Variant report

Variant	rs12250170
Chromosome Location	chr10:53017152-53017153
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10996321	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12257728	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61849745	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61849758	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7085126	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7085957	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7088380	0.97[EUR][1000 genomes]
rs7917098	0.80[AMR][1000 genomes];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	nsv1036645	chr10:52804961-53159076	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv831874	chr10:53010357-53195508	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53006800-53017600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr10:53010600-53017200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr10:53011200-53017200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr10:53012000-53017400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:53013000-53022800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr10:53015600-53017200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr10:53015600-53019200	Weak transcription	Psoas Muscle	Psoas
8	chr10:53015600-53022600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr10:53015800-53017200	Enhancers	Colon Smooth Muscle	Colon
10	chr10:53015800-53017200	Weak transcription	Fetal Muscle Leg	muscle
11	chr10:53016200-53021200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:53016600-53017600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr10:53016600-53018000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:53017000-53017200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:53017000-53017800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:53017000-53017800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr10:53017000-53017800	Enhancers	NHLF	lung
18	chr10:53017000-53017800	Enhancers	Osteobl	bone
19	chr10:53017000-53018000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr10:53017000-53018000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:53017000-53018400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr10:53017000-53018400	Enhancers	Aorta	Aorta
23	chr10:53017000-53018400	Enhancers	NHDF-Ad	bronchial
24	chr10:53017000-53019000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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