Variant report

Variant	rs4441690
Chromosome Location	chr3:100131897-100131898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:100119703..100124420-chr3:100130345..100135405,7	K562	blood:
2	chr3:100125929..100131101-chr3:100131208..100137515,9	MCF-7	breast:
3	chr3:100124446..100128777-chr3:100130213..100134934,4	MCF-7	breast:
4	chr3:100131475..100134167-chr3:100148948..100151387,2	K562	blood:
5	chr3:100126754..100128460-chr3:100131723..100134239,2	K562	blood:

Variant related genes	Relation type
ENSG00000154174	Chromatin interaction
ENSG00000206535	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11714045	0.81[ASN][1000 genomes]
rs13071905	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13073252	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13082297	0.83[ASN][1000 genomes]
rs1486308	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1561743	0.83[ASN][1000 genomes]
rs2289502	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2289505	0.83[ASN][1000 genomes]
rs2289506	0.83[ASN][1000 genomes]
rs34645158	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35281373	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35945684	0.82[ASN][1000 genomes]
rs3772693	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4928123	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4928124	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4928125	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62274146	0.83[ASN][1000 genomes]
rs62274147	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6771481	0.80[EUR][1000 genomes]
rs73150352	0.99[ASN][1000 genomes]
rs756103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7649598	0.81[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4441690	TOMM70A	Cis_1M	lymphoblastoid	RTeQTL
rs4441690	TMEM45A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100122000-100143800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:100122400-100132400	Weak transcription	Primary T cells from cord blood	blood
3	chr3:100122600-100132400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:100122600-100133600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:100122600-100149200	Weak transcription	Left Ventricle	heart
6	chr3:100123000-100132600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:100123000-100133600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:100123200-100133600	Weak transcription	A549	lung
9	chr3:100123200-100135400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:100123400-100132000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:100123400-100132000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:100123400-100132000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:100124200-100143600	Weak transcription	Hela-S3	cervix
14	chr3:100126400-100133200	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:100126400-100143200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr3:100126600-100139800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:100127400-100132200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:100127400-100133000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:100127400-100134200	Weak transcription	Gastric	stomach
20	chr3:100127400-100139000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:100127400-100144200	Weak transcription	Pancreas	Pancrea
22	chr3:100127600-100134800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr3:100127600-100137800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr3:100127600-100146200	Weak transcription	Ovary	ovary
25	chr3:100127600-100148200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:100127800-100132000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr3:100129400-100132400	ZNF genes & repeats	Fetal Muscle Leg	muscle
28	chr3:100130200-100135400	Weak transcription	Fetal Intestine Large	intestine
29	chr3:100130600-100136000	Weak transcription	Fetal Lung	lung
30	chr3:100130600-100139000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:100130600-100142400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:100130600-100162800	Weak transcription	Fetal Brain Male	brain
33	chr3:100130800-100132400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr3:100131000-100132200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:100131000-100132200	Enhancers	Psoas Muscle	Psoas
36	chr3:100131000-100139000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr3:100131200-100132200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr3:100131200-100132800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:100131200-100143400	Weak transcription	Liver	Liver
40	chr3:100131400-100132000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:100131400-100132200	Strong transcription	HepG2	liver
42	chr3:100131400-100133600	Weak transcription	Fetal Stomach	stomach
43	chr3:100131600-100132200	ZNF genes & repeats	Brain Germinal Matrix	brain
44	chr3:100131600-100132400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr3:100131600-100132600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:100131600-100132800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr3:100131600-100132800	Enhancers	HSMMtube	muscle
48	chr3:100131800-100132000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:100131800-100132000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr3:100131800-100132000	Strong transcription	Aorta	Aorta

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