Variant report

Variant	rs12022162
Chromosome Location	chr1:45161845-45161846
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45158895..45163540-chr1:45164088..45166944,4	K562	blood:
2	chr1:45153861..45158465-chr1:45159591..45163937,5	K562	blood:

Variant related genes	Relation type
ENSG00000198520	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11211021	0.90[JPT][hapmap];0.83[YRI][hapmap]
rs270729	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
6	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12022162	ZNF684	cis	cerebellum	SCAN
rs12022162	CCDC24	cis	cerebellum	SCAN
rs12022162	FOXD2	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45141200-45164400	Weak transcription	Fetal Brain Female	brain
2	chr1:45143600-45171800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:45146000-45172400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:45149400-45166000	Weak transcription	Liver	Liver
5	chr1:45158800-45164800	Enhancers	GM12878-XiMat	blood
6	chr1:45159200-45172800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:45159800-45162600	Weak transcription	Brain Anterior Caudate	brain
8	chr1:45160000-45162000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:45160200-45164600	Enhancers	Primary B cells from cord blood	blood
10	chr1:45160400-45164800	Enhancers	Primary B cells from peripheral blood	blood
11	chr1:45160800-45164400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:45161200-45173800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:45161600-45162400	Enhancers	Primary T cells from cord blood	blood
14	chr1:45161600-45163600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr1:45161600-45164200	Enhancers	Primary hematopoietic stem cells	blood
16	chr1:45161600-45164800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:45161800-45162000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr1:45161800-45162200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:45161800-45162400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:45161800-45162600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr1:45161800-45162800	Weak transcription	HepG2	liver
22	chr1:45161800-45163400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr1:45161800-45163400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr1:45161800-45163600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:45161800-45163600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr1:45161800-45163600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr1:45161800-45164200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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