Variant report

Variant	rs7965237
Chromosome Location	chr12:46613487-46613488
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46611489..46616057-chr12:46626284..46631509,6	MCF-7	breast:
2	chr12:46611672..46615140-chr12:46658386..46664443,5	K562	blood:
3	chr12:46611087..46613702-chr12:46764972..46767938,2	K562	blood:
4	chr12:46608964..46611081-chr12:46612036..46613850,2	K562	blood:
5	chr12:46611743..46615456-chr12:46661323..46664567,5	MCF-7	breast:
6	chr12:46612067..46613640-chr12:46616342..46619054,2	K562	blood:
7	chr12:46605677..46608421-chr12:46611673..46613533,2	MCF-7	breast:
8	chr12:46593049..46595554-chr12:46612027..46614436,2	MCF-7	breast:
9	chr12:46611766..46613913-chr12:46659130..46661605,2	MCF-7	breast:
10	chr12:46611447..46614258-chr12:46760762..46763199,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000111371	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10160965	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10219550	0.88[ASN][1000 genomes]
rs10880936	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880937	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880938	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880940	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10880941	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880942	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11183397	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11183401	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12307102	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1822740	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1822741	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2125644	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs57668910	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58776177	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7953774	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7971883	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7975060	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7980222	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs963325	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46591000-46613600	Weak transcription	Fetal Brain Male	brain
2	chr12:46591000-46613600	Weak transcription	Gastric	stomach
3	chr12:46592800-46654200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:46596000-46618200	Weak transcription	Aorta	Aorta
5	chr12:46597400-46614200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:46597600-46659600	Weak transcription	Colonic Mucosa	Colon
7	chr12:46600000-46613600	Weak transcription	NHLF	lung
8	chr12:46604000-46623400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:46604000-46633800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:46604000-46637400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:46604200-46613600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:46604400-46618600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:46605000-46615000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:46605000-46615200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:46607000-46615000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:46608400-46615000	Enhancers	Primary hematopoietic stem cells	blood
17	chr12:46608400-46618200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:46609000-46614400	Weak transcription	Fetal Stomach	stomach
19	chr12:46609200-46613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:46609200-46613600	Weak transcription	Brain Anterior Caudate	brain
21	chr12:46609200-46618600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr12:46610200-46613800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:46610200-46619000	Weak transcription	Psoas Muscle	Psoas
24	chr12:46610400-46613600	Weak transcription	Spleen	Spleen
25	chr12:46610400-46624000	Weak transcription	Pancreas	Pancrea
26	chr12:46610600-46613600	Weak transcription	Right Ventricle	heart
27	chr12:46610600-46640000	Weak transcription	Esophagus	oesophagus
28	chr12:46610800-46613600	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr12:46610800-46614400	Weak transcription	Brain Germinal Matrix	brain
30	chr12:46611000-46613800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:46611400-46615800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:46611600-46616800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:46612000-46613600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:46612000-46615400	Strong transcription	Fetal Muscle Leg	muscle
35	chr12:46612000-46617200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:46612200-46613800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:46612200-46613800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:46612200-46615200	Enhancers	Fetal Intestine Small	intestine
39	chr12:46612200-46615200	Enhancers	Small Intestine	intestine
40	chr12:46612200-46616000	Enhancers	Placenta	Placenta
41	chr12:46612200-46618200	Genic enhancers	NHEK	skin
42	chr12:46612400-46613800	Enhancers	HMEC	breast
43	chr12:46612400-46614200	Enhancers	Dnd41	blood
44	chr12:46612400-46614400	Enhancers	Thymus	Thymus
45	chr12:46612400-46614600	Genic enhancers	H1 Cell Line	embryonic stem cell
46	chr12:46612400-46615400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:46612400-46618400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:46612600-46618400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:46612800-46613600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:46612800-46614400	Genic enhancers	Fetal Thymus	thymus

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