Variant report

Variant	rs2239222
Chromosome Location	chr14:73011885-73011886
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	chr14:72980402..72983329-chr14:73011655..73014017,2	K562	blood:
2	chr14:73004202..73006328-chr14:73010940..73013710,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2283371	0.89[ASW][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2283374	0.83[JPT][hapmap]
rs7141877	0.83[CHB][hapmap]

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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2239222	SLC8A3	cis	cerebellum	SCAN
rs2239222	DCAF5	cis	cerebellum	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:73009000-73016400	Enhancers	HSMMtube	muscle
2	chr14:73009400-73015600	Enhancers	HSMM	muscle
3	chr14:73009600-73016800	Enhancers	Fetal Muscle Leg	muscle
4	chr14:73009800-73012400	Enhancers	Fetal Stomach	stomach
5	chr14:73009800-73013800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:73009800-73014800	Enhancers	Fetal Muscle Trunk	muscle
7	chr14:73009800-73015000	Enhancers	Primary B cells from peripheral blood	blood
8	chr14:73010000-73012800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:73010000-73012800	Enhancers	Fetal Lung	lung
10	chr14:73010000-73013600	Enhancers	Liver	Liver
11	chr14:73010000-73015400	Enhancers	Fetal Brain Male	brain
12	chr14:73010200-73012400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr14:73010200-73012400	Enhancers	Placenta	Placenta
14	chr14:73010200-73014400	Enhancers	Primary B cells from cord blood	blood
15	chr14:73010400-73012400	Weak transcription	Fetal Thymus	thymus
16	chr14:73010600-73012600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr14:73010600-73014800	Enhancers	Right Ventricle	heart
18	chr14:73010800-73012000	Enhancers	Fetal Kidney	kidney
19	chr14:73010800-73012200	Enhancers	Brain Cingulate Gyrus	brain
20	chr14:73010800-73012400	Enhancers	Brain Hippocampus Middle	brain
21	chr14:73010800-73012800	Enhancers	Esophagus	oesophagus
22	chr14:73010800-73012800	Enhancers	Ovary	ovary
23	chr14:73010800-73013000	Enhancers	NHEK	skin
24	chr14:73010800-73013200	Enhancers	HMEC	breast
25	chr14:73010800-73013600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr14:73010800-73013800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr14:73010800-73013800	Enhancers	Fetal Brain Female	brain
28	chr14:73011000-73012000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr14:73011000-73012200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr14:73011000-73012200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr14:73011000-73012200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:73011000-73012200	Enhancers	Brain Angular Gyrus	brain
33	chr14:73011000-73012200	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr14:73011000-73012200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:73011000-73012600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:73011000-73012800	Enhancers	Spleen	Spleen
37	chr14:73011000-73013000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:73011000-73013000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:73011000-73013800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr14:73011200-73012000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr14:73011200-73012000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:73011200-73012000	Enhancers	Brain Substantia Nigra	brain
43	chr14:73011200-73012000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr14:73011200-73012200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr14:73011200-73012200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr14:73011200-73012200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:73011200-73012200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr14:73011200-73012200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:73011200-73012200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:73011200-73012200	Enhancers	Adipose Nuclei	Adipose

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