Variant report

Variant	rs17100463
Chromosome Location	chr1:77838317-77838318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77838249..77841580-chr1:77844120..77846924,3	K562	blood:
2	chr1:77820213..77822574-chr1:77837980..77839971,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11584919	1.00[CHB][hapmap]
rs11590456	1.00[CHB][hapmap]
rs1167202	1.00[CHB][hapmap]
rs1167212	1.00[CHB][hapmap]
rs12124822	1.00[CHB][hapmap]
rs12125503	1.00[CHB][hapmap]
rs12128049	1.00[CHB][hapmap]
rs12132273	1.00[CHB][hapmap]
rs12133976	1.00[CHB][hapmap]
rs12135843	1.00[CHB][hapmap]
rs12136415	1.00[CHB][hapmap]
rs12141929	1.00[CHB][hapmap]
rs12742485	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12751064	1.00[JPT][hapmap]
rs1377737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453981	1.00[CHB][hapmap]
rs17098287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17100458	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs17100476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34800536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34997978	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949788	1.00[CHB][hapmap]
rs4949794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7546963	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv2764210	chr1:77825478-77838400	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77803400-77839200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:77834000-77839800	Enhancers	NHDF-Ad	bronchial
3	chr1:77834200-77839000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:77835800-77846400	Weak transcription	Aorta	Aorta
5	chr1:77836400-77838400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr1:77836600-77840800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:77836600-77844000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:77836600-77844400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:77837000-77840600	Weak transcription	Brain Anterior Caudate	brain
10	chr1:77837000-77840800	Weak transcription	Brain Substantia Nigra	brain
11	chr1:77837000-77844400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:77837200-77841000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:77837200-77841000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:77837200-77845000	Weak transcription	Fetal Stomach	stomach
15	chr1:77837400-77838600	Genic enhancers	HSMM	muscle
16	chr1:77837400-77840800	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:77837400-77844600	Weak transcription	Brain Angular Gyrus	brain
18	chr1:77837400-77845800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:77837600-77844800	Weak transcription	HSMMtube	muscle
20	chr1:77837800-77838600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr1:77837800-77840800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:77837800-77844200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:77837800-77844400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:77838000-77843200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:77838000-77844200	Weak transcription	Primary T cells from cord blood	blood
26	chr1:77838200-77838600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:77838200-77841200	Weak transcription	NHLF	lung

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