Variant report

Variant	rs13082297
Chromosome Location	chr3:100071070-100071071
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:100042421..100044566-chr3:100070698..100073226,2	K562	blood:
2	chr3:100066721..100069295-chr3:100070418..100073671,4	MCF-7	breast:
3	chr3:100067925..100070797-chr3:100070813..100073426,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1045206	0.83[EUR][1000 genomes]
rs11714045	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1214375	0.83[EUR][1000 genomes]
rs13071905	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13073252	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1486308	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1561743	1.00[ASN][1000 genomes]
rs2289502	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2289505	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289506	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34645158	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35281373	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35945684	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3772693	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs395399	0.83[EUR][1000 genomes]
rs4441690	0.83[ASN][1000 genomes]
rs4928123	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4928124	0.82[ASN][1000 genomes]
rs61436017	0.95[ASN][1000 genomes]
rs62274141	0.82[ASN][1000 genomes]
rs62274146	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62274147	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73150352	0.84[ASN][1000 genomes]
rs756103	0.83[ASN][1000 genomes]
rs7649598	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1003924	chr3:99933762-100112690	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13082297	TMEM45A	Cis_1M	lymphoblastoid	RTeQTL
rs13082297	TOMM70A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100054200-100081000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:100054600-100102600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:100054800-100081000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:100054800-100097200	Weak transcription	Stomach Mucosa	stomach
5	chr3:100054800-100102200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:100055000-100082400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:100057800-100071400	Weak transcription	Fetal Heart	heart
8	chr3:100063200-100071200	Weak transcription	K562	blood
9	chr3:100063400-100072000	Weak transcription	HUVEC	blood vessel
10	chr3:100064200-100071200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:100066400-100071200	Weak transcription	NHLF	lung
12	chr3:100069400-100071200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:100069400-100071200	Weak transcription	Psoas Muscle	Psoas
14	chr3:100069400-100082400	Weak transcription	Fetal Brain Male	brain
15	chr3:100069600-100071200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:100069600-100071200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:100069600-100071200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:100069600-100071200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:100069600-100071200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:100069600-100071200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:100069600-100071200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:100069600-100071200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:100069600-100071200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:100069600-100071200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:100069600-100071200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:100069600-100071200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr3:100069600-100071200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr3:100069600-100071200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr3:100069600-100071200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr3:100069600-100071200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:100069600-100071200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr3:100069600-100071200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr3:100069600-100071200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr3:100069600-100071200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:100069600-100071200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:100069600-100071200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:100069600-100071200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:100069600-100071200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:100069600-100071200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr3:100069600-100071200	Weak transcription	Adipose Nuclei	Adipose
41	chr3:100069600-100071200	Weak transcription	Aorta	Aorta
42	chr3:100069600-100071200	Weak transcription	Brain Angular Gyrus	brain
43	chr3:100069600-100071200	Weak transcription	Brain Anterior Caudate	brain
44	chr3:100069600-100071200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr3:100069600-100071200	Weak transcription	Brain Hippocampus Middle	brain
46	chr3:100069600-100071200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr3:100069600-100071200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:100069600-100071200	Weak transcription	Colonic Mucosa	Colon
49	chr3:100069600-100071200	Weak transcription	Colon Smooth Muscle	Colon
50	chr3:100069600-100071200	Weak transcription	Duodenum Mucosa	Duodenum

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