Variant report

Variant	rs12227311
Chromosome Location	chr12:45228464-45228465
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	chr12:45228113..45230766-chr12:45231414..45233959,2	K562	blood:
2	chr12:45228200..45231167-chr12:45235682..45238420,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10506259	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10880694	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10880698	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10880699	1.00[AMR][1000 genomes];0.91[ASN][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];0.98[ASN][1000 genomes]
rs11182704	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182709	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182712	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11182713	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11182714	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11182717	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11182722	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182723	0.89[ASN][1000 genomes]
rs11182724	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182725	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182726	0.89[ASN][1000 genomes]
rs11182728	0.83[ASN][1000 genomes]
rs11182729	0.87[ASN][1000 genomes]
rs11182730	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
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	0.87[AMR][1000 genomes]
rs11182798	0.87[AMR][1000 genomes]
rs12227622	0.89[AMR][1000 genomes]
rs12228073	1.00[AMR][1000 genomes]
rs12228476	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12580287	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12581903	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12582602	1.00[AMR][1000 genomes]
rs12829945	0.89[AMR][1000 genomes]
rs17095196	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17095198	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2658949	0.89[ASN][1000 genomes]
rs2703049	0.89[ASN][1000 genomes]
rs2703052	0.89[ASN][1000 genomes]
rs2703056	0.84[ASN][1000 genomes]
rs2703057	0.89[ASN][1000 genomes]
rs2710418	0.89[ASN][1000 genomes]
rs57726055	1.00[AMR][1000 genomes]
rs59646766	1.00[AMR][1000 genomes]
rs61438749	0.86[ASN][1000 genomes]
rs71459276	0.86[ASN][1000 genomes]
rs7300104	1.00[AMR][1000 genomes]

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	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
5	nsv983317	chr12:45228308-45229655	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:28 , 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	chr12:45220200-45229800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:45220600-45242000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr12:45221800-45229200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:45221800-45242000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:45223200-45229400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:45224800-45229000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:45225200-45229000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:45225200-45231400	Enhancers	Fetal Intestine Small	intestine
10	chr12:45226200-45230600	Enhancers	Fetal Brain Male	brain
11	chr12:45226600-45228800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:45226800-45230000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr12:45227400-45230800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:45227600-45228800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:45227800-45228800	Weak transcription	Primary T cells from cord blood	blood
16	chr12:45227800-45228800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:45227800-45229000	Weak transcription	Brain Angular Gyrus	brain
18	chr12:45227800-45229000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:45227800-45230400	Enhancers	Fetal Brain Female	brain
20	chr12:45228000-45229000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:45228000-45229000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:45228000-45229600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr12:45228000-45231200	Enhancers	Fetal Intestine Large	intestine
24	chr12:45228000-45231400	Enhancers	Duodenum Mucosa	Duodenum
25	chr12:45228400-45229200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:45228400-45229600	Enhancers	Esophagus	oesophagus
27	chr12:45228400-45229800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr12:45228400-45230200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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