Variant report

Variant	rs11068286
Chromosome Location	chr12:117441172-117441173
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117438803..117441545-chr12:117447187..117449859,2	K562	blood:
2	chr12:117439692..117442558-chr12:117449975..117451489,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10507277	0.81[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs10732611	0.84[JPT][hapmap]
rs10735099	0.84[JPT][hapmap]
rs10735103	0.81[ASN][1000 genomes]
rs10774891	0.83[JPT][hapmap]
rs10774892	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs10774896	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs10850743	0.86[CHB][hapmap]
rs10850744	0.80[CHB][hapmap]
rs11068245	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11068258	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068259	1.00[CEU][hapmap]
rs11068262	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11068282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068294	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11068296	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs11068302	0.82[ASN][1000 genomes]
rs11068303	0.82[ASN][1000 genomes]
rs11068310	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs12368874	1.00[CEU][hapmap];0.81[ASN][1000 genomes]
rs12371218	1.00[CEU][hapmap]
rs17583145	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17616662	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2133684	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2242469	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs2270792	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2270793	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2291912	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2393111	0.83[JPT][hapmap]
rs3782189	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs3782190	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs3803089	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3893370	0.83[JPT][hapmap]
rs4074147	0.84[JPT][hapmap]
rs4076700	0.83[JPT][hapmap]
rs4077519	0.84[JPT][hapmap]
rs4130296	0.83[JPT][hapmap]
rs4347476	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4522274	0.84[JPT][hapmap]
rs4542506	0.82[JPT][hapmap]
rs4562925	0.83[JPT][hapmap]
rs4766815	0.83[JPT][hapmap]
rs4766820	0.81[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs4766821	0.81[ASN][1000 genomes]
rs4767474	0.83[JPT][hapmap]
rs4767476	0.84[JPT][hapmap]
rs4767478	0.83[JPT][hapmap]
rs4767483	0.83[JPT][hapmap]
rs4767484	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs4767485	0.81[ASN][1000 genomes]
rs4767487	0.81[ASN][1000 genomes]
rs4767489	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs4767491	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs4767493	0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs59578958	0.82[ASN][1000 genomes]
rs6490102	0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs7131746	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs7133066	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs7136629	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7137006	0.84[JPT][hapmap]
rs7137752	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs7297155	0.83[ASN][1000 genomes]
rs7297446	0.92[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs7298447	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs7303882	0.83[JPT][hapmap]
rs7308498	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs7311972	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs7316144	0.84[JPT][hapmap]
rs7487081	0.83[JPT][hapmap]
rs7954824	0.81[ASN][1000 genomes]
rs7959666	0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs7973240	0.83[JPT][hapmap];0.81[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	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
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr12:117387800-117463600	Weak transcription	HMEC	breast
3	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
4	chr12:117397000-117442400	Weak transcription	Colonic Mucosa	Colon
5	chr12:117404600-117442400	Weak transcription	HepG2	liver
6	chr12:117405600-117442400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:117408200-117442400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:117408400-117452200	Weak transcription	Thymus	Thymus
9	chr12:117411600-117451800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:117417200-117452400	Weak transcription	Psoas Muscle	Psoas
11	chr12:117417400-117453600	Weak transcription	GM12878-XiMat	blood
12	chr12:117418400-117441800	Weak transcription	K562	blood
13	chr12:117418400-117442400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:117418400-117444600	Weak transcription	HUVEC	blood vessel
15	chr12:117425400-117441800	Weak transcription	Gastric	stomach
16	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:117426800-117445600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:117427200-117442400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:117427200-117442800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:117427800-117443400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:117428000-117442400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:117428000-117442400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:117428000-117442400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:117428200-117442200	Weak transcription	A549	lung
25	chr12:117428200-117442400	Weak transcription	Fetal Kidney	kidney
26	chr12:117428200-117442400	Weak transcription	Fetal Thymus	thymus
27	chr12:117428200-117447600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:117428600-117442400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:117428600-117442800	Weak transcription	NHDF-Ad	bronchial
30	chr12:117428800-117442400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:117429400-117441800	Weak transcription	Ovary	ovary
32	chr12:117429400-117442600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:117429600-117441600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:117429600-117441800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:117429600-117442600	Weak transcription	HSMMtube	muscle
36	chr12:117429800-117442400	Weak transcription	Adipose Nuclei	Adipose
37	chr12:117429800-117442400	Weak transcription	Dnd41	blood
38	chr12:117430000-117441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:117430000-117442400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:117430800-117442200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:117432000-117441800	Enhancers	Fetal Heart	heart
42	chr12:117432000-117446200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:117432200-117444200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:117432200-117446400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:117432600-117445800	Strong transcription	Fetal Muscle Leg	muscle
46	chr12:117432800-117444600	Strong transcription	Fetal Stomach	stomach
47	chr12:117434200-117442400	Weak transcription	NH-A	brain
48	chr12:117434200-117443200	Weak transcription	Hela-S3	cervix
49	chr12:117434200-117449800	Weak transcription	NHEK	skin
50	chr12:117434400-117442800	Weak transcription	Primary hematopoietic stem cells	blood

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