Variant report

Variant	rs34995046
Chromosome Location	chr1:155988485-155988486
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155987340..155997180-chr1:156020881..156026682,16	K562	blood:
2	chr1:155978931..155981805-chr1:155987502..155989827,3	MCF-7	breast:
3	chr1:155988173..156003032-chr1:156020965..156026206,23	MCF-7	breast:
4	chr1:155902926..155905486-chr1:155988342..155992219,3	K562	blood:
5	chr1:155987019..155989016-chr1:155990540..155992147,2	MCF-7	breast:
6	chr1:155947462..155948981-chr1:155988389..155991184,2	K562	blood:
7	chr1:155902781..155905486-chr1:155988342..155993651,4	K562	blood:
8	chr1:155966198..155968380-chr1:155986510..155988519,2	K562	blood:
9	chr1:155986002..155988987-chr1:155989273..155990802,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116584	Chromatin interaction
ENSG00000163479	Chromatin interaction
ENSG00000273002	Chromatin interaction
ENSG00000160803	Chromatin interaction
ENSG00000132680	Chromatin interaction
ENSG00000116586	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	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11577179	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11582305	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12032631	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12043212	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12128541	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1475766	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17381047	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17385065	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1966243	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2095402	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2297792	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2364400	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2364401	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2886070	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34126883	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34444588	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4330912	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4661079	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6668204	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7517202	0.95[AMR][1000 genomes];0.87[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
rs34995046	RIT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155973800-155989400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:155976000-155989600	Strong transcription	Fetal Stomach	stomach
3	chr1:155976200-155988800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:155976600-155988600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr1:155976600-155988800	Strong transcription	Fetal Intestine Small	intestine
6	chr1:155976600-155989200	Strong transcription	Fetal Intestine Large	intestine
7	chr1:155976600-155989400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:155976800-155989400	Strong transcription	Fetal Thymus	thymus
9	chr1:155976800-155989600	Strong transcription	Fetal Muscle Leg	muscle
10	chr1:155977200-155989200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr1:155978200-155988600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:155978200-155989000	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:155978200-155989200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:155978200-155989200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:155978200-155989200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:155978200-155989200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:155978200-155989600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:155978200-155989600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:155978200-155989600	Strong transcription	Placenta	Placenta
20	chr1:155978400-155988600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:155978400-155988600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:155978400-155988600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:155978400-155989000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:155978400-155989000	Strong transcription	Brain Germinal Matrix	brain
25	chr1:155978400-155989200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:155978400-155989200	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr1:155978400-155989400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:155978400-155989400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:155978400-155989400	Strong transcription	NHEK	skin
30	chr1:155978400-155989600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:155978400-155989600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr1:155978400-155989600	Strong transcription	HSMMtube	muscle
33	chr1:155978400-155989600	Strong transcription	Osteobl	bone
34	chr1:155978600-155988600	Strong transcription	Brain Angular Gyrus	brain
35	chr1:155978600-155989000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:155978600-155989200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:155978600-155989400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:155979000-155989600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:155979200-155989200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:155979200-155989800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:155979400-155989200	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:155979600-155989400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:155979800-155989400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:155982000-155989800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:155982200-155989600	Weak transcription	Stomach Mucosa	stomach
46	chr1:155982800-155989000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:155983200-155990200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr1:155983800-155988800	Strong transcription	Primary B cells from peripheral blood	blood
49	chr1:155984200-155989000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:155985000-155988800	Weak transcription	HMEC	breast

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