Variant report

Variant	rs822494
Chromosome Location	chr1:155825697-155825698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155823442..155829143-chr1:155879989..155882670,6	MCF-7	breast:
2	chr1:155825653..155829252-chr1:155877943..155882760,5	MCF-7	breast:
3	chr1:155824896..155829386-chr1:155902844..155905236,4	MCF-7	breast:
4	chr1:155821775..155825361-chr1:155825507..155828654,6	MCF-7	breast:
5	chr1:155825368..155829605-chr1:155879516..155883021,7	K562	blood:
6	chr1:155825171..155830547-chr1:155878470..155884979,12	K562	blood:
7	chr1:155806357..155807904-chr1:155825456..155826957,2	K562	blood:

Variant related genes	Relation type
ENSG00000132680	Chromatin interaction
ENSG00000143622	Chromatin interaction
ENSG00000116580	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3820594	0.98[ASN][1000 genomes]
rs7556519	0.98[ASN][1000 genomes]
rs822490	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1003170	chr1:155762204-155836564	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	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
rs822494	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	chr1:155792200-155826000	Weak transcription	Stomach Mucosa	stomach
2	chr1:155792400-155826600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:155803800-155826000	Weak transcription	Right Atrium	heart
4	chr1:155808000-155826000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:155813200-155826200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:155813600-155826200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:155813800-155826000	Weak transcription	Right Ventricle	heart
8	chr1:155815200-155825800	Weak transcription	Fetal Heart	heart
9	chr1:155815800-155826000	Weak transcription	Psoas Muscle	Psoas
10	chr1:155823400-155825800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:155823400-155826000	Weak transcription	Small Intestine	intestine
12	chr1:155823600-155826000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:155823600-155826000	Weak transcription	Brain Angular Gyrus	brain
14	chr1:155823600-155826000	Weak transcription	Pancreas	Pancrea
15	chr1:155823600-155826000	Weak transcription	HMEC	breast
16	chr1:155823600-155826400	Weak transcription	Aorta	Aorta
17	chr1:155823600-155826400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:155823800-155825800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:155823800-155826000	Weak transcription	Brain Substantia Nigra	brain
20	chr1:155823800-155826000	Weak transcription	Gastric	stomach
21	chr1:155823800-155826000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:155823800-155826000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:155824000-155825800	Weak transcription	NH-A	brain
24	chr1:155824400-155825800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:155824400-155826000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:155824400-155826000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:155824400-155826000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:155824400-155826000	Weak transcription	Esophagus	oesophagus
29	chr1:155824600-155825800	Weak transcription	Brain Germinal Matrix	brain
30	chr1:155824600-155825800	Weak transcription	Fetal Intestine Large	intestine
31	chr1:155824600-155826000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:155824600-155826000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:155824600-155826000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:155824600-155826000	Weak transcription	Brain Anterior Caudate	brain
35	chr1:155824600-155826000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:155824600-155826000	Weak transcription	HUVEC	blood vessel
37	chr1:155824600-155826200	Weak transcription	Fetal Kidney	kidney
38	chr1:155824800-155825800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:155824800-155825800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:155824800-155825800	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:155824800-155825800	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:155824800-155826000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:155824800-155826000	Weak transcription	Adipose Nuclei	Adipose
44	chr1:155824800-155826000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:155824800-155826000	Weak transcription	Fetal Brain Female	brain
46	chr1:155824800-155826000	Weak transcription	Lung	lung
47	chr1:155824800-155826000	Weak transcription	Ovary	ovary
48	chr1:155824800-155826000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:155824800-155826000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr1:155824800-155826600	Weak transcription	Left Ventricle	heart

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