Variant report

Variant	rs12069197
Chromosome Location	chr1:183974443-183974444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:183971472..183974918-chr1:183978540..183982820,5	K562	blood:
2	chr1:183971721..183974918-chr1:183978540..183981272,3	K562	blood:
3	chr1:183971073..183972712-chr1:183973547..183976840,3	K562	blood:
4	chr1:183972816..183975715-chr17:7485961..7488756,2	K562	blood:
5	chr1:183967387..183970821-chr1:183971307..183974997,4	K562	blood:

Variant related genes	Relation type
ENSG00000129255	Chromatin interaction
ENSG00000233223	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10752927	0.85[ASN][1000 genomes]
rs10797925	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10797926	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10797927	0.85[ASN][1000 genomes]
rs10797928	0.85[ASN][1000 genomes]
rs10797929	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10797930	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10797932	0.94[ASN][1000 genomes]
rs10911477	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10911480	0.85[ASN][1000 genomes]
rs10911481	0.85[ASN][1000 genomes]
rs10911482	0.85[ASN][1000 genomes]
rs10911483	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10911484	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10911485	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911486	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12021841	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12023778	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12027096	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12028482	0.85[ASN][1000 genomes]
rs12030903	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12030924	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034897	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034962	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12042354	0.85[ASN][1000 genomes]
rs12044468	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12059407	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12060999	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12061041	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12064779	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12085344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1475402	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861859	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1887282	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1887283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1926866	0.85[ASN][1000 genomes]
rs1926867	0.83[ASN][1000 genomes]
rs1926868	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1998926	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2025807	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2148672	0.85[ASN][1000 genomes]
rs2148678	0.84[ASN][1000 genomes]
rs2182623	0.85[ASN][1000 genomes]
rs2182624	0.85[ASN][1000 genomes]
rs3930248	0.85[ASN][1000 genomes]
rs6662690	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6698329	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6701930	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7410829	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs751410	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv533206	chr1:183861204-184091272	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv872583	chr1:183955574-184015663	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:183970800-183974600	Enhancers	Brain Hippocampus Middle	brain
2	chr1:183971000-183975000	Enhancers	Brain Anterior Caudate	brain
3	chr1:183971200-183974600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr1:183971600-183977600	Weak transcription	Gastric	stomach
5	chr1:183971600-183978800	Weak transcription	Right Ventricle	heart
6	chr1:183972000-183975000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:183972400-183983000	Weak transcription	NHDF-Ad	bronchial
8	chr1:183972600-183975200	Enhancers	Brain Cingulate Gyrus	brain
9	chr1:183972600-183975800	Weak transcription	Left Ventricle	heart
10	chr1:183972600-183976200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:183972600-183980600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:183972600-183987800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:183973800-183974600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:183973800-183974800	Enhancers	Brain Angular Gyrus	brain
15	chr1:183973800-183975000	Enhancers	Fetal Muscle Leg	muscle
16	chr1:183973800-183975600	Enhancers	K562	blood
17	chr1:183974200-183975000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:183974200-183975000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:183974200-183975600	Enhancers	Fetal Muscle Trunk	muscle
20	chr1:183974200-183977000	Enhancers	Brain Substantia Nigra	brain

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