Variant report

Variant	rs10160965
Chromosome Location	chr12:46611748-46611749
allele	G/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 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	chr12:46610326..46612389-chr12:46622277..46624931,2	K562	blood:
5	chr12:46604867..46608116-chr12:46608247..46612042,4	K562	blood:
6	chr12:46611743..46615456-chr12:46661323..46664567,5	MCF-7	breast:
7	chr12:46605677..46608421-chr12:46611673..46613533,2	MCF-7	breast:
8	chr12:46611447..46614258-chr12:46760762..46763199,2	K562	blood:

No data

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

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

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

rs_ID	r²[population]
rs10219550	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs10880936	0.91[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10880937	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880938	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880940	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880941	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10880942	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11183397	0.91[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183401	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12307102	0.90[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1822740	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1822741	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2125644	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs57668910	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58776177	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953774	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7965237	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7971883	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7975060	0.93[ASN][1000 genomes]
rs7980222	0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs963325	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46590800-46613200	Strong transcription	Hela-S3	cervix
2	chr12:46591000-46613200	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:46591000-46613600	Weak transcription	Fetal Brain Male	brain
4	chr12:46591000-46613600	Weak transcription	Gastric	stomach
5	chr12:46592400-46613400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:46592800-46654200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:46596000-46618200	Weak transcription	Aorta	Aorta
8	chr12:46597400-46614200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:46597600-46659600	Weak transcription	Colonic Mucosa	Colon
10	chr12:46600000-46613600	Weak transcription	NHLF	lung
11	chr12:46601200-46613200	Weak transcription	NH-A	brain
12	chr12:46601400-46613200	Weak transcription	Fetal Brain Female	brain
13	chr12:46603600-46612200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:46604000-46613400	Weak transcription	Brain Angular Gyrus	brain
15	chr12:46604000-46623400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:46604000-46633800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:46604000-46637400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:46604200-46612200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:46604200-46612600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:46604200-46613600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:46604400-46613000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:46604400-46613400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:46604400-46618600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:46605000-46615000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:46605000-46615200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:46605200-46612600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:46605200-46613200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:46605400-46612000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:46605400-46612200	Strong transcription	NHEK	skin
30	chr12:46605400-46613400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:46606400-46613400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:46606600-46613200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:46607000-46611800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:46607000-46615000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:46607400-46611800	Weak transcription	HSMM	muscle
36	chr12:46607400-46613400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:46607400-46613400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:46607600-46613200	Weak transcription	Fetal Intestine Large	intestine
39	chr12:46607800-46613200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:46607800-46613400	Weak transcription	A549	lung
41	chr12:46608400-46615000	Enhancers	Primary hematopoietic stem cells	blood
42	chr12:46608400-46618200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr12:46608600-46612400	Genic enhancers	Rectal Mucosa Donor 31	rectum
44	chr12:46609000-46612000	Enhancers	Duodenum Mucosa	Duodenum
45	chr12:46609000-46612200	Weak transcription	Small Intestine	intestine
46	chr12:46609000-46614400	Weak transcription	Fetal Stomach	stomach
47	chr12:46609200-46613200	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:46609200-46613200	Weak transcription	Fetal Heart	heart
49	chr12:46609200-46613400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:46609200-46613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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