Variant report

Variant	rs12578138
Chromosome Location	chr12:32813224-32813225
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:32811588..32814499-chr12:32816082..32818863,2	K562	blood:
2	chr12:32813043..32814579-chr12:32832601..32834705,2	K562	blood:
3	chr12:32813043..32814825-chr12:32831892..32834705,2	K562	blood:

Variant related genes	Relation type
ENSG00000087470	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10771974	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10771975	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10771977	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771978	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844273	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10844274	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10844276	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844277	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844278	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844280	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844281	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844283	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11052131	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11052132	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11052133	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11052135	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11052137	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052138	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052139	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052140	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052143	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052144	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11052145	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052146	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052148	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052150	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052152	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052190	0.81[EUR][1000 genomes]
rs11052202	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11831711	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11831712	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12303123	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303164	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303426	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12303953	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12304039	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310263	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310477	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322199	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12322258	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12368935	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12372562	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12372569	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12578124	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579125	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581955	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810331	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12810355	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810650	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12828920	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12830610	0.85[ASN][1000 genomes]
rs28621557	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs36008752	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931032	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931033	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4931034	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4931035	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931036	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4931649	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55945230	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57627995	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61450261	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488074	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488075	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66895109	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132486	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135667	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7135806	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7295930	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7301868	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301985	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303018	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7309751	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309894	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310437	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7312162	1.00[ASN][1000 genomes]
rs7312580	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316283	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958243	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7968325	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7971671	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9971875	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047658	chr12:32792554-32835646	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv541457	chr12:32792554-32835646	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32793600-32819600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:32811000-32813400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:32811000-32814800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:32811800-32813400	Enhancers	Fetal Thymus	thymus
5	chr12:32812200-32814600	Enhancers	Adipose Nuclei	Adipose
6	chr12:32812200-32814800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:32812200-32815000	Enhancers	Fetal Muscle Leg	muscle
8	chr12:32812800-32813400	Enhancers	Gastric	stomach
9	chr12:32812800-32813400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr12:32812800-32813600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:32812800-32813600	Enhancers	Aorta	Aorta
12	chr12:32812800-32813800	Enhancers	Fetal Muscle Trunk	muscle
13	chr12:32812800-32813800	Enhancers	Placenta	Placenta
14	chr12:32812800-32813800	Enhancers	Fetal Stomach	stomach
15	chr12:32812800-32813800	Enhancers	Stomach Smooth Muscle	stomach
16	chr12:32812800-32814600	Enhancers	NHDF-Ad	bronchial
17	chr12:32813000-32813400	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr12:32813000-32813400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr12:32813000-32813600	Enhancers	Lung	lung
20	chr12:32813000-32813800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:32813000-32813800	Enhancers	Colon Smooth Muscle	Colon
22	chr12:32813000-32813800	Enhancers	NHLF	lung
23	chr12:32813000-32814000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:32813000-32814800	Enhancers	Psoas Muscle	Psoas
25	chr12:32813000-32815000	Enhancers	Left Ventricle	heart
26	chr12:32813200-32813600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr12:32813200-32813800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:32813200-32813800	Enhancers	Right Atrium	heart
29	chr12:32813200-32813800	Enhancers	Right Ventricle	heart
30	chr12:32813200-32813800	Enhancers	Osteobl	bone
31	chr12:32813200-32814000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr12:32813200-32814000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr12:32813200-32814600	Enhancers	HSMMtube	muscle

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