Variant report

Variant	rs56862143
Chromosome Location	chr12:105579581-105579582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105570915..105572891-chr12:105579294..105581496,2	K562	blood:

Variant related genes	Relation type
ENSG00000136044	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10082824	1.00[ASN][1000 genomes]
rs10083185	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112291	1.00[ASN][1000 genomes]
rs11112292	1.00[ASN][1000 genomes]
rs11112293	1.00[ASN][1000 genomes]
rs11112294	1.00[ASN][1000 genomes]
rs11112295	1.00[ASN][1000 genomes]
rs11112315	1.00[ASN][1000 genomes]
rs11112316	1.00[ASN][1000 genomes]
rs11112318	1.00[ASN][1000 genomes]
rs11112333	1.00[ASN][1000 genomes]
rs11112381	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112389	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112410	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11495192	1.00[ASN][1000 genomes]
rs11559871	0.85[EUR][1000 genomes]
rs11829598	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299366	0.92[EUR][1000 genomes]
rs12299391	0.92[EUR][1000 genomes]
rs12301914	0.92[EUR][1000 genomes]
rs12304384	0.92[EUR][1000 genomes]
rs12305766	0.85[EUR][1000 genomes]
rs12307372	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311156	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12312965	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12317637	0.87[EUR][1000 genomes]
rs12317804	0.92[EUR][1000 genomes]
rs12321199	0.92[EUR][1000 genomes]
rs12321518	0.89[EUR][1000 genomes]
rs12321534	0.82[EUR][1000 genomes]
rs12369202	1.00[ASN][1000 genomes]
rs12369490	1.00[ASN][1000 genomes]
rs12372454	1.00[ASN][1000 genomes]
rs12424191	0.89[EUR][1000 genomes]
rs12424709	0.89[EUR][1000 genomes]
rs12425803	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036595	1.00[ASN][1000 genomes]
rs17036608	1.00[ASN][1000 genomes]
rs1801070	1.00[ASN][1000 genomes]
rs35149056	1.00[ASN][1000 genomes]
rs3910856	1.00[ASN][1000 genomes]
rs55679730	1.00[ASN][1000 genomes]
rs56284118	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59320697	0.89[EUR][1000 genomes]
rs59593474	0.92[EUR][1000 genomes]
rs60835294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60999193	0.92[EUR][1000 genomes]
rs6539184	1.00[ASN][1000 genomes]
rs7132816	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7133728	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7136453	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138574	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300130	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7302842	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7305406	0.89[EUR][1000 genomes]
rs7310860	1.00[ASN][1000 genomes]
rs7313309	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315964	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179946	1.00[ASN][1000 genomes]
rs73179970	1.00[ASN][1000 genomes]
rs73179974	1.00[ASN][1000 genomes]
rs73179990	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179996	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181822	0.89[EUR][1000 genomes]
rs73181857	0.85[EUR][1000 genomes]
rs73193619	1.00[ASN][1000 genomes]
rs73193626	1.00[ASN][1000 genomes]
rs73193630	1.00[ASN][1000 genomes]
rs73193631	1.00[ASN][1000 genomes]
rs7956643	1.00[ASN][1000 genomes]
rs7964184	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966109	1.00[ASN][1000 genomes]
rs7971630	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7975787	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv870352	chr12:105557770-105589263	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105522600-105586000	Weak transcription	Stomach Mucosa	stomach
2	chr12:105525400-105583200	Weak transcription	Fetal Heart	heart
3	chr12:105546800-105625200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:105556200-105583400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:105558200-105587200	Weak transcription	Psoas Muscle	Psoas
6	chr12:105558800-105615200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:105560800-105581800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:105561400-105598400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:105564000-105582200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:105568000-105589400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:105568200-105581800	Weak transcription	Small Intestine	intestine
12	chr12:105568400-105581000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:105569600-105581000	Weak transcription	Hela-S3	cervix
14	chr12:105571000-105581800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:105571400-105617800	Weak transcription	K562	blood
16	chr12:105576000-105580200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:105576000-105593200	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr12:105576000-105595600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:105576400-105579600	Weak transcription	Fetal Brain Male	brain
20	chr12:105576400-105585600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:105576400-105606000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:105577000-105583800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:105577000-105607200	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:105577200-105584000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:105577200-105584000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:105577200-105587400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:105577200-105589400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:105577200-105592200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:105577400-105592800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:105577400-105593600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:105577400-105616200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:105577600-105589200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:105577800-105579800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:105577800-105579800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:105577800-105579800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:105577800-105579800	ZNF genes & repeats	Brain Germinal Matrix	brain
37	chr12:105577800-105579800	Strong transcription	Colon Smooth Muscle	Colon
38	chr12:105577800-105579800	ZNF genes & repeats	Fetal Lung	lung
39	chr12:105577800-105580000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:105577800-105580200	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:105577800-105580200	Strong transcription	Thymus	Thymus
42	chr12:105577800-105580400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:105577800-105583800	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:105577800-105583800	Strong transcription	Fetal Kidney	kidney
45	chr12:105577800-105585600	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr12:105577800-105585800	Strong transcription	Brain Anterior Caudate	brain
47	chr12:105577800-105586400	Strong transcription	Brain Substantia Nigra	brain
48	chr12:105577800-105586800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:105577800-105589600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr12:105577800-105591200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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