Variant report

Variant	rs2122659
Chromosome Location	chr12:62718692-62718693
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62713762..62717130-chr12:62718527..62722595,6	K562	blood:
2	chr12:62718154..62720534-chr12:62859482..62862399,2	MCF-7	breast:
3	chr12:62713327..62717130-chr12:62718435..62722595,6	K562	blood:
4	chr12:62717168..62719794-chr12:62722542..62725055,3	K562	blood:
5	chr12:62706034..62708683-chr12:62717925..62720419,2	K562	blood:

Variant related genes	Relation type
ENSG00000135655	Chromatin interaction
ENSG00000061987	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1032417	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10431566	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10732749	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10784290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10784291	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10877825	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174432	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1376341	0.80[CEU][hapmap]
rs1512024	1.00[CEU][hapmap];0.94[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1901238	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2131436	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2131437	0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2167286	0.82[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4763167	0.80[CEU][hapmap]
rs7135737	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7312416	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7312513	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7315790	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7953445	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7956101	1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7970898	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7974980	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers 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 miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv899153	chr12:62716330-62817736	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 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	chr12:62686200-62720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:62686400-62736400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:62687400-62720600	Weak transcription	Right Ventricle	heart
4	chr12:62691200-62736400	Weak transcription	Esophagus	oesophagus
5	chr12:62691200-62736600	Weak transcription	Lung	lung
6	chr12:62698400-62741800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:62698600-62720800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:62698600-62725800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:62698600-62745800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:62698800-62728600	Weak transcription	Fetal Heart	heart
11	chr12:62699800-62736400	Weak transcription	Aorta	Aorta
12	chr12:62700000-62719000	Weak transcription	Fetal Brain Female	brain
13	chr12:62700000-62726600	Weak transcription	HSMMtube	muscle
14	chr12:62700000-62736400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:62700000-62736400	Weak transcription	Fetal Stomach	stomach
16	chr12:62700000-62737000	Weak transcription	NHLF	lung
17	chr12:62700000-62757000	Weak transcription	HUVEC	blood vessel
18	chr12:62701600-62730800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:62701600-62738600	Weak transcription	Fetal Brain Male	brain
20	chr12:62701600-62742000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:62701600-62769200	Weak transcription	NHEK	skin
22	chr12:62710000-62744400	Weak transcription	Pancreas	Pancrea
23	chr12:62711000-62720400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:62712200-62755400	Weak transcription	Small Intestine	intestine
25	chr12:62713000-62732400	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:62713200-62721400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr12:62713200-62722800	Weak transcription	Fetal Intestine Small	intestine
28	chr12:62713200-62736400	Weak transcription	Gastric	stomach
29	chr12:62714200-62736400	Weak transcription	Spleen	Spleen
30	chr12:62714800-62720400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:62715000-62719800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:62715200-62721600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr12:62716200-62720200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:62716200-62736400	Weak transcription	Ovary	ovary
35	chr12:62716600-62722800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:62716800-62719000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:62716800-62723000	Weak transcription	Left Ventricle	heart
38	chr12:62716800-62724400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:62716800-62726000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:62716800-62729800	Weak transcription	Psoas Muscle	Psoas
41	chr12:62716800-62736000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:62716800-62736000	Weak transcription	Thymus	Thymus
43	chr12:62716800-62736200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:62716800-62736200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:62716800-62736400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:62716800-62736400	Weak transcription	Colonic Mucosa	Colon
47	chr12:62716800-62736400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr12:62716800-62736600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:62717000-62718800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:62717000-62719200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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