Variant report

Variant	rs1823859
Chromosome Location	chr2:39189966-39189967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39172245..39175096-chr2:39187923..39190594,2	K562	blood:
2	chr2:39184096..39185635-chr2:39187816..39190581,2	K562	blood:

Variant related genes	Relation type
ENSG00000214694	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs371745	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1823859	SOS1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39187800-39196200	Weak transcription	Aorta	Aorta
2	chr2:39188000-39192600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:39188000-39194200	Weak transcription	Fetal Heart	heart
4	chr2:39188000-39195200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:39188000-39199800	Weak transcription	Right Ventricle	heart
6	chr2:39188000-39202000	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:39188000-39212400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:39188000-39212600	Weak transcription	Gastric	stomach
9	chr2:39188000-39213000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:39188000-39222400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:39188200-39195200	Weak transcription	Ovary	ovary
12	chr2:39188200-39201400	Weak transcription	Brain Angular Gyrus	brain
13	chr2:39188200-39201400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:39188200-39205000	Weak transcription	Fetal Brain Male	brain
15	chr2:39188200-39210800	Weak transcription	HMEC	breast
16	chr2:39188200-39211800	Weak transcription	Fetal Lung	lung
17	chr2:39188400-39191200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:39188400-39195200	Weak transcription	Brain Germinal Matrix	brain
19	chr2:39188400-39195800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:39188400-39201400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:39188400-39201600	Weak transcription	Brain Anterior Caudate	brain
22	chr2:39188400-39201600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:39188400-39212000	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:39188400-39212400	Weak transcription	Fetal Brain Female	brain
25	chr2:39188600-39193600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:39189200-39212000	Weak transcription	Fetal Muscle Trunk	muscle

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