Variant report

Variant	rs1822860
Chromosome Location	chr10:49677598-49677599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 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	HEY1	chr10:49677298-49678973	K562	blood:	n/a	chr10:49677684-49677699
5	POLR2A	chr10:49676135-49679814	K562	blood:	n/a	n/a
6	MAZ	chr10:49676132-49677697	K562	blood:	n/a	n/a
7	MAFK	chr10:49677359-49679863	K562	blood:	n/a	n/a
8	POLR2A	chr10:49675855-49679748	K562	blood:	n/a	n/a
9	HMGN3	chr10:49677288-49678651	K562	blood:	n/a	n/a
10	JUND	chr10:49677370-49679695	K562	blood:	n/a	chr10:49678975-49678987
11	RCOR1	chr10:49677146-49678657	K562	blood:	n/a	n/a
12	PML	chr10:49677571-49678737	K562	blood:	n/a	n/a
13	GATA1	chr10:49676752-49680318	K562	blood:	n/a	chr10:49678382-49678389 chr10:49678473-49678483 chr10:49678138-49678154 chr10:49678138-49678154
14	POLR2A	chr10:49677473-49679175	K562	blood:	n/a	n/a
15	RCOR1	chr10:49677151-49679904	K562	blood:	n/a	n/a
16	POLR2A	chr10:49677420-49678589	NB4	blood:	n/a	n/a
17	POLR2A	chr10:49677307-49679553	K562	blood:	n/a	n/a
18	POLR2A	chr10:49676729-49678909	K562	blood:	n/a	n/a
19	POLR2A	chr10:49676868-49679152	K562	blood:	n/a	n/a
20	POLR2A	chr10:49677335-49679142	K562	blood:	n/a	n/a
21	NR2F2	chr10:49677527-49679744	K562	blood:	n/a	n/a

No data

(count:8 , 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	chr10:49620234..49623060-chr10:49677590..49681287,3	K562	blood:
5	chr10:49677142..49679992-chr10:49728038..49732327,4	K562	blood:
6	chr10:49677417..49680316-chr10:49708989..49711504,2	K562	blood:
7	chr10:49602827..49604920-chr10:49676681..49679745,3	K562	blood:
8	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: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10745275	1.00[EUR][1000 genomes]
rs10776604	1.00[EUR][1000 genomes]
rs10776605	1.00[EUR][1000 genomes]
rs11101337	1.00[EUR][1000 genomes]
rs1814473	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1867574	1.00[EUR][1000 genomes]
rs1867575	1.00[EUR][1000 genomes]
rs3867448	1.00[EUR][1000 genomes]
rs3867450	1.00[EUR][1000 genomes]
rs4012794	1.00[EUR][1000 genomes]
rs4012795	1.00[EUR][1000 genomes]
rs4012801	1.00[EUR][1000 genomes]
rs4838599	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74130282	1.00[EUR][1000 genomes]
rs7478027	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: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	chr10:49672400-49683400	Weak transcription	Spleen	Spleen
5	chr10:49672600-49681800	Weak transcription	Aorta	Aorta
6	chr10:49673000-49681200	Weak transcription	HSMM	muscle
7	chr10:49673600-49677600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:49675000-49678000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:49675000-49678400	Weak transcription	Right Atrium	heart
10	chr10:49675000-49679800	Enhancers	Fetal Thymus	thymus
11	chr10:49675200-49677600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:49675200-49677800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr10:49675200-49677800	Weak transcription	Left Ventricle	heart
14	chr10:49675200-49677800	Weak transcription	Right Ventricle	heart
15	chr10:49675200-49678200	Weak transcription	Brain Anterior Caudate	brain
16	chr10:49675200-49678200	Weak transcription	NH-A	brain
17	chr10:49675200-49678400	Strong transcription	Osteobl	bone
18	chr10:49675200-49678800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:49675200-49679400	Enhancers	Fetal Intestine Large	intestine
20	chr10:49675200-49680000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:49675200-49680000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr10:49675400-49677600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr10:49675400-49677600	Weak transcription	Brain Substantia Nigra	brain
24	chr10:49675400-49677600	Weak transcription	HUVEC	blood vessel
25	chr10:49675400-49677800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr10:49675400-49678200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr10:49675600-49679800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr10:49676000-49678600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr10:49676000-49679000	Enhancers	Fetal Intestine Small	intestine
30	chr10:49676000-49679800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr10:49676000-49680200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:49676200-49679600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr10:49676200-49679600	Enhancers	Ovary	ovary
34	chr10:49676200-49679800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr10:49676200-49681600	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr10:49676400-49677600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr10:49676600-49677600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
38	chr10:49676600-49677600	Weak transcription	Fetal Kidney	kidney
39	chr10:49676600-49677800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr10:49676600-49678200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:49676600-49678400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr10:49676800-49680000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:49676800-49680200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr10:49676800-49680400	Enhancers	NHEK	skin
45	chr10:49677000-49677600	Enhancers	NHDF-Ad	bronchial
46	chr10:49677000-49679400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr10:49677000-49679400	Strong transcription	NHLF	lung
48	chr10:49677000-49680800	Enhancers	HMEC	breast
49	chr10:49677200-49678200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr10:49677200-49680200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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