Variant report

Variant	rs11252182
Chromosome Location	chr10:3950854-3950855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:3943386..3944903-chr10:3950583..3952651,2	K562	blood:
2	chr10:3826191..3830433-chr10:3947497..3951989,7	K562	blood:
3	chr10:3827895..3829619-chr10:3948205..3951989,3	K562	blood:
4	chr10:3946432..3948404-chr10:3950580..3952168,2	K562	blood:
5	chr10:3939882..3942711-chr10:3949537..3951259,2	K562	blood:

Variant related genes	Relation type
ENSG00000067082	Chromatin interaction

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

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

rs_ID	r²[population]
rs11252183	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12248638	1.00[EUR][1000 genomes]
rs12260763	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12267456	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59115621	1.00[EUR][1000 genomes]
rs61367393	1.00[EUR][1000 genomes]
rs74114000	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	nsv1043680	chr10:3551191-4038002	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv1051297	chr10:3908706-4277678	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:3928200-3981400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:3945600-3951400	Weak transcription	Right Atrium	heart
3	chr10:3945600-3953400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:3947000-3954200	Weak transcription	Left Ventricle	heart
5	chr10:3947200-3951400	Weak transcription	Right Ventricle	heart
6	chr10:3948800-3952200	Enhancers	Fetal Muscle Leg	muscle
7	chr10:3949200-3953400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr10:3949800-3951400	Weak transcription	Psoas Muscle	Psoas
9	chr10:3949800-3953400	Weak transcription	Colon Smooth Muscle	Colon
10	chr10:3949800-3954000	Weak transcription	HSMM	muscle
11	chr10:3949800-3954200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr10:3950000-3951000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr10:3950000-3951600	Weak transcription	Esophagus	oesophagus
14	chr10:3950000-3953400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr10:3950000-3953400	Weak transcription	HepG2	liver
16	chr10:3950000-3953600	Weak transcription	Placenta	Placenta
17	chr10:3950000-3953800	Weak transcription	Fetal Lung	lung
18	chr10:3950000-3957000	Weak transcription	Lung	lung
19	chr10:3950200-3951400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr10:3950200-3951400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr10:3950200-3953200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr10:3950200-3953600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:3950200-3957000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:3950400-3951600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr10:3950400-3953600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:3950600-3952600	Weak transcription	NHLF	lung
27	chr10:3950600-3953800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr10:3950800-3951400	Enhancers	Skeletal Muscle Male	skeletal muscle

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