Variant report

Variant	rs10849806
Chromosome Location	chr12:121309205-121309206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10160872	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1027556	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10431387	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10459142	0.89[ASN][1000 genomes]
rs10774569	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10774570	0.88[EUR][1000 genomes]
rs10774571	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10774573	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10774575	0.89[ASN][1000 genomes]
rs10774576	0.89[ASN][1000 genomes]
rs10849793	0.85[ASN][1000 genomes]
rs10849794	0.85[EUR][1000 genomes]
rs10849800	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849803	0.94[EUR][1000 genomes]
rs10849805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849810	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849811	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10849812	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10849813	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849814	0.91[EUR][1000 genomes]
rs10849815	0.85[ASN][1000 genomes]
rs10849816	0.85[ASN][1000 genomes]
rs11065272	0.84[ASN][1000 genomes]
rs11065298	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065313	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065319	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065320	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065321	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065322	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12231343	0.85[ASN][1000 genomes]
rs12310161	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12423697	0.85[EUR][1000 genomes]
rs2049211	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393718	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34433264	0.86[ASN][1000 genomes]
rs3809314	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56137011	0.85[EUR][1000 genomes]
rs56161401	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6489781	0.85[ASN][1000 genomes]
rs6489782	0.85[ASN][1000 genomes]
rs7131886	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7135147	0.85[ASN][1000 genomes]
rs7139145	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs715319	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7296632	0.87[ASN][1000 genomes]
rs7298639	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7306083	0.85[EUR][1000 genomes]
rs7315439	1.00[ASN][1000 genomes]
rs7316450	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73224325	0.84[EUR][1000 genomes]
rs73229156	0.91[EUR][1000 genomes]
rs7954254	0.96[EUR][1000 genomes]
rs7965332	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7977343	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121283200-121310200	Weak transcription	Placenta	Placenta
2	chr12:121288000-121311800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:121288000-121316600	Weak transcription	NHLF	lung
4	chr12:121288200-121339600	Weak transcription	Hela-S3	cervix
5	chr12:121291600-121312400	Weak transcription	Gastric	stomach
6	chr12:121292000-121312400	Weak transcription	Aorta	Aorta
7	chr12:121294200-121340400	Weak transcription	HSMM	muscle
8	chr12:121294600-121310200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:121295000-121310200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:121295000-121310200	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:121295000-121311000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:121295000-121316200	Weak transcription	HMEC	breast
13	chr12:121296200-121311000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:121296600-121310800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:121296800-121309800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:121297200-121310200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:121297400-121311800	Weak transcription	Dnd41	blood
18	chr12:121297400-121339800	Weak transcription	A549	lung
19	chr12:121297600-121315200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:121298400-121313600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:121300600-121310000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:121300600-121310200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:121300600-121310200	Weak transcription	Psoas Muscle	Psoas
24	chr12:121300600-121310400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:121300600-121312400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:121300600-121328800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:121300800-121309400	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:121302000-121328800	Weak transcription	Fetal Intestine Large	intestine
29	chr12:121303200-121310200	Weak transcription	Adipose Nuclei	Adipose
30	chr12:121303200-121310200	Weak transcription	Brain Anterior Caudate	brain
31	chr12:121303200-121310200	Weak transcription	Right Atrium	heart
32	chr12:121303400-121309600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:121303400-121312400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:121303600-121309800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:121303600-121310200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:121303600-121311000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:121303600-121312400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr12:121303600-121312400	Weak transcription	Pancreas	Pancrea
39	chr12:121303800-121310000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:121303800-121310000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:121303800-121310200	Weak transcription	Spleen	Spleen
42	chr12:121303800-121312400	Weak transcription	Lung	lung
43	chr12:121304200-121310200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:121304200-121310600	Weak transcription	Brain Angular Gyrus	brain
45	chr12:121304200-121329800	Weak transcription	K562	blood
46	chr12:121304600-121310200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:121304600-121310200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:121304600-121310800	Weak transcription	Primary T cells from cord blood	blood
49	chr12:121304600-121311800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:121304600-121339800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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