Variant report

Variant	rs4838599
Chromosome Location	chr10:49679689-49679690
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr10:49678889-49679749	K562	blood:	n/a	n/a
2	POLR2A	chr10:49676024-49679787	K562	blood:	n/a	n/a
3	MAX	chr10:49678110-49679689	K562	blood:	n/a	n/a
4	TBL1XR1	chr10:49678172-49679720	K562	blood:	n/a	n/a
5	FOS	chr10:49679367-49679776	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr10:49679372-49679760	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr10:49679481-49679771	IMR90	lung:	n/a	n/a
8	EP300	chr10:49677951-49679790	K562	blood:	n/a	n/a
9	POLR2A	chr10:49676135-49679814	K562	blood:	n/a	n/a
10	CBX3	chr10:49678932-49679960	K562	blood:	n/a	n/a
11	BHLHE40	chr10:49679261-49679734	K562	blood:	n/a	n/a
12	IRF1	chr10:49678101-49679858	K562	blood:	n/a	chr10:49679312-49679326
13	MAFK	chr10:49677359-49679863	K562	blood:	n/a	n/a
14	POLR2A	chr10:49675855-49679748	K562	blood:	n/a	n/a
15	CUX1	chr10:49679301-49679873	K562	blood:	n/a	n/a
16	JUND	chr10:49677370-49679695	K562	blood:	n/a	chr10:49678975-49678987
17	FOS	chr10:49679367-49679777	MCF10A-Er-Src	breast:	n/a	n/a
18	MAFK	chr10:49679348-49679717	IMR90	lung:	n/a	n/a
19	POLR2A	chr10:49679110-49679885	U87	brain:	n/a	n/a
20	GATA1	chr10:49676752-49680318	K562	blood:	n/a	chr10:49678382-49678389 chr10:49678473-49678483 chr10:49678138-49678154 chr10:49678138-49678154
21	RCOR1	chr10:49677151-49679904	K562	blood:	n/a	n/a
22	MYC	chr10:49679171-49679727	K562	blood:	n/a	n/a
23	MYC	chr10:49679395-49679718	MCF10A-Er-Src	breast:	n/a	n/a
24	MAZ	chr10:49677952-49679865	K562	blood:	n/a	n/a
25	POLR2A	chr10:49679183-49679885	U87	brain:	n/a	n/a
26	RCOR1	chr10:49679518-49679873	K562	blood:	n/a	n/a
27	FOS	chr10:49679382-49679748	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr10:49679393-49679710	MCF10A-Er-Src	breast:	n/a	n/a
29	NR2F2	chr10:49677527-49679744	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:49679191..49679816-chr10:49714272..49714777,2	K562	blood:
2	chr10:49646827..49648798-chr10:49677849..49680976,3	K562	blood:
3	chr10:49620234..49623060-chr10:49677590..49681287,3	K562	blood:
4	chr10:49677142..49679992-chr10:49728038..49732327,4	K562	blood:
5	chr10:49677417..49680316-chr10:49708989..49711504,2	K562	blood:
6	chr10:49602827..49604920-chr10:49676681..49679745,3	K562	blood:

No data

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

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	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1822860	0.85[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]
rs74130282	1.00[EUR][1000 genomes]
rs7478027	1.00[EUR][1000 genomes]
rs754368	0.89[AMR][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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49671000-49680400	Enhancers	Primary hematopoietic stem cells	blood
2	chr10:49672400-49683400	Weak transcription	Spleen	Spleen
3	chr10:49672600-49681800	Weak transcription	Aorta	Aorta
4	chr10:49673000-49681200	Weak transcription	HSMM	muscle
5	chr10:49675000-49679800	Enhancers	Fetal Thymus	thymus
6	chr10:49675200-49680000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr10:49675200-49680000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr10:49675600-49679800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr10:49676000-49679800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr10:49676000-49680200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:49676200-49679800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr10:49676200-49681600	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr10:49676800-49680000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:49676800-49680200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:49676800-49680400	Enhancers	NHEK	skin
16	chr10:49677000-49680800	Enhancers	HMEC	breast
17	chr10:49677200-49680200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr10:49677400-49679800	Enhancers	Brain Hippocampus Middle	brain
19	chr10:49677400-49680000	Enhancers	Esophagus	oesophagus
20	chr10:49677600-49679800	Enhancers	Brain Substantia Nigra	brain
21	chr10:49677600-49679800	Enhancers	HUVEC	blood vessel
22	chr10:49677800-49679800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:49678200-49679800	Enhancers	NH-A	brain
24	chr10:49678200-49687200	Weak transcription	HSMMtube	muscle
25	chr10:49678400-49681000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr10:49678400-49683800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr10:49678800-49680000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:49678800-49684000	Weak transcription	Placenta	Placenta
29	chr10:49678800-49684200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr10:49678800-49684200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr10:49678800-49684200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:49678800-49684200	Weak transcription	Right Atrium	heart
33	chr10:49679000-49680000	Enhancers	Osteobl	bone
34	chr10:49679000-49683800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr10:49679000-49683800	Weak transcription	Fetal Stomach	stomach
36	chr10:49679000-49684200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr10:49679000-49684400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr10:49679200-49679800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:49679200-49680400	Genic enhancers	K562	blood
40	chr10:49679200-49682000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr10:49679200-49690400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr10:49679400-49679800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr10:49679400-49679800	Enhancers	NHDF-Ad	bronchial
44	chr10:49679400-49679800	Genic enhancers	NHLF	lung
45	chr10:49679400-49684000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr10:49679400-49686200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr10:49679600-49679800	Enhancers	Brain Cingulate Gyrus	brain
48	chr10:49679600-49681200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr10:49679600-49682000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr10:49679600-49683800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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