Variant report

Variant	rs1045610
Chromosome Location	chr3:100084020-100084021
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:100083475..100086773-chr3:100086931..100091361,4	K562	blood:
2	chr3:100080264..100084111-chr3:100088044..100091810,5	MCF-7	breast:
3	chr3:100052950..100055301-chr3:100081859..100084434,3	MCF-7	breast:
4	chr3:100053013..100055623-chr3:100080603..100084402,3	K562	blood:

Variant related genes	Relation type
ENSG00000114021	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1036768	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11720172	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11927693	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12591	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17279967	0.83[EUR][1000 genomes]
rs2289501	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41272643	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60028471	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73150325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73150329	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73150348	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73150350	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[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
rs1045610	TMEM45A	Cis_1M	lymphoblastoid	RTeQTL
rs1045610	TOMM70A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100054600-100102600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:100054800-100097200	Weak transcription	Stomach Mucosa	stomach
3	chr3:100054800-100102200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:100069600-100085800	Weak transcription	Small Intestine	intestine
5	chr3:100069600-100087000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:100071000-100087800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr3:100071000-100087800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr3:100071000-100093600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:100071000-100103200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:100071000-100104400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:100071400-100088000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:100071400-100105800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:100071600-100087000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr3:100071800-100084200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:100071800-100090600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr3:100072000-100084200	Weak transcription	K562	blood
17	chr3:100072600-100084800	Weak transcription	Hela-S3	cervix
18	chr3:100073200-100090200	Weak transcription	Esophagus	oesophagus
19	chr3:100073400-100090400	Weak transcription	Pancreas	Pancrea
20	chr3:100073400-100096400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr3:100073800-100090600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr3:100073800-100098200	Weak transcription	Gastric	stomach
23	chr3:100074600-100084200	Weak transcription	Spleen	Spleen
24	chr3:100075200-100084200	Weak transcription	Right Ventricle	heart
25	chr3:100075400-100084200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr3:100075400-100086200	Weak transcription	Brain Substantia Nigra	brain
27	chr3:100077000-100106000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr3:100077200-100088000	Strong transcription	Primary B cells from cord blood	blood
29	chr3:100077200-100105600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr3:100077400-100087200	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr3:100077600-100105200	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:100078400-100084200	Weak transcription	HepG2	liver
33	chr3:100078400-100089600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:100078600-100087600	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr3:100078800-100087800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:100078800-100103000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:100078800-100104400	Strong transcription	Fetal Intestine Large	intestine
38	chr3:100079000-100092200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:100079200-100088200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr3:100079400-100086800	Strong transcription	Brain Anterior Caudate	brain
41	chr3:100079400-100103200	Strong transcription	Osteobl	bone
42	chr3:100079400-100107600	Strong transcription	Dnd41	blood
43	chr3:100079600-100085000	Strong transcription	Fetal Kidney	kidney
44	chr3:100079600-100087600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:100079600-100088000	Strong transcription	Fetal Lung	lung
46	chr3:100079600-100088600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:100079600-100091800	Strong transcription	Fetal Muscle Leg	muscle
48	chr3:100079600-100106200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr3:100079800-100085400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:100079800-100093200	Strong transcription	Fetal Thymus	thymus

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