Variant report

Variant	rs12246580
Chromosome Location	chr10:50139627-50139628
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50134544..50136847-chr10:50137710..50140535,2	K562	blood:
2	chr10:50131861..50135553-chr10:50138242..50140139,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12245002	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12255560	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1877803	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2377695	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2663023	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2663025	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2663048	1.00[CEU][hapmap]
rs2663059	1.00[CEU][hapmap]
rs2671703	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2671704	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2671705	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2671706	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4261205	1.00[EUR][1000 genomes]
rs7393385	1.00[CEU][hapmap]
rs74133038	1.00[EUR][1000 genomes]
rs74133040	1.00[EUR][1000 genomes]
rs74133041	1.00[EUR][1000 genomes]
rs7920772	1.00[CEU][hapmap];1.00[EUR][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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831865	chr10:49994254-50164239	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr10:50121000-50155800	Weak transcription	Primary T cells from cord blood	blood
2	chr10:50125400-50154400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr10:50127800-50147000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr10:50127800-50150400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr10:50127800-50150600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:50130200-50143000	Strong transcription	Primary B cells from peripheral blood	blood
7	chr10:50130800-50143600	Strong transcription	Primary B cells from cord blood	blood
8	chr10:50134600-50141000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr10:50134600-50160400	Weak transcription	Right Atrium	heart
10	chr10:50135400-50149800	Weak transcription	Spleen	Spleen
11	chr10:50135600-50145800	Weak transcription	GM12878-XiMat	blood
12	chr10:50136200-50141000	Weak transcription	Fetal Muscle Leg	muscle
13	chr10:50138600-50145400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr10:50139000-50140000	Enhancers	Fetal Lung	lung
15	chr10:50139000-50142000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr10:50139200-50140000	Enhancers	Lung	lung
17	chr10:50139400-50140000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr10:50139600-50140800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:50139600-50141400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr10:50139600-50142800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:50139600-50142800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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