Variant report

Variant	rs4330912
Chromosome Location	chr1:155969428-155969429
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10908486	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11577179	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12032631	0.82[AMR][1000 genomes]
rs12043212	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12128541	0.82[AMR][1000 genomes]
rs1475766	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17381047	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17385065	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2364400	0.81[AMR][1000 genomes]
rs2364401	0.82[AMR][1000 genomes]
rs2886070	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34444588	0.80[AMR][1000 genomes]
rs34995046	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4661079	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4330912	RIT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155954600-155970800	Weak transcription	NHEK	skin
2	chr1:155959200-155978200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:155959400-155970800	Weak transcription	Colonic Mucosa	Colon
4	chr1:155959400-155976600	Weak transcription	Aorta	Aorta
5	chr1:155959600-155970400	Weak transcription	Stomach Mucosa	stomach
6	chr1:155959600-155971000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:155959600-155971800	Weak transcription	Gastric	stomach
8	chr1:155959800-155970400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:155959800-155970600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:155959800-155974600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:155961200-155974600	Weak transcription	Lung	lung
12	chr1:155961600-155969600	Weak transcription	Hela-S3	cervix
13	chr1:155964800-155970600	Weak transcription	Fetal Intestine Small	intestine
14	chr1:155966200-155970600	Weak transcription	HepG2	liver
15	chr1:155966200-155970800	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:155966200-155971000	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:155966200-155971200	Weak transcription	HSMMtube	muscle
18	chr1:155966200-155973600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:155966200-155973800	Weak transcription	Right Atrium	heart
20	chr1:155966200-155976600	Weak transcription	Brain Substantia Nigra	brain
21	chr1:155966200-155976800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:155966400-155970600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:155966400-155970800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:155966400-155970800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:155966400-155970800	Weak transcription	A549	lung
26	chr1:155966400-155970800	Weak transcription	K562	blood
27	chr1:155966400-155971200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:155966400-155971600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:155966400-155971800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:155966400-155973600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:155966400-155978200	Weak transcription	Left Ventricle	heart
32	chr1:155966400-155978400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:155966600-155971600	Weak transcription	Fetal Heart	heart
34	chr1:155967000-155971200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:155967000-155976600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:155967000-155976600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:155967000-155978400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:155968600-155970800	Weak transcription	Fetal Intestine Large	intestine

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