Variant report

Variant	rs1814473
Chromosome Location	chr10:49679069-49679070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 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	POLR2A	chr10:49677023-49679444	K562	blood:	n/a	n/a
4	MAX	chr10:49678110-49679689	K562	blood:	n/a	n/a
5	CTCF	chr10:49679040-49679190	GM12873	blood:	n/a	n/a
6	TBL1XR1	chr10:49678172-49679720	K562	blood:	n/a	n/a
7	MAFF	chr10:49678940-49679114	K562	blood:	n/a	n/a
8	CTCF	chr10:49679020-49679170	HFF-Myc	foreskin:	n/a	n/a
9	ZNF384	chr10:49677940-49679483	K562	blood:	n/a	n/a
10	TEAD4	chr10:49677611-49679150	K562	blood:	n/a	n/a
11	EP300	chr10:49677951-49679790	K562	blood:	n/a	n/a
12	POLR2A	chr10:49676135-49679814	K562	blood:	n/a	n/a
13	CBX3	chr10:49678932-49679960	K562	blood:	n/a	n/a
14	IRF1	chr10:49678101-49679858	K562	blood:	n/a	chr10:49679312-49679326
15	ZMIZ1	chr10:49678054-49679506	K562	blood:	n/a	n/a
16	CTCF	chr10:49679060-49679210	NHLF	lung:	n/a	n/a
17	MAFK	chr10:49677359-49679863	K562	blood:	n/a	n/a
18	POLR2A	chr10:49675855-49679748	K562	blood:	n/a	n/a
19	JUND	chr10:49677370-49679695	K562	blood:	n/a	chr10:49678975-49678987
20	GATA1	chr10:49676752-49680318	K562	blood:	n/a	chr10:49678382-49678389 chr10:49678473-49678483 chr10:49678138-49678154 chr10:49678138-49678154
21	POLR2A	chr10:49677473-49679175	K562	blood:	n/a	n/a
22	ZC3H11A	chr10:49677652-49679130	K562	blood:	n/a	n/a
23	RCOR1	chr10:49677151-49679904	K562	blood:	n/a	n/a
24	ZNF143	chr10:49678884-49679489	K562	blood:	n/a	chr10:49679133-49679142
25	POLR2A	chr10:49678996-49679573	K562	blood:	n/a	n/a
26	RCOR1	chr10:49678868-49679318	K562	blood:	n/a	n/a
27	MAZ	chr10:49677952-49679865	K562	blood:	n/a	n/a
28	POLR2A	chr10:49677307-49679553	K562	blood:	n/a	n/a
29	POLR2A	chr10:49676868-49679152	K562	blood:	n/a	n/a
30	POLR2A	chr10:49677335-49679142	K562	blood:	n/a	n/a
31	TBL1XR1	chr10:49679014-49679510	K562	blood:	n/a	n/a
32	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	chr10:49677142..49679295-chr10:49729863..49732327,2	K562	blood:
2	chr10:49677603..49679164-chr10:49733692..49735615,2	K562	blood:
3	chr10:49646827..49648798-chr10:49677849..49680976,3	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:

No data

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

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10745275	1.00[EUR][1000 genomes]
rs10776604	1.00[EUR][1000 genomes]
rs10776605	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10857569	1.00[CEU][hapmap]
rs10857570	1.00[CEU][hapmap]
rs11101337	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1822860	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1867574	1.00[EUR][1000 genomes]
rs1867575	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1881739	1.00[CEU][hapmap]
rs1919705	1.00[CEU][hapmap]
rs1978998	1.00[CEU][hapmap]
rs2590388	1.00[CEU][hapmap]
rs2698760	1.00[CEU][hapmap]
rs2698769	1.00[CEU][hapmap]
rs3867448	1.00[EUR][1000 genomes]
rs3867450	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4012794	1.00[EUR][1000 genomes]
rs4012795	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4012801	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4141840	1.00[CEU][hapmap]
rs4838599	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7085678	1.00[CEU][hapmap]
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:56 , 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	chr10:49675200-49679400	Enhancers	Fetal Intestine Large	intestine
7	chr10:49675200-49680000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:49675200-49680000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:49675600-49679800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr10:49676000-49679800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr10:49676000-49680200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:49676200-49679600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:49676200-49679600	Enhancers	Ovary	ovary
14	chr10:49676200-49679800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr10:49676200-49681600	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr10:49676800-49680000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:49676800-49680200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:49676800-49680400	Enhancers	NHEK	skin
19	chr10:49677000-49679400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:49677000-49679400	Strong transcription	NHLF	lung
21	chr10:49677000-49680800	Enhancers	HMEC	breast
22	chr10:49677200-49680200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:49677400-49679200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:49677400-49679600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr10:49677400-49679800	Enhancers	Brain Hippocampus Middle	brain
26	chr10:49677400-49680000	Enhancers	Esophagus	oesophagus
27	chr10:49677600-49679200	Enhancers	Brain Cingulate Gyrus	brain
28	chr10:49677600-49679400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr10:49677600-49679600	Enhancers	Brain Angular Gyrus	brain
30	chr10:49677600-49679800	Enhancers	Brain Substantia Nigra	brain
31	chr10:49677600-49679800	Enhancers	HUVEC	blood vessel
32	chr10:49677800-49679200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr10:49677800-49679400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr10:49677800-49679400	Enhancers	Left Ventricle	heart
35	chr10:49677800-49679800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:49678200-49679800	Enhancers	NH-A	brain
37	chr10:49678200-49687200	Weak transcription	HSMMtube	muscle
38	chr10:49678400-49679400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr10:49678400-49679400	Weak transcription	NHDF-Ad	bronchial
40	chr10:49678400-49681000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr10:49678400-49683800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr10:49678800-49679200	Transcr. at gene 5' and 3'	K562	blood
43	chr10:49678800-49680000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr10:49678800-49684000	Weak transcription	Placenta	Placenta
45	chr10:49678800-49684200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr10:49678800-49684200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr10:49678800-49684200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:49678800-49684200	Weak transcription	Right Atrium	heart
49	chr10:49679000-49679200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr10:49679000-49679200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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