Variant report

Variant	rs61299139
Chromosome Location	chr14:73014061-73014062
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	chr14:73007241..73009547-chr14:73013161..73015257,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17117195	0.84[AFR][1000 genomes]
rs17117221	0.81[AFR][1000 genomes]
rs17117326	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61489880	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7146557	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No data

Chromatin state (count:40 , 50 per page) page: 1

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	chr14:73009800-73014800	Enhancers	Fetal Muscle Trunk	muscle
5	chr14:73009800-73015000	Enhancers	Primary B cells from peripheral blood	blood
6	chr14:73010000-73015400	Enhancers	Fetal Brain Male	brain
7	chr14:73010200-73014400	Enhancers	Primary B cells from cord blood	blood
8	chr14:73010600-73014800	Enhancers	Right Ventricle	heart
9	chr14:73011800-73016000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:73011800-73016400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr14:73012000-73025200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr14:73012200-73019000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:73012200-73019000	Weak transcription	Right Atrium	heart
14	chr14:73012200-73019600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:73012200-73019800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:73012200-73025600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:73012400-73016000	Weak transcription	Placenta	Placenta
18	chr14:73012400-73018600	Weak transcription	Fetal Stomach	stomach
19	chr14:73012400-73019600	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:73012400-73032000	Weak transcription	Brain Germinal Matrix	brain
21	chr14:73012600-73015800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:73012800-73015000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:73012800-73015000	Weak transcription	Fetal Lung	lung
24	chr14:73012800-73015400	Weak transcription	Spleen	Spleen
25	chr14:73012800-73015800	Weak transcription	NH-A	brain
26	chr14:73013000-73015600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:73013000-73015800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:73013200-73015200	Enhancers	Fetal Heart	heart
29	chr14:73013200-73017000	Weak transcription	HMEC	breast
30	chr14:73013400-73016800	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:73013800-73014400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:73013800-73015600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr14:73013800-73015800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:73013800-73016600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:73013800-73025000	Weak transcription	Fetal Brain Female	brain
36	chr14:73014000-73016000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:73014000-73016000	Weak transcription	Psoas Muscle	Psoas
38	chr14:73014000-73016600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr14:73014000-73019600	Weak transcription	Left Ventricle	heart
40	chr14:73014000-73020000	Weak transcription	Brain Angular Gyrus	brain

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