Variant report

Variant	rs2470962
Chromosome Location	chr7:104434992-104434993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10250078	1.00[AMR][1000 genomes]
rs12111933	1.00[AMR][1000 genomes]
rs1468861	1.00[AMR][1000 genomes]
rs1861610	1.00[AMR][1000 genomes]
rs2193199	1.00[AMR][1000 genomes]
rs4431535	1.00[AMR][1000 genomes]
rs4623345	1.00[AMR][1000 genomes]
rs4730033	1.00[AMR][1000 genomes]
rs4730046	1.00[AMR][1000 genomes]
rs6944590	1.00[AMR][1000 genomes]
rs6958342	1.00[AMR][1000 genomes]
rs7784639	1.00[AMR][1000 genomes]
rs7801079	1.00[AMR][1000 genomes]
rs7801340	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429790	chr7:104314049-104488049	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv429792	chr7:104400049-104488049	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv5887	chr7:104401250-104491604	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1030875	chr7:104409391-104472647	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1028479	chr7:104409391-104479087	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv528392	chr7:104411273-104466675	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv522743	chr7:104411273-104486707	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1019625	chr7:104429371-104461487	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104430800-104436800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:104431800-104436000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:104433400-104435200	Weak transcription	HUVEC	blood vessel
4	chr7:104433400-104439600	Weak transcription	Fetal Intestine Small	intestine
5	chr7:104433800-104435000	Enhancers	HMEC	breast
6	chr7:104434000-104436800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:104434000-104436800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:104434200-104437000	Enhancers	Brain Substantia Nigra	brain
9	chr7:104434200-104441200	Weak transcription	Fetal Intestine Large	intestine
10	chr7:104434400-104436200	Enhancers	Osteobl	bone
11	chr7:104434400-104437000	Enhancers	Brain Hippocampus Middle	brain
12	chr7:104434600-104435000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:104434600-104435200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:104434600-104436800	Enhancers	Brain Cingulate Gyrus	brain
15	chr7:104434600-104437200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:104434800-104435000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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