Variant report

Variant	rs2858335
Chromosome Location	chr22:32938416-32938417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:31998728-32011472..22:32937912-32941862	K562	blood:
2	chr22:32938120..32940218-chr22:32990047..32992298,2	MCF-7	breast:
3	chr22:32935341..32940851-chr22:32952313..32956913,8	MCF-7	breast:
4	chr22:32936212..32939434-chr22:32941471..32944860,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198089	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs130456	0.80[CEU][hapmap]
rs130457	0.80[CEU][hapmap]
rs2710380	1.00[CEU][hapmap]
rs9609518	1.00[LWK][hapmap]

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	nsv914981	chr22:32912277-32940660	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2858335	SEC14L2	cis	parietal	SCAN
rs2858335	CCDC117	cis	parietal	SCAN
rs2858335	HORMAD2	cis	parietal	SCAN
rs2858335	AP1B1	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32929000-32940800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:32934200-32942200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:32934800-32939400	Enhancers	Fetal Muscle Leg	muscle
4	chr22:32935200-32942800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:32935800-32939600	Enhancers	Right Ventricle	heart
6	chr22:32936200-32941400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr22:32936400-32938600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr22:32936600-32938600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:32936600-32941000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:32936800-32941400	Weak transcription	HepG2	liver
11	chr22:32936800-32942000	Weak transcription	Liver	Liver
12	chr22:32937200-32939600	Enhancers	Ovary	ovary
13	chr22:32937200-32939800	Enhancers	Left Ventricle	heart
14	chr22:32937200-32940000	Enhancers	Right Atrium	heart
15	chr22:32937200-32942000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr22:32937400-32941400	Weak transcription	Hela-S3	cervix
17	chr22:32937600-32939800	Enhancers	Lung	lung
18	chr22:32937800-32938600	Enhancers	Stomach Smooth Muscle	stomach
19	chr22:32937800-32939000	Enhancers	Pancreas	Pancrea
20	chr22:32937800-32939200	Enhancers	Spleen	Spleen
21	chr22:32938000-32939000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr22:32938000-32939200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:32938000-32939200	Enhancers	Esophagus	oesophagus
24	chr22:32938000-32939200	Enhancers	Fetal Stomach	stomach
25	chr22:32938000-32939200	Enhancers	HSMMtube	muscle
26	chr22:32938000-32940400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr22:32938200-32938600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr22:32938200-32938600	Enhancers	Colon Smooth Muscle	Colon
29	chr22:32938200-32938600	ZNF genes & repeats	Fetal Brain Male	brain
30	chr22:32938200-32938600	Flanking Active TSS	Fetal Lung	lung
31	chr22:32938200-32938800	Enhancers	K562	blood
32	chr22:32938200-32939000	Enhancers	Gastric	stomach
33	chr22:32938200-32939000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr22:32938200-32939200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:32938200-32939400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr22:32938200-32939800	Enhancers	Placenta	Placenta
37	chr22:32938400-32938800	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr22:32938400-32938800	Enhancers	Fetal Heart	heart
39	chr22:32938400-32938800	Enhancers	HSMM	muscle
40	chr22:32938400-32938800	Bivalent Enhancer	NHLF	lung
41	chr22:32938400-32939000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr22:32938400-32939200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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