Variant report

Variant	rs940338
Chromosome Location	chr3:61226761-61226762
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:61222187..61223963-chr3:61225868..61228655,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10510861	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11130832	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12054062	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17639546	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17639996	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17668266	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17668356	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17668477	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1916799	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876866	chr3:61054494-61310328	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv876867	chr3:61054494-61474575	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv432423	chr3:61100255-61606060	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer 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	nsv1000378	chr3:61103229-61238089	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv876868	chr3:61145050-61282503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv532626	chr3:61159646-61388418	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1008399	chr3:61176965-61461349	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr3:61220000-61230000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:61222600-61228000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:61222600-61232800	Weak transcription	Brain Angular Gyrus	brain
4	chr3:61223800-61228200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:61224000-61235200	Weak transcription	K562	blood
6	chr3:61224800-61234400	Weak transcription	GM12878-XiMat	blood
7	chr3:61225400-61227000	Enhancers	Psoas Muscle	Psoas
8	chr3:61225600-61227000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:61225600-61227000	Enhancers	Pancreas	Pancrea
10	chr3:61225600-61228600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr3:61225800-61226800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr3:61225800-61227000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:61225800-61227400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:61225800-61228800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:61226000-61226800	Weak transcription	Ovary	ovary
16	chr3:61226000-61228200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:61226000-61229000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:61226000-61232800	Weak transcription	Brain Anterior Caudate	brain
19	chr3:61226200-61227000	Weak transcription	Fetal Lung	lung
20	chr3:61226200-61228200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr3:61226200-61228800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr3:61226200-61232800	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:61226200-61235600	Weak transcription	Left Ventricle	heart
24	chr3:61226200-61235600	Weak transcription	Right Atrium	heart
25	chr3:61226200-61235800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:61226400-61227600	Weak transcription	Fetal Heart	heart
27	chr3:61226600-61228200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr3:61226600-61230600	Enhancers	HUES64 Cell Line	embryonic stem cell

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