Variant report

Variant	rs10849777
Chromosome Location	chr12:121115760-121115761
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121114453..121120002-chr12:121123011..121126758,6	MCF-7	breast:
2	chr12:121115639..121118008-chr12:121125789..121128419,2	K562	blood:
3	chr12:121114045..121117293-chr12:121162367..121164936,3	K562	blood:
4	chr12:121114876..121117771-chr12:121122511..121125011,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110917	Chromatin interaction
ENSG00000122971	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1055059	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849797	0.86[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065179	1.00[ASN][1000 genomes]
rs11065201	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065207	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065208	1.00[CEU][hapmap]
rs11065210	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065213	1.00[CEU][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11065226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065253	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065254	1.00[ASN][1000 genomes]
rs11065258	0.86[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065260	0.86[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065267	0.86[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065275	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065279	0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs11065281	0.83[AMR][1000 genomes]
rs11065285	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065288	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065291	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065294	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065308	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065309	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12366451	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12368617	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718207	1.00[ASN][1000 genomes]
rs497457	0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs498255	1.00[ASN][1000 genomes]
rs513940	1.00[ASN][1000 genomes]
rs515784	1.00[ASN][1000 genomes]
rs519785	1.00[ASN][1000 genomes]
rs530162	1.00[ASN][1000 genomes]
rs554197	1.00[ASN][1000 genomes]
rs572009	1.00[ASN][1000 genomes]
rs574993	0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs581197	1.00[ASN][1000 genomes]
rs581515	1.00[ASN][1000 genomes]
rs582678	1.00[ASN][1000 genomes]
rs590556	1.00[ASN][1000 genomes]
rs591489	1.00[ASN][1000 genomes]
rs59818945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61108232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61414515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61624288	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627211	1.00[ASN][1000 genomes]
rs639343	1.00[ASN][1000 genomes]
rs645661	1.00[ASN][1000 genomes]
rs645786	1.00[ASN][1000 genomes]
rs647336	0.82[CEU][hapmap];0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs648262	0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs651156	1.00[ASN][1000 genomes]
rs660878	1.00[ASN][1000 genomes]
rs671815	0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs708784	0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs708788	0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs73409953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411916	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73413866	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73413874	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs949443	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121107200-121118200	Weak transcription	Left Ventricle	heart
2	chr12:121107400-121118200	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:121107400-121123400	Weak transcription	Right Atrium	heart
4	chr12:121108600-121118000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:121110400-121116200	Enhancers	Primary B cells from cord blood	blood
6	chr12:121113200-121115800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:121114600-121116800	Enhancers	NHEK	skin
8	chr12:121114600-121119200	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:121115200-121116800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:121115400-121115800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:121115400-121115800	Enhancers	Spleen	Spleen
12	chr12:121115400-121116000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:121115400-121116000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:121115400-121116000	Flanking Active TSS	HUVEC	blood vessel
15	chr12:121115400-121116200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:121115400-121116400	Enhancers	A549	lung
17	chr12:121115400-121116400	Enhancers	Hela-S3	cervix
18	chr12:121115400-121116600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:121115400-121116600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:121115400-121116600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr12:121115400-121116600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:121115400-121116600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:121115400-121116600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr12:121115400-121116600	Enhancers	Fetal Intestine Large	intestine
25	chr12:121115400-121116600	Flanking Active TSS	GM12878-XiMat	blood
26	chr12:121115400-121116600	Enhancers	HepG2	liver
27	chr12:121115400-121116600	Enhancers	HMEC	breast
28	chr12:121115400-121116600	Enhancers	NHDF-Ad	bronchial
29	chr12:121115400-121116800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:121115400-121117600	Enhancers	Adipose Nuclei	Adipose
31	chr12:121115400-121118800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr12:121115600-121116400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr12:121115600-121116400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:121115600-121116400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr12:121115600-121116600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:121115600-121116600	Enhancers	Fetal Intestine Small	intestine
37	chr12:121115600-121116600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr12:121115600-121116600	Enhancers	NH-A	brain
39	chr12:121115600-121116600	Enhancers	Osteobl	bone
40	chr12:121115600-121116800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr12:121115600-121116800	Enhancers	Primary hematopoietic stem cells	blood
42	chr12:121115600-121116800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:121115600-121116800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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