	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1860863	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2021752	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2021811	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2041572	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2060876	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs208005	0.83[ASN][1000 genomes]
rs208008	0.83[ASN][1000 genomes]
rs208009	0.83[ASN][1000 genomes]
rs208011	0.81[ASN][1000 genomes]
rs208012	0.81[ASN][1000 genomes]
rs208019	0.83[ASN][1000 genomes]
rs2109982	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2123341	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2278868	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2305433	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2325784	0.82[ASN][1000 genomes]
rs2325804	0.83[ASN][1000 genomes]
rs2938483	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34949267	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3792692	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3792694	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3805363	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3805370	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3805371	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3815472	0.83[ASN][1000 genomes]
rs3897986	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3944039	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4793779	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4794447	0.88[ASN][1000 genomes]
rs4794505	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4794517	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4794525	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55696440	0.81[ASN][1000 genomes]
rs55982346	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62066407	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62066447	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6504108	0.95[ASN][1000 genomes]
rs66683298	0.80[EUR][1000 genomes]
rs67446770	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71356521	0.81[ASN][1000 genomes]
rs7210149	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7213876	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7219967	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7220619	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7220768	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7220922	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7223867	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7225435	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7225550	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7225865	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7501770	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs758999	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8069064	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8069263	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8072282	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8075270	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8079616	0.83[ASN][1000 genomes]
rs882380	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs954226	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9903692	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46191200-46220800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:46197800-46221000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:46200400-46236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr17:46201400-46217600	Weak transcription	Fetal Thymus	thymus
5	chr17:46203000-46217000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr17:46204000-46220000	Weak transcription	GM12878-XiMat	blood
7	chr17:46204200-46216600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:46204200-46225200	Weak transcription	Liver	Liver
9	chr17:46204400-46221000	Weak transcription	Thymus	Thymus
10	chr17:46204600-46216600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr17:46204600-46217000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr17:46205000-46216800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr17:46205000-46217400	Weak transcription	Primary B cells from cord blood	blood
14	chr17:46205400-46217400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr17:46205600-46217000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr17:46206400-46220800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr17:46210000-46224200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr17:46210600-46217000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:46211200-46231600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr17:46212400-46234800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr17:46213400-46220800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr17:46214800-46216800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:46215200-46217000	Weak transcription	Primary T cells from cord blood	blood
24	chr17:46215400-46225400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:46215600-46217000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr17:46215600-46219000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr17:46215800-46216600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr17:46215800-46216600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr17:46216000-46216400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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