Variant report

Variant	rs60906113
Chromosome Location	chr2:32452144-32452145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32449383..32452935-chr2:32453353..32456316,4	K562	blood:
2	chr2:32451148..32452935-chr2:32453528..32455785,2	K562	blood:
3	chr2:32445227..32449129-chr2:32451328..32453997,4	K562	blood:
4	chr2:32435157..32437239-chr2:32449933..32452199,2	K562	blood:
5	chr2:32390601..32392270-chr2:32450948..32453894,2	MCF-7	breast:
6	chr2:32450716..32453123-chr2:32453250..32456033,3	MCF-7	breast:
7	chr2:32451081..32452778-chr2:32461639..32463751,2	K562	blood:

Variant related genes	Relation type
ENSG00000272716	Chromatin interaction
ENSG00000152683	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11887458	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11895183	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11895623	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13006302	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13029716	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2145038	0.81[EUR][1000 genomes]
rs35245684	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35560333	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35653492	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3851309	0.82[ASN][1000 genomes]
rs58980266	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60386495	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6543653	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6719805	0.81[ASN][1000 genomes]
rs6726255	0.81[EUR][1000 genomes]
rs6757121	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71446044	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71446045	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71446054	1.00[AFR][1000 genomes]
rs71446055	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71446056	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72863973	0.98[ASN][1000 genomes]
rs72863977	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580118	0.90[AFR][1000 genomes];0.89[ASN][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	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv2667	chr2:32444810-32489755	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32391600-32452800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:32391800-32453800	Weak transcription	Colonic Mucosa	Colon
3	chr2:32403000-32452200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:32404200-32452400	Weak transcription	Right Ventricle	heart
5	chr2:32404200-32460600	Weak transcription	Esophagus	oesophagus
6	chr2:32422000-32452400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:32424400-32455400	Weak transcription	Fetal Brain Male	brain
8	chr2:32426400-32455000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:32438800-32452400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:32442800-32452200	Strong transcription	Liver	Liver
11	chr2:32443000-32483600	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:32443200-32483800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:32444600-32452200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:32444800-32452600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:32444800-32452800	Weak transcription	Fetal Intestine Small	intestine
16	chr2:32445200-32452600	Strong transcription	Placenta	Placenta
17	chr2:32445800-32452200	Weak transcription	Fetal Heart	heart
18	chr2:32445800-32452400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:32445800-32461400	Weak transcription	Psoas Muscle	Psoas
20	chr2:32446200-32456400	Weak transcription	NHLF	lung
21	chr2:32447200-32452200	Strong transcription	Primary T cells from cord blood	blood
22	chr2:32447200-32452200	Strong transcription	Adipose Nuclei	Adipose
23	chr2:32447400-32452600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:32447400-32483800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr2:32447600-32452600	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:32448200-32452800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:32448200-32452800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:32448200-32453000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:32448200-32458400	Weak transcription	NHDF-Ad	bronchial
30	chr2:32448200-32460800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:32448200-32462400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:32448400-32453000	Weak transcription	Dnd41	blood
33	chr2:32448400-32453600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:32448400-32474800	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:32448600-32452600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:32448600-32460800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:32448800-32452200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:32448800-32452600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:32448800-32453800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:32448800-32455200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:32448800-32455200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:32448800-32456600	Weak transcription	Pancreas	Pancrea
43	chr2:32448800-32457000	Weak transcription	HMEC	breast
44	chr2:32448800-32457800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:32448800-32459000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:32448800-32465400	Weak transcription	Osteobl	bone
47	chr2:32448800-32467000	Weak transcription	Left Ventricle	heart
48	chr2:32448800-32475600	Weak transcription	Lung	lung
49	chr2:32448800-32484800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr2:32449000-32452800	Weak transcription	K562	blood

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