Variant report

Variant	rs12228073
Chromosome Location	chr12:45230214-45230215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45228113..45230766-chr12:45231414..45233959,2	K562	blood:
2	chr12:45228200..45231167-chr12:45235682..45238420,2	K562	blood:
3	chr12:45229297..45232222-chr12:45268941..45271789,2	K562	blood:

Variant related genes	Relation type
ENSG00000184613	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10506259	1.00[AMR][1000 genomes]
rs10880694	1.00[CHB][hapmap];1.00[AMR][1000 genomes]
rs10880698	1.00[CHB][hapmap];1.00[AMR][1000 genomes]
rs10880699	1.00[CHB][hapmap];1.00[AMR][1000 genomes]
rs10880727	1.00[AMR][1000 genomes]
rs10880728	1.00[AMR][1000 genomes]
rs10880729	1.00[AMR][1000 genomes]
rs11182700	0.89[AMR][1000 genomes]
rs11182704	1.00[CHB][hapmap];1.00[AMR][1000 genomes]
rs11182709	1.00[AMR][1000 genomes]
rs11182712	1.00[AMR][1000 genomes]
rs11182713	1.00[CHB][hapmap];1.00[AMR][1000 genomes]
rs11182714	1.00[CHB][hapmap];1.00[AMR][1000 genomes]
rs11182717	1.00[AMR][1000 genomes]
rs11182722	1.00[CHB][hapmap];1.00[AMR][1000 genomes]
rs11182724	1.00[AMR][1000 genomes]
rs11182725	1.00[CHB][hapmap];1.00[AMR][1000 genomes]
rs11182729	1.00[CHB][hapmap]
rs11182730	1.00[AMR][1000 genomes]
rs11182732	1.00[CHB][hapmap]
rs11182770	1.00[AMR][1000 genomes]
rs11182771	1.00[AMR][1000 genomes]
rs11182772	1.00[AMR][1000 genomes]
rs11182785	1.00[AMR][1000 genomes]
rs11182789	1.00[AMR][1000 genomes]
rs11182790	1.00[AMR][1000 genomes]
rs11182791	1.00[AMR][1000 genomes]
rs11182792	1.00[AMR][1000 genomes]
rs11182793	1.00[AMR][1000 genomes]
rs11182796	1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs11182798	0.87[CHB][hapmap];0.87[AMR][1000 genomes]
rs11534985	1.00[CHB][hapmap]
rs12227311	1.00[AMR][1000 genomes]
rs12227622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12228476	1.00[CHB][hapmap];1.00[AMR][1000 genomes]
rs12580287	1.00[AMR][1000 genomes]
rs12581903	1.00[CHB][hapmap];1.00[AMR][1000 genomes]
rs12582602	1.00[AMR][1000 genomes]
rs12829945	0.89[AMR][1000 genomes]
rs17095196	1.00[AMR][1000 genomes]
rs17095198	1.00[AMR][1000 genomes]
rs17095247	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs2658950	0.86[CHB][hapmap]
rs2658976	0.94[CHB][hapmap]
rs2703052	1.00[CHB][hapmap]
rs2710418	0.87[CHB][hapmap]
rs2710424	0.94[CHB][hapmap]
rs447760	0.81[CHB][hapmap]
rs57726055	1.00[AMR][1000 genomes]
rs59646766	1.00[AMR][1000 genomes]
rs7295338	0.88[CHB][hapmap]
rs7300104	1.00[AMR][1000 genomes]

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	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45213600-45237800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:45220600-45242000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr12:45221800-45242000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:45225200-45231400	Enhancers	Fetal Intestine Small	intestine
5	chr12:45226200-45230600	Enhancers	Fetal Brain Male	brain
6	chr12:45227400-45230800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:45227800-45230400	Enhancers	Fetal Brain Female	brain
8	chr12:45228000-45231200	Enhancers	Fetal Intestine Large	intestine
9	chr12:45228000-45231400	Enhancers	Duodenum Mucosa	Duodenum
10	chr12:45228800-45230600	Enhancers	NHEK	skin
11	chr12:45228800-45231800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:45228800-45232000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:45228800-45234200	Enhancers	Primary T cells from cord blood	blood
14	chr12:45229000-45231200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:45229000-45231600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:45229200-45230400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr12:45229400-45230400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:45229600-45231200	Weak transcription	Brain Angular Gyrus	brain
19	chr12:45229600-45233800	Weak transcription	Esophagus	oesophagus
20	chr12:45230000-45230400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr12:45230000-45230600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:45230000-45230800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:45230000-45242200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:45230200-45230600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr12:45230200-45231200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:45230200-45231400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr12:45230200-45232600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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