Variant report

Variant	rs10010718
Chromosome Location	chr4:99346207-99346208
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10516428	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs10516430	0.84[JPT][hapmap]
rs12508978	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17027523	0.84[JPT][hapmap]
rs6827097	0.83[ASN][1000 genomes]
rs7671104	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7678647	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9884594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99299400-99350800	Weak transcription	NHLF	lung
2	chr4:99307000-99366200	Weak transcription	Fetal Brain Male	brain
3	chr4:99308600-99363200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:99312000-99355400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:99325800-99367000	Weak transcription	Right Ventricle	heart
6	chr4:99327800-99355400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:99334000-99355000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:99334200-99350800	Weak transcription	NHEK	skin
9	chr4:99334200-99355200	Weak transcription	Fetal Kidney	kidney
10	chr4:99334200-99355800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:99334400-99355200	Weak transcription	Fetal Intestine Large	intestine
12	chr4:99334400-99361800	Weak transcription	Aorta	Aorta
13	chr4:99334400-99364600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:99334400-99366000	Weak transcription	Psoas Muscle	Psoas
15	chr4:99334400-99367400	Weak transcription	Small Intestine	intestine
16	chr4:99334400-99368800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:99336400-99365000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:99337200-99356000	Weak transcription	Esophagus	oesophagus
19	chr4:99337200-99363200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr4:99337600-99351200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:99337600-99369800	Weak transcription	Fetal Heart	heart
22	chr4:99337800-99346400	Strong transcription	Dnd41	blood
23	chr4:99337800-99346600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr4:99337800-99346600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:99337800-99346800	Strong transcription	Primary hematopoietic stem cells	blood
26	chr4:99337800-99346800	Strong transcription	Adipose Nuclei	Adipose
27	chr4:99337800-99347000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:99337800-99347400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:99338000-99346800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:99338000-99347000	Strong transcription	HSMM	muscle
31	chr4:99338000-99347400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:99338000-99347600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:99338200-99346800	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr4:99338400-99363200	Weak transcription	Spleen	Spleen
35	chr4:99338800-99347000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:99339000-99363200	Weak transcription	Colonic Mucosa	Colon
37	chr4:99339000-99370200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr4:99340800-99370600	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:99341200-99365000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:99341600-99346800	Strong transcription	Fetal Thymus	thymus
41	chr4:99341600-99347000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:99341800-99346400	Strong transcription	Primary T cells from cord blood	blood
43	chr4:99341800-99346600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:99341800-99346800	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr4:99341800-99347000	Weak transcription	Hela-S3	cervix
46	chr4:99342000-99346800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:99342200-99346800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:99342200-99346800	Strong transcription	Liver	Liver
49	chr4:99342400-99355200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:99342600-99346800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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