Variant report

Variant	rs741290
Chromosome Location	chr12:68285142-68285143
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	chr12:68283910..68285989-chr12:68287422..68290067,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1905454	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1922656	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2077121	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2192783	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2192784	0.85[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs3014996	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3850591	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs734542	0.95[EUR][1000 genomes];0.83[ASN][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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68279400-68286000	Weak transcription	Aorta	Aorta
2	chr12:68281600-68286200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:68282600-68286000	Enhancers	Fetal Intestine Small	intestine
4	chr12:68282800-68286800	Weak transcription	Psoas Muscle	Psoas
5	chr12:68283000-68288000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:68283800-68286000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:68284400-68287600	Enhancers	Fetal Brain Male	brain
8	chr12:68284600-68285200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr12:68284600-68285200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr12:68284600-68285600	Weak transcription	HSMM	muscle
11	chr12:68284600-68286000	Enhancers	Primary T cells from cord blood	blood
12	chr12:68284600-68286600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:68284600-68287400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:68284600-68287800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr12:68284800-68285200	Weak transcription	Fetal Intestine Large	intestine
16	chr12:68284800-68285200	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:68284800-68285800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:68284800-68286000	Enhancers	Fetal Thymus	thymus
19	chr12:68284800-68286400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:68284800-68287200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:68284800-68288400	Enhancers	HSMMtube	muscle

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