Variant report

Variant	rs10849794
Chromosome Location	chr12:121251782-121251783
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10160872	0.83[EUR][1000 genomes]
rs1027556	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10431373	0.87[ASN][1000 genomes]
rs10431387	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10437837	0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10437838	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10774569	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10774570	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10774571	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10774573	0.83[EUR][1000 genomes]
rs10849783	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10849785	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10849787	0.81[EUR][1000 genomes]
rs10849788	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10849789	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10849790	0.84[EUR][1000 genomes]
rs10849792	0.94[CHB][hapmap];0.94[JPT][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10849795	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10849796	0.97[ASN][1000 genomes]
rs10849798	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10849799	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10849800	0.85[EUR][1000 genomes]
rs10849803	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10849805	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs10849806	0.85[EUR][1000 genomes]
rs10849808	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10849809	0.87[ASN][1000 genomes]
rs10849810	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10849811	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10849812	0.81[EUR][1000 genomes]
rs10849813	0.83[EUR][1000 genomes]
rs10849814	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065242	0.82[JPT][hapmap]
rs11065262	0.94[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs11065266	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065271	0.87[CHB][hapmap];0.83[JPT][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11065276	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11065289	0.83[CHB][hapmap]
rs11065298	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11065313	0.81[EUR][1000 genomes]
rs11065319	0.83[EUR][1000 genomes]
rs11065320	0.83[EUR][1000 genomes]
rs11065321	0.83[EUR][1000 genomes]
rs11065322	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11833706	1.00[CEU][hapmap]
rs12302189	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12310161	0.83[EUR][1000 genomes]
rs12423697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049211	0.85[EUR][1000 genomes]
rs2229534	0.81[JPT][hapmap]
rs2393718	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs3213568	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs3213569	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3213571	1.00[CEU][hapmap]
rs3809314	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs56137011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56161401	0.83[EUR][1000 genomes]
rs6489780	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7131886	0.83[EUR][1000 genomes]
rs7139145	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs715319	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7298639	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7306083	0.88[EUR][1000 genomes]
rs73224325	0.87[EUR][1000 genomes]
rs73229135	1.00[ASN][1000 genomes]
rs73229156	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7954254	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7965332	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7977343	0.90[CEU][hapmap];0.84[EUR][1000 genomes]

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	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

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121211400-121260800	Weak transcription	Gastric	stomach
2	chr12:121222200-121274000	Weak transcription	Lung	lung
3	chr12:121222600-121259000	Weak transcription	Ovary	ovary
4	chr12:121222600-121260800	Weak transcription	Spleen	Spleen
5	chr12:121222600-121268600	Weak transcription	Esophagus	oesophagus
6	chr12:121222600-121268600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:121230000-121255200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:121234000-121264200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:121234600-121263000	Weak transcription	A549	lung
10	chr12:121236400-121259000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:121237000-121255400	Weak transcription	Fetal Heart	heart
12	chr12:121237600-121252000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:121237600-121252600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:121237800-121253200	Weak transcription	K562	blood
15	chr12:121237800-121253400	Weak transcription	Psoas Muscle	Psoas
16	chr12:121237800-121255600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:121239200-121252600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:121239200-121252800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:121239200-121255000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:121239200-121260600	Weak transcription	Right Atrium	heart
21	chr12:121239400-121253000	Weak transcription	Fetal Kidney	kidney
22	chr12:121239400-121255200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:121239600-121255200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:121239800-121255200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:121240000-121252800	Weak transcription	Fetal Lung	lung
26	chr12:121240800-121260800	Weak transcription	Small Intestine	intestine
27	chr12:121241000-121252000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:121241000-121261200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:121241200-121252000	Weak transcription	HUVEC	blood vessel
30	chr12:121241200-121258400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:121241200-121259000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr12:121241800-121255600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:121241800-121255800	Weak transcription	Primary T cells from cord blood	blood
34	chr12:121241800-121260800	Weak transcription	Thymus	Thymus
35	chr12:121242400-121259000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr12:121242600-121256400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr12:121244800-121264000	Weak transcription	Aorta	Aorta
38	chr12:121245000-121252800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:121246200-121252000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:121247600-121252200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:121248000-121252000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:121248000-121255000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:121248000-121255200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:121248000-121255600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:121248000-121264400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:121248000-121265200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:121248200-121252000	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:121248200-121255600	Weak transcription	Fetal Intestine Small	intestine
49	chr12:121248200-121267200	Weak transcription	Fetal Stomach	stomach
50	chr12:121248200-121272200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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