Variant report

Variant	rs822509
Chromosome Location	chr1:155850811-155850812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs12024880	0.82[ASN][1000 genomes]
rs12027412	0.82[ASN][1000 genomes]
rs12563627	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1749405	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1749410	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2993207	0.88[ASN][1000 genomes]
rs4661151	0.82[ASN][1000 genomes]
rs488079	0.82[ASN][1000 genomes]
rs539602	0.82[ASN][1000 genomes]
rs625658	0.82[ASN][1000 genomes]
rs656247	0.84[ASN][1000 genomes]
rs656737	0.85[ASN][1000 genomes]
rs729022	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7517204	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538214	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs822490	0.83[EUR][1000 genomes]
rs822504	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs822505	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs822508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	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
rs822509	RIT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155830000-155869000	Weak transcription	Gastric	stomach
2	chr1:155830400-155865800	Weak transcription	Esophagus	oesophagus
3	chr1:155830600-155866800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:155830800-155852000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:155831000-155851000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:155831000-155862600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:155831000-155862800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:155831000-155863000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:155831200-155862800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:155831400-155859000	Weak transcription	HUVEC	blood vessel
11	chr1:155836400-155866400	Weak transcription	Primary B cells from cord blood	blood
12	chr1:155837600-155863000	Weak transcription	Colonic Mucosa	Colon
13	chr1:155841400-155863000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:155841800-155869200	Weak transcription	Right Ventricle	heart
15	chr1:155842600-155863400	Weak transcription	Right Atrium	heart
16	chr1:155842800-155852600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:155842800-155853400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:155844000-155852000	Strong transcription	Fetal Stomach	stomach
19	chr1:155844000-155853600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:155844000-155862200	Weak transcription	Lung	lung
21	chr1:155844200-155853600	Weak transcription	NH-A	brain
22	chr1:155844200-155854200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:155844200-155855400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:155844400-155874000	Weak transcription	Fetal Brain Male	brain
25	chr1:155845200-155853400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:155846800-155852200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:155846800-155854000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:155847000-155860200	Strong transcription	Fetal Brain Female	brain
29	chr1:155847200-155860200	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:155847400-155860400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:155847600-155857000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:155847600-155866400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:155847800-155853400	Strong transcription	Brain Anterior Caudate	brain
34	chr1:155847800-155853400	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr1:155848200-155852400	Strong transcription	Brain Substantia Nigra	brain
36	chr1:155849000-155851200	Enhancers	Fetal Intestine Small	intestine
37	chr1:155849000-155858000	Strong transcription	Brain Germinal Matrix	brain
38	chr1:155849400-155851400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:155849400-155851400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr1:155849400-155853200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr1:155849400-155863000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:155849600-155851400	Strong transcription	Aorta	Aorta
43	chr1:155849600-155852600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:155849600-155853000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:155849600-155853400	Strong transcription	Brain Hippocampus Middle	brain
46	chr1:155849600-155854400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:155849600-155862800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:155849800-155853200	Strong transcription	Left Ventricle	heart
49	chr1:155850000-155851400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:155850000-155851400	Strong transcription	NHLF	lung

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