Variant report

Variant	rs7592868
Chromosome Location	chr2:86835969-86835970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86830433..86833197-chr2:86835951..86838485,3	K562	blood:
2	chr2:86835703..86840288-chr2:86849045..86852992,6	K562	blood:
3	chr2:86834891..86837645-chr2:86855817..86858466,2	MCF-7	breast:
4	chr2:86835131..86837608-chr2:86849890..86852297,2	MCF-7	breast:
5	chr2:86827267..86829725-chr2:86835203..86837286,2	K562	blood:
6	chr2:86833139..86837318-chr2:86838732..86843459,5	K562	blood:

Variant related genes	Relation type
ENSG00000239305	Chromatin interaction
ENSG00000228363	Chromatin interaction
ENSG00000249884	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13394423	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2276624	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[ASN][1000 genomes]
rs3731811	0.89[ASN][1000 genomes]
rs3755000	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810829	0.91[EUR][1000 genomes]
rs3821013	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs41318646	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.90[TSI][hapmap]
rs41374146	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58860972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1011590	chr2:86824181-86906114	Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7592868	C2orf23	cis	multi-tissue	Pritchard

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86823200-86842800	Weak transcription	Psoas Muscle	Psoas
2	chr2:86824600-86840600	Weak transcription	Fetal Heart	heart
3	chr2:86825400-86849000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:86826800-86842000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:86826800-86847800	Weak transcription	NHEK	skin
6	chr2:86828200-86847800	Weak transcription	NHLF	lung
7	chr2:86828800-86836000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:86829000-86845400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:86829400-86848400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:86829400-86849600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:86829600-86836000	Weak transcription	Spleen	Spleen
12	chr2:86829600-86846200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:86829800-86846000	Weak transcription	NH-A	brain
14	chr2:86829800-86849400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:86830000-86839400	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr2:86830000-86846200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:86830000-86848600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:86830400-86846200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:86830400-86847600	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr2:86830400-86848600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:86830600-86839600	Strong transcription	Adipose Nuclei	Adipose
22	chr2:86830600-86847000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:86830800-86836000	Strong transcription	Osteobl	bone
24	chr2:86830800-86836400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:86830800-86845000	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:86830800-86845600	Strong transcription	Dnd41	blood
27	chr2:86830800-86847600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:86830800-86847800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:86830800-86848000	Strong transcription	Placenta	Placenta
30	chr2:86831000-86838800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:86831000-86839200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:86831000-86839200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:86831000-86842600	Strong transcription	Liver	Liver
34	chr2:86831000-86842800	Strong transcription	Fetal Intestine Large	intestine
35	chr2:86831000-86847200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:86831600-86836000	Weak transcription	Aorta	Aorta
37	chr2:86831800-86836000	Weak transcription	Fetal Kidney	kidney
38	chr2:86831800-86836200	Weak transcription	Esophagus	oesophagus
39	chr2:86831800-86843200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:86831800-86848000	Weak transcription	HMEC	breast
41	chr2:86831800-86848200	Weak transcription	K562	blood
42	chr2:86832000-86836200	Weak transcription	NHDF-Ad	bronchial
43	chr2:86832000-86838000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr2:86832000-86840800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:86832200-86848200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:86832400-86840800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:86832400-86849400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr2:86832600-86836000	Weak transcription	Brain Angular Gyrus	brain
49	chr2:86832600-86836200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:86832600-86841000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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