Variant report

Variant	rs4916227
Chromosome Location	chr1:171401212-171401213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4579793	0.83[LWK][hapmap];1.00[YRI][hapmap]
rs7539673	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv470745	chr1:171381746-171409514	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv465628	chr1:171381746-171409515	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv548189	chr1:171381746-171409515	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4916227	FMO4	cis	cerebellum	SCAN
rs4916227	C1orf105	cis	parietal	SCAN
rs4916227	ADCY10	cis	cerebellum	SCAN
rs4916227	ALDH9A1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171392800-171402800	Weak transcription	NHLF	lung
2	chr1:171397800-171401400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr1:171398800-171408400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:171400200-171401400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:171400200-171401600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr1:171400200-171401800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:171400400-171402000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:171400400-171402200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:171400600-171401600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:171400800-171401800	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:171401000-171401400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr1:171401000-171402200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:171401000-171403400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:171401200-171401400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:171401200-171401400	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr1:171401200-171401600	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr1:171401200-171402200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:171401200-171402200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:171401200-171407600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

Quick Search:

Input of quick search could be:

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

what's new

Quick links