Variant report

Variant	rs12091361
Chromosome Location	chr1:155929673-155929674
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155928002..155929821-chr1:156037372..156039746,2	K562	blood:
2	chr1:155902649..155906864-chr1:155928278..155934368,7	MCF-7	breast:
3	chr1:155928147..155930680-chr1:155950511..155952920,2	K562	blood:
4	chr1:155910241..155913815-chr1:155925549..155931886,5	K562	blood:
5	chr1:155929665..155932692-chr1:155935407..155940311,5	MCF-7	breast:
6	chr1:155928325..155931232-chr1:155957996..155960430,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132698	Chromatin interaction
ENSG00000116584	Chromatin interaction
ENSG00000132680	Chromatin interaction
ENSG00000173080	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10908483	0.88[AFR][1000 genomes]
rs11264426	0.93[ASN][1000 genomes]
rs11585845	0.93[ASN][1000 genomes]
rs12037177	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12080846	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12091273	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144175	0.90[AFR][1000 genomes]
rs2016251	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2282301	0.80[AMR][1000 genomes]
rs2297649	0.95[ASN][1000 genomes]
rs2364403	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66466805	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6667652	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6696019	0.83[AFR][1000 genomes]
rs7534858	0.89[ASN][1000 genomes]
rs867548	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs867549	0.80[AMR][1000 genomes]
rs867550	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs915181	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[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
rs12091361	RIT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155905000-155945600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:155911200-155940000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:155914800-155929800	Strong transcription	Fetal Stomach	stomach
4	chr1:155914800-155930200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:155914800-155931600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:155915200-155930600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:155915200-155936800	Strong transcription	Fetal Brain Female	brain
8	chr1:155915200-155937000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:155915800-155929800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:155915800-155929800	Strong transcription	HSMMtube	muscle
11	chr1:155915800-155930000	Strong transcription	Left Ventricle	heart
12	chr1:155915800-155930400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:155915800-155930400	Strong transcription	Osteobl	bone
14	chr1:155915800-155930600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:155915800-155931600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:155915800-155935200	Strong transcription	Brain Germinal Matrix	brain
17	chr1:155915800-155936600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:155916000-155930600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:155916000-155931400	Strong transcription	HUVEC	blood vessel
20	chr1:155916000-155937000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:155916200-155929800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:155916200-155929800	Strong transcription	Stomach Smooth Muscle	stomach
23	chr1:155916200-155930200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:155916200-155931600	Weak transcription	Right Atrium	heart
25	chr1:155916200-155932400	Strong transcription	Colon Smooth Muscle	Colon
26	chr1:155916200-155937000	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:155916400-155930400	Strong transcription	Adipose Nuclei	Adipose
28	chr1:155916400-155930600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:155916400-155931800	Strong transcription	Lung	lung
30	chr1:155916400-155936200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:155916400-155936400	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr1:155916400-155936600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:155916400-155937200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:155916400-155937400	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:155916600-155930000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:155916600-155932400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:155916600-155935800	Strong transcription	Fetal Intestine Small	intestine
38	chr1:155916600-155937000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:155916600-155937200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:155916800-155931600	Strong transcription	Colonic Mucosa	Colon
41	chr1:155916800-155932400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr1:155916800-155937000	Strong transcription	Thymus	Thymus
43	chr1:155917000-155931800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr1:155917000-155937200	Strong transcription	Fetal Intestine Large	intestine
45	chr1:155917000-155939400	Strong transcription	Dnd41	blood
46	chr1:155917200-155929800	Strong transcription	Aorta	Aorta
47	chr1:155917200-155930400	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:155917200-155936800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:155917400-155930000	Strong transcription	Fetal Muscle Leg	muscle
50	chr1:155917400-155931600	Strong transcription	Duodenum Mucosa	Duodenum

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