Variant report

Variant	rs10849797
Chromosome Location	chr12:121268927-121268928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121267888..121269471-chr12:121280210..121282195,2	K562	blood:
2	chr12:121239385..121241045-chr12:121266410..121269390,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1055059	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10849777	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	1.00[ASN][1000 genomes]
rs11065207	1.00[ASN][1000 genomes]
rs11065210	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065213	1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065222	0.83[AMR][1000 genomes]
rs11065226	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065227	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065228	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065253	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065254	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065258	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065260	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065263	0.83[AMR][1000 genomes]
rs11065267	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065275	0.86[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065279	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11065285	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065288	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065291	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065294	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065308	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065309	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065315	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065318	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065326	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065328	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065334	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065347	1.00[ASN][1000 genomes]
rs11065353	1.00[ASN][1000 genomes]
rs1151854	0.82[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151855	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151860	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151865	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1186042	1.00[ASN][1000 genomes]
rs12366451	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368617	1.00[ASN][1000 genomes]
rs12370534	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1696358	1.00[ASN][1000 genomes]
rs1696362	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1718207	1.00[ASN][1000 genomes]
rs1732397	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs1732399	1.00[ASN][1000 genomes]
rs2454728	1.00[ASN][1000 genomes]
rs2701179	1.00[ASN][1000 genomes]
rs4453314	0.82[AFR][1000 genomes]
rs497457	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498255	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs513940	1.00[ASN][1000 genomes]
rs515784	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519785	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530162	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554197	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572009	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574993	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581197	1.00[ASN][1000 genomes]
rs581515	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs582678	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590556	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591489	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59818945	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61108232	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61414515	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61624288	1.00[ASN][1000 genomes]
rs627211	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639343	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645661	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645786	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647336	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs648262	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs651156	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660878	1.00[ASN][1000 genomes]
rs671815	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708784	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708788	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409953	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73411916	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413866	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73413874	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7960932	1.00[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	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	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
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1045178	chr12:121231461-121271734	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv3441772	chr12:121267419-121269317	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121222200-121274000	Weak transcription	Lung	lung
2	chr12:121248200-121272200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:121248800-121270400	Weak transcription	Primary B cells from cord blood	blood
4	chr12:121248800-121271600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:121248800-121271800	Weak transcription	Dnd41	blood
6	chr12:121255800-121270000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:121260400-121270400	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:121260800-121272400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:121261400-121269400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:121261600-121269200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:121261600-121269200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:121261600-121270600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:121261600-121274400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:121263600-121269200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:121264400-121271000	Weak transcription	Spleen	Spleen
16	chr12:121264600-121272800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:121264800-121275000	Enhancers	Brain Hippocampus Middle	brain
18	chr12:121265200-121272000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:121265400-121273800	Enhancers	Brain Substantia Nigra	brain
20	chr12:121265400-121274200	Enhancers	Brain Angular Gyrus	brain
21	chr12:121266000-121274200	Enhancers	Brain Cingulate Gyrus	brain
22	chr12:121266400-121274600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:121266600-121274000	Enhancers	Brain Anterior Caudate	brain
24	chr12:121266800-121271600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:121266800-121276200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr12:121267200-121282800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:121267400-121272000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:121267400-121272600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr12:121267600-121271200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr12:121267600-121274000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:121267600-121285800	Weak transcription	Colonic Mucosa	Colon
32	chr12:121267800-121274800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr12:121268200-121269200	Enhancers	HepG2	liver
34	chr12:121268200-121269800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:121268400-121269200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:121268400-121269200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr12:121268400-121269600	Enhancers	Fetal Kidney	kidney
38	chr12:121268400-121269800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr12:121268400-121269800	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr12:121268400-121269800	Enhancers	Fetal Intestine Large	intestine
41	chr12:121268400-121269800	Enhancers	Fetal Intestine Small	intestine
42	chr12:121268400-121269800	Enhancers	K562	blood
43	chr12:121268400-121273800	Weak transcription	HSMM	muscle
44	chr12:121268400-121274000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:121268400-121274800	Enhancers	Rectal Smooth Muscle	rectum
46	chr12:121268600-121269000	Enhancers	Aorta	Aorta
47	chr12:121268600-121269000	Enhancers	Esophagus	oesophagus
48	chr12:121268600-121269000	Enhancers	Gastric	stomach
49	chr12:121268600-121269000	Enhancers	Ovary	ovary
50	chr12:121268600-121269200	Enhancers	Primary T cells fromperipheralblood	blood

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