Variant report

Variant	rs11068247
Chromosome Location	chr12:117377104-117377105
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	chr12:117375784..117377782-chr12:117384873..117386508,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10507277	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs10732611	0.84[JPT][hapmap]
rs10735099	0.84[JPT][hapmap]
rs10774891	0.83[JPT][hapmap]
rs10774892	0.81[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs10774896	0.84[JPT][hapmap]
rs10850743	0.87[CHB][hapmap]
rs10850744	0.81[CHB][hapmap]
rs11068245	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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];0.92[ASN][1000 genomes]
rs11068259	1.00[CEU][hapmap]
rs11068262	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];0.89[ASN][1000 genomes]
rs11068280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11068282	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][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]
rs11068286	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]
rs11068294	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11068296	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs11068310	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs12368874	1.00[CEU][hapmap]
rs12371218	1.00[CEU][hapmap]
rs17583145	1.00[CEU][hapmap];0.82[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]
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];0.96[ASN][1000 genomes]
rs2133684	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2242469	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs2270792	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap]
rs2270793	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap]
rs2291912	0.89[JPT][hapmap]
rs2393111	0.84[JPT][hapmap]
rs3782189	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs3782190	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs3803089	0.86[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]
rs3893370	0.84[JPT][hapmap]
rs4074147	0.84[JPT][hapmap]
rs4076700	0.84[JPT][hapmap]
rs4077519	0.84[JPT][hapmap]
rs4130296	0.84[JPT][hapmap]
rs4347476	1.00[CEU][hapmap];0.86[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]
rs4522274	0.84[JPT][hapmap]
rs4542506	0.83[JPT][hapmap]
rs4562925	0.84[JPT][hapmap]
rs4766815	0.84[JPT][hapmap]
rs4766820	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs4766821	0.81[CHB][hapmap]
rs4767474	0.84[JPT][hapmap]
rs4767476	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs4767478	0.83[JPT][hapmap]
rs4767483	0.84[JPT][hapmap]
rs4767484	0.84[JPT][hapmap]
rs4767489	0.83[JPT][hapmap]
rs4767491	0.82[JPT][hapmap]
rs4767493	0.84[JPT][hapmap]
rs6490102	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs7131746	0.83[JPT][hapmap]
rs7133066	0.81[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];0.92[ASN][1000 genomes]
rs7137006	0.84[JPT][hapmap]
rs7137752	0.84[JPT][hapmap]
rs7297446	0.93[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap]
rs7298447	0.81[CHB][hapmap]
rs7303882	0.83[JPT][hapmap]
rs7308498	0.84[JPT][hapmap]
rs7311972	0.84[JPT][hapmap]
rs7316144	0.84[JPT][hapmap]
rs7487081	0.84[JPT][hapmap]
rs7959666	0.84[JPT][hapmap]
rs7973240	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117354800-117383200	Weak transcription	Esophagus	oesophagus
2	chr12:117358400-117392600	Weak transcription	Small Intestine	intestine
3	chr12:117363200-117399400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:117363400-117381000	Weak transcription	NHEK	skin
5	chr12:117363400-117381400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:117363400-117385000	Weak transcription	HUVEC	blood vessel
7	chr12:117365000-117383200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:117365000-117383400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:117365800-117381200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:117365800-117383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:117366200-117377600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:117366600-117381000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:117366600-117381200	Weak transcription	Liver	Liver
15	chr12:117366600-117381400	Weak transcription	Aorta	Aorta
16	chr12:117366600-117383200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:117366600-117388400	Weak transcription	K562	blood
18	chr12:117367000-117380000	Weak transcription	Fetal Thymus	thymus
19	chr12:117367200-117379200	Weak transcription	Spleen	Spleen
20	chr12:117367800-117382800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:117368000-117379800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:117368000-117381200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:117368000-117383200	Weak transcription	Hela-S3	cervix
24	chr12:117368000-117383400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:117368200-117383000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr12:117368800-117381400	Weak transcription	Adipose Nuclei	Adipose
27	chr12:117369800-117383200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:117370000-117382000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr12:117371400-117381000	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:117371400-117381200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:117371400-117381200	Weak transcription	Brain Substantia Nigra	brain
32	chr12:117371400-117381600	Weak transcription	Brain Anterior Caudate	brain
33	chr12:117371400-117383400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:117371400-117383400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:117371600-117378200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr12:117371600-117380000	Weak transcription	Brain Angular Gyrus	brain
37	chr12:117371800-117381000	Weak transcription	Brain Germinal Matrix	brain
38	chr12:117372000-117377200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:117372200-117377200	Weak transcription	HSMMtube	muscle
40	chr12:117372200-117377600	Weak transcription	Psoas Muscle	Psoas
41	chr12:117372200-117380600	Weak transcription	Fetal Brain Female	brain
42	chr12:117372400-117381400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr12:117372400-117383000	Weak transcription	NH-A	brain
44	chr12:117373000-117383200	Weak transcription	Fetal Brain Male	brain
45	chr12:117373400-117377600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:117373400-117381200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:117373400-117383200	Weak transcription	Right Ventricle	heart
48	chr12:117373600-117379000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:117373800-117393200	Weak transcription	Stomach Mucosa	stomach
50	chr12:117374200-117381000	Weak transcription	A549	lung

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