Variant report

Variant	rs10857576
Chromosome Location	chr10:49677673-49677674
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

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	CBX3	chr10:49677359-49678880	K562	blood:	n/a	n/a
4	TEAD4	chr10:49677611-49679150	K562	blood:	n/a	n/a
5	HEY1	chr10:49677298-49678973	K562	blood:	n/a	chr10:49677684-49677699
6	POLR2A	chr10:49676135-49679814	K562	blood:	n/a	n/a
7	MAZ	chr10:49676132-49677697	K562	blood:	n/a	n/a
8	STAT5A	chr10:49677650-49678749	K562	blood:	n/a	chr10:49678444-49678456
9	MAFK	chr10:49677359-49679863	K562	blood:	n/a	n/a
10	POLR2A	chr10:49675855-49679748	K562	blood:	n/a	n/a
11	HMGN3	chr10:49677288-49678651	K562	blood:	n/a	n/a
12	JUND	chr10:49677370-49679695	K562	blood:	n/a	chr10:49678975-49678987
13	RCOR1	chr10:49677146-49678657	K562	blood:	n/a	n/a
14	PML	chr10:49677571-49678737	K562	blood:	n/a	n/a
15	GATA1	chr10:49676752-49680318	K562	blood:	n/a	chr10:49678382-49678389 chr10:49678473-49678483 chr10:49678138-49678154 chr10:49678138-49678154
16	POLR2A	chr10:49677473-49679175	K562	blood:	n/a	n/a
17	ZC3H11A	chr10:49677652-49679130	K562	blood:	n/a	n/a
18	RCOR1	chr10:49677151-49679904	K562	blood:	n/a	n/a
19	POLR2A	chr10:49677420-49678589	NB4	blood:	n/a	n/a
20	POLR2A	chr10:49677640-49678695	K562	blood:	n/a	n/a
21	POLR2A	chr10:49677307-49679553	K562	blood:	n/a	n/a
22	POLR2A	chr10:49676729-49678909	K562	blood:	n/a	n/a
23	POLR2A	chr10:49676868-49679152	K562	blood:	n/a	n/a
24	HCFC1	chr10:49677665-49678634	K562	blood:	n/a	n/a
25	POLR2A	chr10:49677335-49679142	K562	blood:	n/a	n/a
26	NR2F2	chr10:49677527-49679744	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

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	chr10:49677142..49679295-chr10:49729863..49732327,2	K562	blood:
4	chr10:49677603..49679164-chr10:49733692..49735615,2	K562	blood:
5	chr10:49620234..49623060-chr10:49677590..49681287,3	K562	blood:
6	chr10:49677142..49679992-chr10:49728038..49732327,4	K562	blood:
7	chr10:49677417..49680316-chr10:49708989..49711504,2	K562	blood:
8	chr10:49602827..49604920-chr10:49676681..49679745,3	K562	blood:
9	chr10:49640741..49644596-chr10:49677175..49679458,3	K562	blood:

(count:1 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ARHGAP22	TF binding region
ENSG00000107643	Chromatin interaction
ENSG00000128805	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10857575	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11101332	0.87[EUR][1000 genomes]
rs11101334	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11101335	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12766232	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12784663	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1867578	0.89[EUR][1000 genomes]
rs2034199	0.87[EUR][1000 genomes]
rs4342982	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4838595	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4838596	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4838600	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][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:64 , 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	chr10:49671000-49680400	Enhancers	Primary hematopoietic stem cells	blood
3	chr10:49672400-49683400	Weak transcription	Spleen	Spleen
4	chr10:49672600-49681800	Weak transcription	Aorta	Aorta
5	chr10:49673000-49681200	Weak transcription	HSMM	muscle
6	chr10:49675000-49678000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:49675000-49678400	Weak transcription	Right Atrium	heart
8	chr10:49675000-49679800	Enhancers	Fetal Thymus	thymus
9	chr10:49675200-49677800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:49675200-49677800	Weak transcription	Left Ventricle	heart
11	chr10:49675200-49677800	Weak transcription	Right Ventricle	heart
12	chr10:49675200-49678200	Weak transcription	Brain Anterior Caudate	brain
13	chr10:49675200-49678200	Weak transcription	NH-A	brain
14	chr10:49675200-49678400	Strong transcription	Osteobl	bone
15	chr10:49675200-49678800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:49675200-49679400	Enhancers	Fetal Intestine Large	intestine
17	chr10:49675200-49680000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr10:49675200-49680000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr10:49675400-49677800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr10:49675400-49678200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr10:49675600-49679800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr10:49676000-49678600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr10:49676000-49679000	Enhancers	Fetal Intestine Small	intestine
24	chr10:49676000-49679800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr10:49676000-49680200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:49676200-49679600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:49676200-49679600	Enhancers	Ovary	ovary
28	chr10:49676200-49679800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr10:49676200-49681600	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr10:49676600-49677800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr10:49676600-49678200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:49676600-49678400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr10:49676800-49680000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr10:49676800-49680200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:49676800-49680400	Enhancers	NHEK	skin
36	chr10:49677000-49679400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:49677000-49679400	Strong transcription	NHLF	lung
38	chr10:49677000-49680800	Enhancers	HMEC	breast
39	chr10:49677200-49678200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr10:49677200-49680200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr10:49677400-49678200	Transcr. at gene 5' and 3'	K562	blood
42	chr10:49677400-49679200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:49677400-49679600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr10:49677400-49679800	Enhancers	Brain Hippocampus Middle	brain
45	chr10:49677400-49680000	Enhancers	Esophagus	oesophagus
46	chr10:49677600-49677800	Enhancers	Colon Smooth Muscle	Colon
47	chr10:49677600-49678000	Bivalent Enhancer	Fetal Stomach	stomach
48	chr10:49677600-49678200	Enhancers	HSMMtube	muscle
49	chr10:49677600-49678200	Weak transcription	NHDF-Ad	bronchial
50	chr10:49677600-49678400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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