Variant report

Variant	rs1533811
Chromosome Location	chr12:121302396-121302397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121297853..121300744-chr12:121301370..121304769,3	K562	blood:
2	chr12:121293275..121295846-chr12:121302395..121304368,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10849804	0.84[YRI][hapmap]
rs11065270	0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11065278	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11065295	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065314	0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11829904	0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11833718	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306138	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1533810	1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35239344	0.92[ASN][1000 genomes]
rs59757908	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60238091	1.00[EUR][1000 genomes]
rs61523086	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6489783	0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133413	0.88[YRI][hapmap]
rs7295098	1.00[CEU][hapmap]
rs7301612	1.00[EUR][1000 genomes]
rs7307973	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs7309538	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7313532	0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7316132	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316417	0.81[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7956848	1.00[EUR][1000 genomes]
rs7960336	1.00[EUR][1000 genomes]
rs7972912	0.88[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121282000-121308600	Weak transcription	Fetal Kidney	kidney
2	chr12:121283200-121310200	Weak transcription	Placenta	Placenta
3	chr12:121283400-121307400	Weak transcription	Esophagus	oesophagus
4	chr12:121288000-121311800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:121288000-121316600	Weak transcription	NHLF	lung
6	chr12:121288200-121339600	Weak transcription	Hela-S3	cervix
7	chr12:121290000-121302600	Weak transcription	Liver	Liver
8	chr12:121291600-121312400	Weak transcription	Gastric	stomach
9	chr12:121292000-121312400	Weak transcription	Aorta	Aorta
10	chr12:121292400-121305600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:121292800-121303000	Weak transcription	Small Intestine	intestine
12	chr12:121293000-121302600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:121293000-121308200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:121294200-121303000	Weak transcription	Left Ventricle	heart
15	chr12:121294200-121340400	Weak transcription	HSMM	muscle
16	chr12:121294600-121310200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:121295000-121302600	Weak transcription	Brain Substantia Nigra	brain
18	chr12:121295000-121303000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:121295000-121303000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:121295000-121303000	Weak transcription	Thymus	Thymus
21	chr12:121295000-121310200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:121295000-121310200	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:121295000-121311000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:121295000-121316200	Weak transcription	HMEC	breast
25	chr12:121295200-121304200	Weak transcription	Primary T cells from cord blood	blood
26	chr12:121295600-121302800	Weak transcription	Brain Angular Gyrus	brain
27	chr12:121295600-121304200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:121295600-121305200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:121295800-121302600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr12:121295800-121302600	Weak transcription	Fetal Thymus	thymus
31	chr12:121295800-121307600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:121296200-121311000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:121296600-121304400	Weak transcription	Primary B cells from cord blood	blood
34	chr12:121296600-121310800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:121296800-121303400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr12:121296800-121303800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:121296800-121309800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:121297200-121303000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr12:121297200-121303200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:121297200-121305200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:121297200-121309200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr12:121297200-121310200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:121297400-121305600	Weak transcription	Fetal Muscle Leg	muscle
44	chr12:121297400-121311800	Weak transcription	Dnd41	blood
45	chr12:121297400-121339800	Weak transcription	A549	lung
46	chr12:121297600-121315200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:121298000-121305200	Weak transcription	Fetal Intestine Small	intestine
48	chr12:121298200-121305200	Weak transcription	Fetal Stomach	stomach
49	chr12:121298200-121307600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr12:121298400-121313600	Weak transcription	Duodenum Mucosa	Duodenum

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