Variant report

Variant	rs11068259
Chromosome Location	chr12:117390959-117390960
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	chr12:117383644..117386038-chr12:117390452..117392333,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11068245	1.00[CEU][hapmap]
rs11068247	1.00[CEU][hapmap]
rs11068258	1.00[CEU][hapmap]
rs11068262	1.00[CEU][hapmap]
rs11068280	1.00[CEU][hapmap]
rs11068282	1.00[CEU][hapmap]
rs11068286	1.00[CEU][hapmap]
rs11068287	1.00[AMR][1000 genomes]
rs11068289	1.00[EUR][1000 genomes]
rs11068310	1.00[CEU][hapmap]
rs12368874	1.00[CEU][hapmap]
rs12371218	1.00[CEU][hapmap]
rs17583145	1.00[CEU][hapmap]
rs17616662	1.00[CEU][hapmap]
rs2270792	1.00[CEU][hapmap]
rs2270793	1.00[CEU][hapmap]
rs3782189	1.00[CEU][hapmap]
rs3782190	1.00[CEU][hapmap]
rs4347476	1.00[CEU][hapmap]
rs7136629	1.00[CEU][hapmap]

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	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	nsv1046811	chr12:117353904-117396230	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
3	esv1798657	chr12:117354067-117392259	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
4	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
5	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117358400-117392600	Weak transcription	Small Intestine	intestine
2	chr12:117363200-117399400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:117373800-117393200	Weak transcription	Stomach Mucosa	stomach
5	chr12:117378000-117392600	Weak transcription	Psoas Muscle	Psoas
6	chr12:117381200-117391200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:117381800-117391400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:117381800-117396200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:117382000-117391400	Strong transcription	Fetal Stomach	stomach
10	chr12:117382000-117396400	Weak transcription	GM12878-XiMat	blood
11	chr12:117382600-117408000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:117383000-117391000	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:117383000-117391200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:117383000-117391400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr12:117384400-117392600	Weak transcription	Fetal Heart	heart
16	chr12:117384400-117411200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:117384600-117427400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:117384800-117393200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:117384800-117402200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:117384800-117407400	Weak transcription	Brain Angular Gyrus	brain
21	chr12:117384800-117411000	Weak transcription	Hela-S3	cervix
22	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:117385000-117393000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:117385000-117396400	Weak transcription	Colonic Mucosa	Colon
25	chr12:117385200-117399400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:117385200-117406200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr12:117385200-117410200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:117385200-117410600	Weak transcription	Fetal Kidney	kidney
29	chr12:117385800-117408200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:117386000-117396200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:117386000-117402800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:117386000-117404200	Weak transcription	HepG2	liver
33	chr12:117386000-117405000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:117387600-117392600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:117387600-117399800	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:117387600-117402000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:117387600-117402200	Weak transcription	Brain Substantia Nigra	brain
38	chr12:117387800-117392000	Weak transcription	Fetal Lung	lung
39	chr12:117387800-117392000	Weak transcription	HUVEC	blood vessel
40	chr12:117387800-117392600	Weak transcription	Brain Anterior Caudate	brain
41	chr12:117387800-117392600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:117387800-117392600	Weak transcription	Lung	lung
43	chr12:117387800-117392600	Weak transcription	Pancreas	Pancrea
44	chr12:117387800-117393600	Weak transcription	A549	lung
45	chr12:117387800-117393800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:117387800-117396200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:117387800-117396200	Weak transcription	Gastric	stomach
48	chr12:117387800-117396200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:117387800-117396200	Weak transcription	Right Ventricle	heart
50	chr12:117387800-117396200	Weak transcription	Thymus	Thymus

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