Variant report

Variant	rs62285480
Chromosome Location	chr3:99842798-99842799
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:99829489..99831303-chr3:99842573..99844567,2	K562	blood:
2	chr3:99832676..99835044-chr3:99842205..99844434,2	MCF-7	breast:
3	chr3:99840756..99842324-chr3:99842654..99845217,2	K562	blood:

Variant related genes	Relation type
ENSG00000184220	Chromatin interaction
ENSG00000168386	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13074029	0.89[EUR][1000 genomes]
rs13094890	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13096852	0.88[EUR][1000 genomes]
rs13098066	0.88[EUR][1000 genomes]
rs35074168	0.85[EUR][1000 genomes]
rs62285469	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62285476	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71313590	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7647466	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv869848	chr3:99652246-99904276	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv932634	chr3:99660690-99888854	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1010579	chr3:99660754-99901817	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1008483	chr3:99660754-99903769	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1010897	chr3:99660754-99904783	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1001529	chr3:99661758-99892654	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
9	nsv536665	chr3:99661758-99892654	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	nsv591148	chr3:99774720-99905803	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99795800-99866600	Weak transcription	Primary T cells from cord blood	blood
2	chr3:99825200-99844000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:99825200-99844200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:99826600-99862600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:99839000-99842800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:99839800-99843200	Weak transcription	Lung	lung
7	chr3:99840400-99844600	Enhancers	Fetal Muscle Leg	muscle
8	chr3:99840600-99843200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr3:99841000-99843800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:99841200-99843200	Weak transcription	Spleen	Spleen
11	chr3:99841200-99843400	Enhancers	Brain Cingulate Gyrus	brain
12	chr3:99841200-99843600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr3:99841200-99846000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:99841200-99846800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:99841400-99843000	Weak transcription	Fetal Intestine Small	intestine
16	chr3:99842000-99844000	Enhancers	Right Atrium	heart
17	chr3:99842000-99844200	Enhancers	Right Ventricle	heart
18	chr3:99842000-99844600	Enhancers	Psoas Muscle	Psoas
19	chr3:99842200-99843200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:99842200-99843800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:99842200-99843800	Enhancers	Ovary	ovary
22	chr3:99842200-99844800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr3:99842400-99843600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:99842400-99843600	Enhancers	Fetal Muscle Trunk	muscle
25	chr3:99842400-99844200	Enhancers	Aorta	Aorta
26	chr3:99842400-99844400	Enhancers	Fetal Heart	heart
27	chr3:99842400-99845200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:99842600-99843000	Enhancers	Fetal Lung	lung
29	chr3:99842600-99843000	Weak transcription	Left Ventricle	heart
30	chr3:99842600-99845000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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