Variant report

Variant	rs11068268
Chromosome Location	chr12:117399520-117399521
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117396665..117399645-chr12:117404294..117406013,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10850749	0.96[ASN][1000 genomes]
rs11068233	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11068265	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068267	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068275	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11068278	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068279	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068285	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068288	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068304	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068305	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12227740	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12228058	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12230860	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297748	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12313807	0.96[ASN][1000 genomes]
rs12313968	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12318749	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17582998	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17583110	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28454853	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3825101	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs57066310	0.96[ASN][1000 genomes]
rs57212223	0.96[ASN][1000 genomes]
rs58547422	0.96[ASN][1000 genomes]
rs59143111	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60601556	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72487544	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980519	0.82[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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1048942	chr12:117365506-117400588	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:117382600-117408000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:117384400-117411200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:117384600-117427400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:117384800-117402200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:117384800-117407400	Weak transcription	Brain Angular Gyrus	brain
7	chr12:117384800-117411000	Weak transcription	Hela-S3	cervix
8	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:117385200-117406200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:117385200-117410200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:117385200-117410600	Weak transcription	Fetal Kidney	kidney
12	chr12:117385800-117408200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:117386000-117402800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:117386000-117404200	Weak transcription	HepG2	liver
15	chr12:117386000-117405000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:117387600-117399800	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:117387600-117402000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:117387600-117402200	Weak transcription	Brain Substantia Nigra	brain
19	chr12:117387800-117399600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:117387800-117399600	Weak transcription	Fetal Thymus	thymus
21	chr12:117387800-117400000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:117387800-117401400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:117387800-117402400	Weak transcription	Esophagus	oesophagus
24	chr12:117387800-117402400	Weak transcription	NHEK	skin
25	chr12:117387800-117404200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:117387800-117407000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:117387800-117407400	Weak transcription	Aorta	Aorta
28	chr12:117387800-117463600	Weak transcription	HMEC	breast
29	chr12:117388000-117402400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:117388000-117402800	Weak transcription	NHDF-Ad	bronchial
31	chr12:117388200-117401400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:117388600-117399600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:117389000-117399800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr12:117389400-117399600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:117389600-117399800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr12:117389600-117402200	Weak transcription	Placenta	Placenta
37	chr12:117389800-117402800	Weak transcription	NH-A	brain
38	chr12:117390000-117399800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:117390000-117402400	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:117390200-117402000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr12:117390200-117402400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:117390400-117399600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:117390400-117399800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr12:117390400-117401800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:117390400-117402200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:117390400-117402400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:117391000-117401800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:117391400-117401600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:117391400-117402000	Weak transcription	Fetal Intestine Large	intestine
50	chr12:117392800-117400600	Weak transcription	Stomach Smooth Muscle	stomach

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