Variant report

Variant	rs12583339
Chromosome Location	chr13:96190836-96190837
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	chr13:96190182..96191726-chr13:96328534..96331216,2	K562	blood:

Variant related genes	Relation type
ENSG00000247400	Chromatin interaction
ENSG00000102580	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12585702	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17235306	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277421	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35195129	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71433089	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9556488	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9561897	0.87[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	nsv900933	chr13:96138087-96215289	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96183000-96192800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr13:96186400-96193000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:96188000-96193200	Weak transcription	Esophagus	oesophagus
4	chr13:96188000-96193200	Weak transcription	Psoas Muscle	Psoas
5	chr13:96188000-96199600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:96188200-96193000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:96188200-96193000	Weak transcription	HSMM	muscle
8	chr13:96188200-96193200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:96188200-96193200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:96188400-96198800	Weak transcription	Hela-S3	cervix
11	chr13:96189000-96192800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:96189000-96192800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr13:96189000-96193200	Weak transcription	HUVEC	blood vessel
14	chr13:96189400-96192800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr13:96189400-96192800	Weak transcription	HSMMtube	muscle
16	chr13:96189400-96193200	Weak transcription	Fetal Lung	lung
17	chr13:96189600-96192600	Weak transcription	Fetal Muscle Leg	muscle
18	chr13:96189600-96198800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr13:96189800-96193000	Weak transcription	Fetal Kidney	kidney
20	chr13:96189800-96193000	Weak transcription	A549	lung
21	chr13:96189800-96193200	Weak transcription	Brain Anterior Caudate	brain
22	chr13:96189800-96199000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr13:96190200-96192400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr13:96190200-96192600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr13:96190600-96191200	Enhancers	Pancreas	Pancrea
26	chr13:96190800-96191000	Enhancers	Cortex derived primary cultured neurospheres	brain

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