Variant report

Variant	rs73289207
Chromosome Location	chr10:46053862-46053863
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:46047681..46050727-chr10:46051442..46055483,4	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10793618	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10793621	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1080264	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11239558	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11239559	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11239564	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11239565	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11239567	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11239570	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11239577	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11239585	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11239587	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11528544	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12217545	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12766066	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1565096	0.88[EUR][1000 genomes]
rs1565097	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1982794	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982795	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1994426	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3740107	0.86[EUR][1000 genomes]
rs3824617	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4948673	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4949003	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7074524	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7095806	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7900810	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7900977	0.91[EUR][1000 genomes]
rs7918454	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv1043536	chr10:45915941-46076235	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv895111	chr10:45989745-46071900	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv895112	chr10:46012620-46202216	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv1041417	chr10:46021181-46088061	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv528750	chr10:46024620-46076235	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1052233	chr10:46024620-46088061	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1047117	chr10:46027942-46075946	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs73289207	AGAP4	cis	Whole Blood	GTEx
rs73289207	AGAP4	cis	Skin Sun Exposed Lower leg	GTEx
rs73289207	ZFAND4	cis	Nerve Tibial	GTEx
rs73289207	AGAP4	cis	Artery Tibial	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:46010000-46056000	Weak transcription	Esophagus	oesophagus
2	chr10:46014400-46070000	Weak transcription	Psoas Muscle	Psoas
3	chr10:46026200-46057600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:46028200-46055600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr10:46028800-46069200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr10:46040000-46054000	Weak transcription	Fetal Lung	lung
7	chr10:46040000-46056000	Weak transcription	Colonic Mucosa	Colon
8	chr10:46040400-46056600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:46042000-46062600	Weak transcription	Aorta	Aorta
10	chr10:46042200-46054800	Weak transcription	Fetal Intestine Small	intestine
11	chr10:46043400-46057800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr10:46044400-46057800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr10:46045000-46058600	Weak transcription	Fetal Stomach	stomach
14	chr10:46046200-46057400	Weak transcription	Fetal Muscle Leg	muscle
15	chr10:46046400-46055400	Weak transcription	Fetal Intestine Large	intestine
16	chr10:46047000-46076400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr10:46049400-46065200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr10:46050400-46055000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr10:46051600-46054400	Enhancers	Brain Hippocampus Middle	brain
20	chr10:46051800-46054200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:46051800-46055600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr10:46051800-46057600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:46052000-46054400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr10:46052000-46054400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr10:46052200-46054200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr10:46052200-46055600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr10:46052400-46054400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr10:46052400-46054400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr10:46052600-46054200	Enhancers	Fetal Thymus	thymus
30	chr10:46052600-46054200	Enhancers	Left Ventricle	heart
31	chr10:46052600-46054200	Enhancers	Lung	lung
32	chr10:46052600-46054200	Enhancers	Spleen	Spleen
33	chr10:46052600-46055000	Enhancers	Primary B cells from peripheral blood	blood
34	chr10:46052600-46055000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr10:46052800-46054000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr10:46052800-46054200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr10:46052800-46054200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr10:46052800-46054200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr10:46052800-46054200	Enhancers	Primary T cells from cord blood	blood
40	chr10:46052800-46054200	Enhancers	Dnd41	blood
41	chr10:46052800-46054400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr10:46052800-46054400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr10:46052800-46054400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr10:46052800-46054400	Enhancers	Liver	Liver
45	chr10:46052800-46055000	Enhancers	Brain Anterior Caudate	brain
46	chr10:46053000-46054000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr10:46053000-46054000	Enhancers	Adipose Nuclei	Adipose
48	chr10:46053000-46054200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr10:46053000-46054200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr10:46053000-46054200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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