Variant report

Variant	rs74105295
Chromosome Location	chr1:98206489-98206490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17369919	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17378455	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2786501	1.00[ASN][1000 genomes]
rs4304627	1.00[ASN][1000 genomes]
rs4970728	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55684412	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56012174	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58626076	1.00[ASN][1000 genomes]
rs61033129	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61786599	1.00[ASN][1000 genomes]
rs61790063	0.80[EUR][1000 genomes]
rs61790066	1.00[ASN][1000 genomes]
rs6683957	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72977723	0.80[EUR][1000 genomes]
rs74105298	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74105299	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74105301	1.00[ASN][1000 genomes]
rs74105302	1.00[ASN][1000 genomes]
rs74108303	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74108304	1.00[ASN][1000 genomes]
rs74108305	1.00[ASN][1000 genomes]

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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv530049	chr1:97883261-98384614	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830714	chr1:98025090-98229416	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv871740	chr1:98165091-98322379	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv871472	chr1:98165091-98342417	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv870596	chr1:98165091-98365310	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv871625	chr1:98165091-98564736	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv871050	chr1:98187755-98365310	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv1799805	chr1:98198206-98349028	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv871651	chr1:98200719-98365310	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98177200-98254600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:98179000-98220800	Weak transcription	Psoas Muscle	Psoas
3	chr1:98183600-98279600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:98186200-98220200	Weak transcription	Primary T cells from cord blood	blood
5	chr1:98187200-98207000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:98187200-98208400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:98187200-98217200	Weak transcription	Primary B cells from cord blood	blood
8	chr1:98187200-98243400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:98198800-98224400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:98200800-98231200	Weak transcription	Dnd41	blood
11	chr1:98202000-98214400	Weak transcription	Fetal Lung	lung
12	chr1:98202200-98208800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:98202400-98217800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:98202800-98206600	Weak transcription	Aorta	Aorta
15	chr1:98203800-98206800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:98204000-98256600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:98204200-98206600	Weak transcription	Esophagus	oesophagus
18	chr1:98204200-98224200	Weak transcription	Liver	Liver
19	chr1:98204200-98257000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:98205200-98206800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:98205200-98206800	Enhancers	NHLF	lung
22	chr1:98205600-98231000	Weak transcription	HSMM	muscle
23	chr1:98205800-98208000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:98205800-98209200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:98206000-98211600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:98206000-98224200	Weak transcription	Osteobl	bone
27	chr1:98206200-98206800	Enhancers	Brain Hippocampus Middle	brain
28	chr1:98206400-98206800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:98206400-98206800	Enhancers	Brain Substantia Nigra	brain
30	chr1:98206400-98207000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:98206400-98207000	Enhancers	Brain Angular Gyrus	brain
32	chr1:98206400-98207000	Enhancers	Ovary	ovary
33	chr1:98206400-98207800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:98206400-98226400	Weak transcription	Primary hematopoietic stem cells	blood

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