Variant report

Variant	rs11183219
Chromosome Location	chr12:46231953-46231954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10161306	0.89[CEU][hapmap]
rs1062905	0.82[CEU][hapmap]
rs10880869	1.00[ASW][hapmap];0.88[CEU][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap]
rs10880873	0.89[CEU][hapmap]
rs10880874	0.88[CEU][hapmap]
rs11183208	0.89[CEU][hapmap]
rs11183211	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183217	0.89[CEU][hapmap]
rs11183220	0.88[MKK][hapmap]
rs11183226	0.89[CEU][hapmap]
rs11183234	0.89[CEU][hapmap]
rs11183251	0.89[CEU][hapmap]
rs11183273	0.89[CEU][hapmap]
rs11183275	0.94[CEU][hapmap]
rs12370024	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1427750	0.82[CEU][hapmap]
rs1896539	0.89[CEU][hapmap]
rs4768098	0.89[CEU][hapmap]
rs4768667	0.94[CEU][hapmap]
rs4768670	0.87[CEU][hapmap]
rs61925812	0.87[EUR][1000 genomes]
rs61925816	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs735351	0.89[CEU][hapmap]

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	esv2758306	chr12:46149338-46349891	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759897	chr12:46149338-46349891	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832396	chr12:46155424-46310583	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46177600-46243400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:46183800-46243400	Weak transcription	Small Intestine	intestine
3	chr12:46186000-46233400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:46186800-46243400	Weak transcription	HSMMtube	muscle
5	chr12:46196400-46243200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:46200600-46244000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:46201800-46233200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:46202200-46233200	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:46202600-46233400	Weak transcription	Brain Substantia Nigra	brain
10	chr12:46202600-46243400	Weak transcription	Aorta	Aorta
11	chr12:46202800-46237800	Weak transcription	Lung	lung
12	chr12:46202800-46243200	Weak transcription	Ovary	ovary
13	chr12:46202800-46243200	Weak transcription	Right Ventricle	heart
14	chr12:46203800-46243800	Weak transcription	Spleen	Spleen
15	chr12:46204000-46233600	Weak transcription	Psoas Muscle	Psoas
16	chr12:46204200-46233200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:46207400-46244400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:46213200-46233200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:46214400-46244000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:46214600-46233600	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:46214800-46233600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:46215800-46233000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:46215800-46244000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:46216200-46233400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:46216200-46244000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr12:46216400-46233000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:46216400-46233000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:46218000-46233200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:46218600-46233000	Weak transcription	Fetal Brain Male	brain
30	chr12:46219000-46244000	Weak transcription	NHDF-Ad	bronchial
31	chr12:46220600-46243400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:46220600-46243400	Weak transcription	Pancreas	Pancrea
33	chr12:46221600-46233400	Weak transcription	Fetal Brain Female	brain
34	chr12:46223200-46244000	Weak transcription	NHLF	lung
35	chr12:46224000-46249400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr12:46225200-46233800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:46225600-46233000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr12:46226400-46243400	Weak transcription	Esophagus	oesophagus
39	chr12:46226600-46244200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:46226800-46232200	Weak transcription	HSMM	muscle
41	chr12:46226800-46233200	Weak transcription	Brain Germinal Matrix	brain
42	chr12:46228000-46244200	Weak transcription	Fetal Heart	heart
43	chr12:46228200-46234600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:46228200-46236000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:46228400-46237800	Weak transcription	Fetal Stomach	stomach
46	chr12:46228600-46244200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:46228800-46233200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:46228800-46237800	Weak transcription	Gastric	stomach
49	chr12:46228800-46248200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:46228800-46249000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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