Variant report

Variant	rs757653
Chromosome Location	chr14:73006498-73006499
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1468334	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2238171	0.84[JPT][hapmap]
rs2238175	0.85[JPT][hapmap]
rs2238176	0.85[JPT][hapmap]
rs3784044	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7161138	1.00[JPT][hapmap]
rs7161351	1.00[JPT][hapmap]
rs757654	0.84[JPT][hapmap]
rs8009343	0.86[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv1843592	chr14:72967991-73007547	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72984400-73011000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:72999400-73009600	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:73000200-73010000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:73000200-73010000	Weak transcription	Right Ventricle	heart
5	chr14:73000800-73007800	Enhancers	Primary B cells from peripheral blood	blood
6	chr14:73002200-73009800	Weak transcription	Brain Substantia Nigra	brain
7	chr14:73003000-73010800	Weak transcription	Fetal Brain Female	brain
8	chr14:73003400-73011000	Weak transcription	Spleen	Spleen
9	chr14:73004200-73007000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:73004200-73009800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:73005200-73007800	Enhancers	Fetal Stomach	stomach
12	chr14:73005400-73007400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr14:73005400-73007600	Enhancers	Fetal Muscle Leg	muscle
14	chr14:73005600-73006600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:73005800-73007200	Enhancers	Fetal Thymus	thymus
16	chr14:73006000-73007000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr14:73006000-73007600	Enhancers	Primary B cells from cord blood	blood
18	chr14:73006200-73006600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:73006200-73006800	Enhancers	Fetal Brain Male	brain
20	chr14:73006200-73007200	Enhancers	Primary hematopoietic stem cells	blood
21	chr14:73006200-73007200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:73006200-73007200	Active TSS	Stomach Smooth Muscle	stomach
23	chr14:73006200-73007600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr14:73006200-73010200	Weak transcription	Fetal Intestine Large	intestine
25	chr14:73006400-73006600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
26	chr14:73006400-73006600	Flanking Active TSS	Ovary	ovary
27	chr14:73006400-73007200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr14:73006400-73007400	Enhancers	Fetal Lung	lung

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