Variant report

Variant	rs60450739
Chromosome Location	chr3:140781233-140781234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:140779965..140781663-chr3:140785163..140787679,2	K562	blood:

Variant related genes	Relation type
ENSG00000175093	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11914783	1.00[EUR][1000 genomes]
rs11914819	1.00[EUR][1000 genomes]
rs11918339	1.00[EUR][1000 genomes]
rs11922466	1.00[EUR][1000 genomes]
rs59373674	1.00[EUR][1000 genomes]
rs59512502	1.00[AMR][1000 genomes]
rs59995199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60226518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60931350	1.00[EUR][1000 genomes]
rs6809141	1.00[EUR][1000 genomes]
rs6810078	1.00[EUR][1000 genomes]
rs72978075	1.00[EUR][1000 genomes]
rs7623527	1.00[EUR][1000 genomes]
rs7632283	1.00[EUR][1000 genomes]
rs7632369	1.00[EUR][1000 genomes]
rs7635077	1.00[EUR][1000 genomes]
rs7642476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7645127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7651635	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv432488	chr3:140752302-140790302	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140772000-140782600	Weak transcription	Psoas Muscle	Psoas
2	chr3:140775800-140784200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:140776000-140783400	Weak transcription	Right Atrium	heart
4	chr3:140776000-140787600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr3:140776600-140787200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:140777400-140782600	Weak transcription	Fetal Kidney	kidney
7	chr3:140777400-140795000	Weak transcription	Fetal Brain Female	brain
8	chr3:140777600-140782800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr3:140777600-140785200	Weak transcription	Brain Germinal Matrix	brain
10	chr3:140777600-140789600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:140777800-140782800	Weak transcription	Right Ventricle	heart
12	chr3:140778000-140784800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:140778400-140782200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:140778400-140783000	Weak transcription	Fetal Stomach	stomach
15	chr3:140778600-140782600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:140779000-140785400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:140779200-140782400	Weak transcription	Fetal Muscle Leg	muscle
18	chr3:140779200-140782600	Weak transcription	Pancreas	Pancrea
19	chr3:140779400-140782400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:140779400-140782600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:140779400-140785400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:140779400-140788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:140779600-140781800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:140779600-140788200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr3:140779800-140782000	Weak transcription	Fetal Heart	heart
26	chr3:140779800-140782000	Weak transcription	Fetal Lung	lung
27	chr3:140779800-140782600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr3:140780800-140782200	Enhancers	Dnd41	blood
29	chr3:140781200-140781800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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