Variant report

Variant	rs61814891
Chromosome Location	chr1:151995555-151995556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11805632	0.87[ASN][1000 genomes]
rs12083193	0.85[EUR][1000 genomes]
rs12239945	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16833743	0.85[EUR][1000 genomes]
rs1979637	0.84[AFR][1000 genomes]
rs2012674	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3791153	0.84[EUR][1000 genomes]
rs61814883	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6587643	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6587644	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6677973	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6678672	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs999992	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases
5	nsv946389	chr1:151987731-151995842	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs61814891	NBPF18P	cis	Nerve Tibial	GTEx
rs61814891	THEM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151986600-151996200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:151986800-152007400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:151988600-152002600	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:151988600-152004000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:151993400-152003000	Weak transcription	Fetal Intestine Small	intestine
6	chr1:151993800-151996000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:151994000-151996000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:151994000-151996200	Enhancers	HMEC	breast
9	chr1:151994000-152002400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:151994200-151996200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:151994200-151996400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:151994200-151997800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:151994400-151996200	Enhancers	NHEK	skin
14	chr1:151994400-152003200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:151994800-151996200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:151994800-151996600	Enhancers	Esophagus	oesophagus
17	chr1:151995000-151997200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:151995400-151995600	Enhancers	Primary neutrophils fromperipheralblood	blood

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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

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