Variant report

Variant	rs553429049
Chromosome Location	chr10:4925707-4925708
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:4908339..4911131-chr10:4925316..4927637,3	K562	blood:
2	chr10:4920221..4922762-chr10:4924634..4927281,2	K562	blood:
3	chr10:4924021..4926769-chr10:4926839..4928381,2	K562	blood:
4	chr10:4924404..4926925-chr10:4947394..4949303,2	K562	blood:
5	chr10:4925269..4926860-chr10:4926881..4928457,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	esv2762839	chr10:4916614-4928890	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1042940	chr10:4916614-4974581	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv947581	chr10:4925629-4933637	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4908800-4944200	Weak transcription	Adipose Nuclei	Adipose
2	chr10:4910400-4936400	Weak transcription	Left Ventricle	heart
3	chr10:4915800-4943600	Weak transcription	Aorta	Aorta
4	chr10:4916800-4936400	Weak transcription	Pancreas	Pancrea
5	chr10:4918400-4968000	Weak transcription	Primary T cells from cord blood	blood
6	chr10:4918800-4931400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr10:4919200-4936800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr10:4921200-4929400	Weak transcription	Fetal Muscle Leg	muscle
9	chr10:4921600-4930800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr10:4924600-4926000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:4924600-4926000	Enhancers	Ovary	ovary
12	chr10:4924600-4926200	Enhancers	NHEK	skin
13	chr10:4924800-4926800	Enhancers	Primary hematopoietic stem cells	blood
14	chr10:4924800-4929200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:4924800-4929600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:4925000-4925800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:4925000-4926000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr10:4925000-4926000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:4925000-4926000	Flanking Active TSS	K562	blood
20	chr10:4925000-4926200	Enhancers	HepG2	liver
21	chr10:4925000-4926200	Enhancers	HMEC	breast
22	chr10:4925200-4925800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:4925200-4925800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:4925200-4925800	Enhancers	NH-A	brain
25	chr10:4925200-4926000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr10:4925400-4925800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:4925400-4925800	Enhancers	NHDF-Ad	bronchial
28	chr10:4925400-4926000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:4925400-4929200	Weak transcription	Fetal Stomach	stomach
30	chr10:4925600-4925800	Enhancers	Esophagus	oesophagus
31	chr10:4925600-4925800	Enhancers	Right Atrium	heart
32	chr10:4925600-4925800	Enhancers	Spleen	Spleen
33	chr10:4925600-4925800	Enhancers	HSMM	muscle
34	chr10:4925600-4926200	Enhancers	A549	lung
35	chr10:4925600-4930200	Strong transcription	Liver	Liver

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