Variant report

Variant	rs6701993
Chromosome Location	chr1:9889389-9889390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12034805	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs56241315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7539650	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9885600-9894400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:9885800-9895200	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:9885800-9895600	Weak transcription	Spleen	Spleen
4	chr1:9885800-9896200	Weak transcription	Psoas Muscle	Psoas
5	chr1:9886000-9891200	Weak transcription	Esophagus	oesophagus
6	chr1:9886000-9893800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:9886000-9895600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:9886000-9895600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:9886000-9895600	Weak transcription	Right Atrium	heart
10	chr1:9886200-9891200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:9886200-9895400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:9887000-9895400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:9887200-9894000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:9887800-9894400	Weak transcription	HMEC	breast
15	chr1:9888000-9895200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:9888800-9890200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:9888800-9891000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:9888800-9891000	Weak transcription	NHEK	skin
19	chr1:9889200-9891000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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