Variant report

Variant	rs135479
Chromosome Location	chr22:32937740-32937741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:32933708..32937841-chr22:33196276..33199119,4	MCF-7	breast:
2	chr22:32935341..32940851-chr22:32952313..32956913,8	MCF-7	breast:
3	chr22:32936212..32939434-chr22:32941471..32944860,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100234	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs130456	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs130457	0.94[CHB][hapmap];0.83[CHD][hapmap]
rs135474	0.91[CEU][hapmap]
rs135476	0.91[CEU][hapmap]
rs135478	0.87[CEU][hapmap];0.89[TSI][hapmap]
rs2858337	1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.87[TSI][hapmap]
rs4550760	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs5754137	0.91[CEU][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap]
rs5754138	0.91[CEU][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap]
rs5754139	0.91[CEU][hapmap]
rs5754144	1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.88[JPT][hapmap];0.85[TSI][hapmap]
rs762908	1.00[CHB][hapmap];1.00[JPT][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs135479	DUSP18	cis	parietal	SCAN
rs135479	XBP1	cis	parietal	SCAN

Chromatin state (count:36 , 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	chr22:32931000-32937800	Weak transcription	Pancreas	Pancrea
3	chr22:32931000-32938200	Weak transcription	Colon Smooth Muscle	Colon
4	chr22:32931000-32938200	Weak transcription	Gastric	stomach
5	chr22:32931200-32937800	Weak transcription	Fetal Lung	lung
6	chr22:32932800-32937800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr22:32934200-32942200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:32934800-32938400	Enhancers	Adipose Nuclei	Adipose
9	chr22:32934800-32939400	Enhancers	Fetal Muscle Leg	muscle
10	chr22:32935200-32942800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:32935400-32938200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr22:32935600-32938400	Weak transcription	Fetal Heart	heart
13	chr22:32935800-32938200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr22:32935800-32938400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr22:32935800-32939600	Enhancers	Right Ventricle	heart
16	chr22:32936200-32938000	Weak transcription	Fetal Stomach	stomach
17	chr22:32936200-32941400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr22:32936400-32938600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr22:32936600-32937800	Weak transcription	Spleen	Spleen
20	chr22:32936600-32938200	Weak transcription	Placenta	Placenta
21	chr22:32936600-32938200	Weak transcription	K562	blood
22	chr22:32936600-32938600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr22:32936600-32941000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr22:32936800-32937800	Weak transcription	Colonic Mucosa	Colon
25	chr22:32936800-32938000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:32936800-32938400	Weak transcription	HSMM	muscle
27	chr22:32936800-32941400	Weak transcription	HepG2	liver
28	chr22:32936800-32942000	Weak transcription	Liver	Liver
29	chr22:32937200-32938000	Enhancers	Fetal Muscle Trunk	muscle
30	chr22:32937200-32939600	Enhancers	Ovary	ovary
31	chr22:32937200-32939800	Enhancers	Left Ventricle	heart
32	chr22:32937200-32940000	Enhancers	Right Atrium	heart
33	chr22:32937200-32942000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr22:32937400-32941400	Weak transcription	Hela-S3	cervix
35	chr22:32937600-32938200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr22:32937600-32939800	Enhancers	Lung	lung

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