Variant report

Variant	rs10873935
Chromosome Location	chr1:77845085-77845086
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77840080..77842951-chr1:77843079..77845956,2	K562	blood:
2	chr1:77838249..77841580-chr1:77844120..77846924,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11162326	0.85[CHB][hapmap];0.92[CHD][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs11162327	0.86[ASN][1000 genomes]
rs11162329	1.00[ASN][1000 genomes]
rs11162335	0.82[ASN][1000 genomes]
rs11584919	1.00[YRI][hapmap]
rs11585455	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11590456	1.00[YRI][hapmap]
rs12043793	1.00[ASN][1000 genomes]
rs12124822	1.00[YRI][hapmap]
rs12125503	1.00[YRI][hapmap]
rs12128049	1.00[YRI][hapmap]
rs12132273	1.00[YRI][hapmap]
rs12135843	1.00[YRI][hapmap]
rs12140227	1.00[YRI][hapmap]
rs12141929	1.00[YRI][hapmap]
rs12565526	0.85[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap]
rs17100509	1.00[ASW][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17100513	1.00[ASW][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2198511	1.00[ASW][hapmap];0.91[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2602936	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.83[EUR][1000 genomes]
rs2602937	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2815307	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs28701620	0.86[ASN][1000 genomes]
rs3862893	0.86[ASN][1000 genomes]
rs4949800	0.88[CHD][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs6603943	0.85[ASN][1000 genomes]
rs6704312	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7546116	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77835800-77846400	Weak transcription	Aorta	Aorta
2	chr1:77837400-77845800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:77839000-77854000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:77842600-77846000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:77842800-77846400	Enhancers	Primary hematopoietic stem cells	blood
6	chr1:77843200-77845200	Enhancers	Brain Cingulate Gyrus	brain
7	chr1:77843600-77846600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:77844000-77845200	Enhancers	Fetal Intestine Large	intestine
9	chr1:77844200-77845200	Enhancers	Primary T cells from cord blood	blood
10	chr1:77844200-77845200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr1:77844200-77845600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:77844200-77845800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:77844200-77845800	Enhancers	Fetal Intestine Small	intestine
14	chr1:77844400-77845200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:77844400-77845200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:77844400-77845200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:77844400-77845200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr1:77844400-77845400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:77844400-77845400	Enhancers	NH-A	brain
20	chr1:77844400-77845600	Enhancers	HSMM	muscle
21	chr1:77844600-77845200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:77844600-77845200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:77844600-77845200	Enhancers	Brain Angular Gyrus	brain
24	chr1:77844600-77845200	Enhancers	Brain Substantia Nigra	brain
25	chr1:77844600-77845200	Enhancers	NHLF	lung
26	chr1:77844600-77845400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:77844600-77845400	Enhancers	HUVEC	blood vessel
28	chr1:77844600-77845400	Enhancers	Osteobl	bone
29	chr1:77844800-77845200	Enhancers	Fetal Kidney	kidney
30	chr1:77844800-77845400	Enhancers	HSMMtube	muscle
31	chr1:77844800-77846600	Genic enhancers	NHDF-Ad	bronchial
32	chr1:77845000-77845200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:77845000-77845400	Enhancers	Brain Hippocampus Middle	brain
34	chr1:77845000-77845800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:77845000-77845800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:77845000-77845800	Enhancers	Fetal Stomach	stomach
37	chr1:77845000-77846000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr1:77845000-77846200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:77845000-77852000	Weak transcription	Brain Anterior Caudate	brain
40	chr1:77845000-77853600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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