Variant report

Variant	rs7516561
Chromosome Location	chr1:210850912-210850913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210847848..210849645-chr1:210850888..210853142,2	K562	blood:
2	chr1:210849903..210852743-chr1:210867034..210869915,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12024118	0.90[YRI][hapmap]
rs12040372	0.84[JPT][hapmap]
rs12048359	0.86[CHB][hapmap]
rs12401476	1.00[EUR][1000 genomes]
rs12401932	1.00[EUR][1000 genomes]
rs12402520	1.00[EUR][1000 genomes]
rs17016714	1.00[EUR][1000 genomes]
rs17016743	1.00[EUR][1000 genomes]
rs17016759	1.00[EUR][1000 genomes]
rs1890842	0.95[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4366378	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951543	0.86[CHB][hapmap]
rs57937741	1.00[EUR][1000 genomes]
rs60115516	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6665545	0.84[JPT][hapmap]
rs6680517	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7519466	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	esv1825229	chr1:210789477-210854976	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
3	nsv873150	chr1:210808270-210893233	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv873152	chr1:210820285-210854815	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210829000-210853400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:210835400-210863200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:210837800-210854200	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:210837800-210859800	Weak transcription	Right Ventricle	heart
5	chr1:210838000-210880400	Weak transcription	Gastric	stomach
6	chr1:210843600-210855800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:210843800-210857400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:210845000-210857000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:210845400-210853800	Weak transcription	Fetal Stomach	stomach
10	chr1:210845400-210866000	Weak transcription	Spleen	Spleen
11	chr1:210845800-210857600	Weak transcription	Fetal Intestine Small	intestine
12	chr1:210846000-210865600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:210846200-210862400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:210846200-210865800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:210846400-210855600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:210846400-210884600	Weak transcription	Ovary	ovary
17	chr1:210847000-210860200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:210847400-210854200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:210847600-210862200	Weak transcription	Brain Angular Gyrus	brain
20	chr1:210847800-210857200	Weak transcription	Aorta	Aorta
21	chr1:210848400-210857000	Strong transcription	HSMM	muscle
22	chr1:210849800-210853400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:210850000-210852600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:210850000-210857000	Weak transcription	Pancreas	Pancrea
25	chr1:210850200-210852200	Weak transcription	HSMMtube	muscle

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