Variant report

Variant	rs17385065
Chromosome Location	chr1:155976388-155976389
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155976325-155977383	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155974280..155976413-chr1:155989519..155992083,2	MCF-7	breast:
2	chr1:155958637..155961186-chr1:155975621..155978419,3	MCF-7	breast:

Variant related genes	Relation type
ARHGEF2	TF binding region
ENSG00000163479	Chromatin interaction
ENSG00000224276	Chromatin interaction
ENSG00000116584	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10908486	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577179	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582305	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12032631	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12043212	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12128541	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1475766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17381047	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1966243	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2095402	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2297792	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2364400	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2364401	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2886070	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34126883	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34444588	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34995046	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4330912	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4661079	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668204	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7517202	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][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
rs17385065	RIT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155959200-155978200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:155959400-155976600	Weak transcription	Aorta	Aorta
3	chr1:155966200-155976600	Weak transcription	Brain Substantia Nigra	brain
4	chr1:155966200-155976800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:155966400-155978200	Weak transcription	Left Ventricle	heart
6	chr1:155966400-155978400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:155967000-155976600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:155967000-155976600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:155967000-155978400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:155970800-155978200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:155971400-155978600	Weak transcription	Brain Angular Gyrus	brain
12	chr1:155971400-155978600	Weak transcription	NHDF-Ad	bronchial
13	chr1:155971600-155978400	Weak transcription	Ovary	ovary
14	chr1:155971600-155978400	Weak transcription	Right Ventricle	heart
15	chr1:155971600-155978600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:155971800-155976600	Weak transcription	Placenta	Placenta
17	chr1:155971800-155976600	Weak transcription	Pancreas	Pancrea
18	chr1:155971800-155976800	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:155971800-155978400	Weak transcription	Osteobl	bone
20	chr1:155971800-155978600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:155972000-155976600	Weak transcription	Liver	Liver
22	chr1:155972000-155976600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr1:155972000-155978600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:155972200-155976600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr1:155972200-155976600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:155972200-155976800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:155972400-155976800	Weak transcription	Adipose Nuclei	Adipose
28	chr1:155972400-155978400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:155972400-155978400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:155972400-155978400	Weak transcription	Fetal Kidney	kidney
31	chr1:155972400-155978600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:155972600-155976600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:155972800-155976600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:155972800-155978400	Weak transcription	HSMMtube	muscle
35	chr1:155973400-155976600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:155973400-155978200	Weak transcription	Esophagus	oesophagus
37	chr1:155973400-155978400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:155973400-155978400	Weak transcription	HSMM	muscle
39	chr1:155973600-155978600	Weak transcription	NH-A	brain
40	chr1:155973800-155976600	Weak transcription	Fetal Lung	lung
41	chr1:155973800-155978200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:155973800-155978400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:155973800-155978400	Weak transcription	Small Intestine	intestine
44	chr1:155973800-155978600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:155973800-155978600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:155973800-155989400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr1:155974000-155976600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:155974000-155976600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:155974000-155976600	Weak transcription	NHEK	skin
50	chr1:155974000-155978400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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