Variant report

Variant	rs60262503
Chromosome Location	chr10:49677079-49677080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:49676024-49679787	K562	blood:	n/a	n/a
2	POLR2A	chr10:49677023-49679444	K562	blood:	n/a	n/a
3	POLR2A	chr10:49676135-49679814	K562	blood:	n/a	n/a
4	MAZ	chr10:49676132-49677697	K562	blood:	n/a	n/a
5	POLR2A	chr10:49675855-49679748	K562	blood:	n/a	n/a
6	BHLHE40	chr10:49676985-49677380	K562	blood:	n/a	n/a
7	GATA1	chr10:49676752-49680318	K562	blood:	n/a	chr10:49678382-49678389 chr10:49678473-49678483 chr10:49678138-49678154 chr10:49678138-49678154
8	POLR2A	chr10:49676729-49678909	K562	blood:	n/a	n/a
9	POLR2A	chr10:49676868-49679152	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:49676784..49678693-chr10:49717036..49719541,2	K562	blood:
2	chr10:49514501..49516513-chr10:49675847..49678293,2	K562	blood:
3	chr10:49602827..49604920-chr10:49676681..49679745,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FRMPD2-3	chr10:49676050-49677859	NONHSAT013272

Variant related genes	Relation type
ARHGAP22	TF binding region
ENSG00000107643	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11812546	0.83[ASN][1000 genomes]
rs3906889	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4080665	0.87[ASN][1000 genomes]
rs56342922	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56390836	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61838729	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61838734	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7069220	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7093726	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783089	0.97[ASN][1000 genomes]
rs72783093	0.80[ASN][1000 genomes]
rs72783094	0.89[ASN][1000 genomes]
rs72783101	0.89[ASN][1000 genomes]
rs73303077	0.87[ASN][1000 genomes]
rs7895980	0.83[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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS 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	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49655200-49677800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:49657800-49677600	Weak transcription	HSMMtube	muscle
3	chr10:49671000-49680400	Enhancers	Primary hematopoietic stem cells	blood
4	chr10:49672400-49677200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr10:49672400-49683400	Weak transcription	Spleen	Spleen
6	chr10:49672600-49681800	Weak transcription	Aorta	Aorta
7	chr10:49673000-49681200	Weak transcription	HSMM	muscle
8	chr10:49673600-49677600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:49675000-49678000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:49675000-49678400	Weak transcription	Right Atrium	heart
11	chr10:49675000-49679800	Enhancers	Fetal Thymus	thymus
12	chr10:49675200-49677400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:49675200-49677400	Weak transcription	Esophagus	oesophagus
14	chr10:49675200-49677600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:49675200-49677800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:49675200-49677800	Weak transcription	Left Ventricle	heart
17	chr10:49675200-49677800	Weak transcription	Right Ventricle	heart
18	chr10:49675200-49678200	Weak transcription	Brain Anterior Caudate	brain
19	chr10:49675200-49678200	Weak transcription	NH-A	brain
20	chr10:49675200-49678400	Strong transcription	Osteobl	bone
21	chr10:49675200-49678800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:49675200-49679400	Enhancers	Fetal Intestine Large	intestine
23	chr10:49675200-49680000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr10:49675200-49680000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr10:49675400-49677400	Weak transcription	Brain Hippocampus Middle	brain
26	chr10:49675400-49677600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr10:49675400-49677600	Weak transcription	Brain Substantia Nigra	brain
28	chr10:49675400-49677600	Weak transcription	HUVEC	blood vessel
29	chr10:49675400-49677800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr10:49675400-49678200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr10:49675600-49679800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr10:49676000-49678600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr10:49676000-49679000	Enhancers	Fetal Intestine Small	intestine
34	chr10:49676000-49679800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr10:49676000-49680200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr10:49676200-49677400	Flanking Active TSS	K562	blood
37	chr10:49676200-49679600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr10:49676200-49679600	Enhancers	Ovary	ovary
39	chr10:49676200-49679800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr10:49676200-49681600	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr10:49676400-49677600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr10:49676600-49677600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
43	chr10:49676600-49677600	Weak transcription	Fetal Kidney	kidney
44	chr10:49676600-49677800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr10:49676600-49678200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:49676600-49678400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr10:49676800-49677200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr10:49676800-49677400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr10:49676800-49680000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr10:49676800-49680200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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