Variant report

Variant	rs242069
Chromosome Location	chr22:33241769-33241770
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	chr22:33240468..33242609-chr22:33255159..33257901,2	MCF-7	breast:
2	chr22:33012442..33014400-chr22:33241656..33243487,2	K562	blood:

Variant related genes	Relation type
ENSG00000183531	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs137487	0.82[CHB][hapmap]
rs137489	0.87[CHB][hapmap];0.83[MEX][hapmap]
rs137494	0.87[CHB][hapmap];0.87[MEX][hapmap]
rs137495	0.87[CHB][hapmap]
rs241890	0.88[ASW][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.81[LWK][hapmap];0.80[MEX][hapmap]
rs9862	0.91[CHB][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	nsv3599	chr22:33230106-33274789	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs242069	PIK3IP1	cis	cerebellum	SCAN
rs242069	C22orf31	cis	cerebellum	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33217800-33248600	Weak transcription	Gastric	stomach
2	chr22:33222600-33258800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr22:33227000-33272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr22:33227600-33248800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr22:33227600-33249400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr22:33227800-33252200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:33227800-33253200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr22:33228000-33245000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:33228000-33252200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:33228000-33252600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr22:33231200-33245400	Weak transcription	NHLF	lung
12	chr22:33232400-33245600	Weak transcription	HSMMtube	muscle
13	chr22:33235200-33243800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr22:33235600-33245200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr22:33235800-33241800	Weak transcription	Colonic Mucosa	Colon
16	chr22:33236200-33241800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr22:33236200-33241800	Strong transcription	Osteobl	bone
18	chr22:33236200-33245600	Weak transcription	Aorta	Aorta
19	chr22:33236200-33253800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:33236200-33259000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:33236400-33244200	Enhancers	Right Atrium	heart
22	chr22:33237000-33242600	Weak transcription	Ovary	ovary
23	chr22:33237000-33245600	Weak transcription	Fetal Intestine Small	intestine
24	chr22:33237400-33245600	Weak transcription	Fetal Intestine Large	intestine
25	chr22:33237400-33282200	Weak transcription	Fetal Brain Female	brain
26	chr22:33237600-33242200	Weak transcription	Fetal Lung	lung
27	chr22:33237800-33242000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr22:33238400-33259200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr22:33238600-33242000	Enhancers	Fetal Heart	heart
30	chr22:33238600-33242600	Weak transcription	Fetal Kidney	kidney
31	chr22:33238800-33244800	Weak transcription	NH-A	brain
32	chr22:33239000-33242400	Weak transcription	NHEK	skin
33	chr22:33239000-33245600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr22:33239000-33246200	Weak transcription	NHDF-Ad	bronchial
35	chr22:33239000-33248800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr22:33239200-33243400	Enhancers	Brain Anterior Caudate	brain
37	chr22:33239200-33248400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr22:33239600-33242200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr22:33239600-33243200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr22:33239600-33245600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr22:33239800-33242000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:33239800-33245400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr22:33239800-33245400	Weak transcription	Spleen	Spleen
44	chr22:33240200-33242000	Genic enhancers	Stomach Smooth Muscle	stomach
45	chr22:33240200-33242600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr22:33240200-33245000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr22:33240200-33245600	Weak transcription	Brain Angular Gyrus	brain
48	chr22:33240600-33242200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr22:33240800-33244800	Enhancers	Adipose Nuclei	Adipose
50	chr22:33241000-33252800	Weak transcription	H1 Cell Line	embryonic stem cell

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