Variant report

Variant	rs62169170
Chromosome Location	chr2:145019187-145019188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1012272	0.90[EUR][1000 genomes]
rs10191725	0.81[EUR][1000 genomes]
rs12151646	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12620547	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622422	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13383062	0.81[EUR][1000 genomes]
rs13392253	0.83[EUR][1000 genomes]
rs13432930	0.88[EUR][1000 genomes]
rs16823566	0.80[EUR][1000 genomes]
rs16823569	0.81[EUR][1000 genomes]
rs16823583	0.81[EUR][1000 genomes]
rs16823604	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60152197	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62167058	0.83[EUR][1000 genomes]
rs62167059	0.83[EUR][1000 genomes]
rs62169169	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62169171	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62169173	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715658	0.81[EUR][1000 genomes]
rs6716723	0.83[EUR][1000 genomes]
rs6725333	0.81[EUR][1000 genomes]
rs6731750	0.81[EUR][1000 genomes]
rs6758648	0.81[EUR][1000 genomes]
rs6758720	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv834396	chr2:144842187-145019465	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
12	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145008600-145025800	Weak transcription	Ovary	ovary
2	chr2:145012400-145019600	Weak transcription	Aorta	Aorta
3	chr2:145013400-145023200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:145014400-145019600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:145015000-145022400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:145015000-145066800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:145016800-145028800	Weak transcription	Fetal Lung	lung
8	chr2:145017200-145019400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:145017200-145019400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:145018200-145019200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:145018200-145019800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr2:145018400-145019200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:145018400-145019200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:145018400-145024800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:145018600-145019200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:145018600-145019200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:145018600-145019200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:145018600-145019200	Enhancers	GM12878-XiMat	blood
19	chr2:145018600-145019400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:145018600-145019600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr2:145018600-145019600	Enhancers	Primary T cells from cord blood	blood
22	chr2:145018600-145019800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:145018600-145019800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr2:145018800-145019200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr2:145018800-145019400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr2:145018800-145024800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:145018800-145031800	Weak transcription	Primary B cells from cord blood	blood
28	chr2:145019000-145019600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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