Variant report

Variant	rs1167202
Chromosome Location	chr1:77754327-77754328
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr1:77754031-77754418	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr1:77753982-77754330	IMR90	lung:	n/a	n/a
3	FOS	chr1:77753993-77754346	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA2	chr1:77753851-77754341	HUVEC	blood vessel:	n/a	chr1:77753904-77753920
5	GATA3	chr1:77753674-77754383	SK-N-SH	brain:	n/a	chr1:77753904-77753920
6	GATA3	chr1:77753795-77754451	SK-N-SH	brain:	n/a	chr1:77753904-77753920

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77753173..77754991-chr1:77758287..77760412,2	K562	blood:

Variant related genes	Relation type
AK5	TF binding region
ENSG00000154027	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11162318	0.84[EUR][1000 genomes]
rs11584919	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs11590456	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes]
rs1167212	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124822	1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs12125503	0.80[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs12126330	0.81[EUR][1000 genomes]
rs12128049	0.80[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs12132273	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs12133976	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12135843	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs12136415	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[EUR][1000 genomes]
rs12140227	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12141929	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes]
rs1377737	1.00[CHB][hapmap]
rs1453981	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1463324	0.96[YRI][hapmap]
rs17098287	1.00[CHB][hapmap]
rs17100458	1.00[CHB][hapmap]
rs17100463	1.00[CHB][hapmap]
rs17100476	1.00[CHB][hapmap]
rs4949788	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4949791	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949794	1.00[CHB][hapmap]
rs61096452	0.97[EUR][1000 genomes]
rs61783074	0.82[EUR][1000 genomes]
rs61784657	0.92[EUR][1000 genomes]
rs6662853	0.96[YRI][hapmap]
rs72677862	1.00[ASN][1000 genomes]
rs72677864	1.00[ASN][1000 genomes]
rs7531411	0.96[YRI][hapmap]
rs7546963	1.00[CHB][hapmap]
rs9439799	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77749000-77779200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:77749200-77754800	Weak transcription	HSMMtube	muscle
3	chr1:77749200-77778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:77749400-77754600	Weak transcription	Osteobl	bone
5	chr1:77749400-77755600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:77749400-77781600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:77749800-77768800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:77750000-77757400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:77750600-77754400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:77750600-77772400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:77750800-77768200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:77751000-77757400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:77751000-77767600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:77751200-77757800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:77751400-77754600	Weak transcription	NHLF	lung
16	chr1:77751400-77764600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:77752200-77756400	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:77752600-77757200	Strong transcription	HSMM	muscle
19	chr1:77753400-77755000	Genic enhancers	NHDF-Ad	bronchial
20	chr1:77753400-77755200	Strong transcription	Primary T cells from cord blood	blood
21	chr1:77753400-77757600	Weak transcription	Brain Substantia Nigra	brain
22	chr1:77753600-77754400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr1:77753800-77754600	Enhancers	HUVEC	blood vessel
24	chr1:77754000-77754400	Enhancers	Brain Cingulate Gyrus	brain
25	chr1:77754000-77754600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:77754000-77755000	Strong transcription	Brain Angular Gyrus	brain
27	chr1:77754000-77755600	Weak transcription	Stomach Mucosa	stomach
28	chr1:77754000-77757600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:77754200-77754400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:77754200-77754600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:77754200-77755000	Genic enhancers	Brain Anterior Caudate	brain

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