Variant report

Variant	rs35254623
Chromosome Location	chr1:77942643-77942644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77915846..77918627-chr1:77942564..77944973,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12731121	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12732561	0.85[EUR][1000 genomes]
rs12733666	0.91[EUR][1000 genomes]
rs12746354	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12756133	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12760589	0.85[EUR][1000 genomes]
rs13376422	0.90[EUR][1000 genomes]
rs17380852	0.84[EUR][1000 genomes]
rs2454328	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2647496	0.82[AMR][1000 genomes]
rs2647497	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35635429	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35883964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4949803	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66538606	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67045981	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72681697	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv462095	chr1:77903611-77951460	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv546592	chr1:77903611-77951460	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77913200-77968400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:77914600-77955600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:77933600-77944400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:77934200-77948800	Weak transcription	Right Atrium	heart
5	chr1:77934600-77955200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:77935600-77955800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:77935800-77954800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:77938200-77948800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:77939200-77945400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:77940200-77943600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:77940200-77955800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:77940400-77943400	Weak transcription	NHDF-Ad	bronchial
13	chr1:77940400-77945400	Weak transcription	HSMM	muscle
14	chr1:77940400-77946400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:77940400-77946800	Weak transcription	Brain Substantia Nigra	brain
16	chr1:77940400-77954800	Weak transcription	Brain Angular Gyrus	brain
17	chr1:77940400-77955400	Weak transcription	NHLF	lung
18	chr1:77940600-77944000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:77940600-77944400	Weak transcription	Primary T cells from cord blood	blood
20	chr1:77940600-77954800	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:77940600-77955600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:77940600-77960800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:77940800-77955400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:77941400-77943600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:77942000-77942800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr1:77942000-77945400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:77942600-77942800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:77942600-77944000	Enhancers	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links