Variant report

Variant	rs12693116
Chromosome Location	chr2:152623917-152623918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152623599..152625917-chr2:152684439..152687152,2	K562	blood:
2	chr2:152614524..152619932-chr2:152620577..152626819,11	K562	blood:
3	chr2:152623331..152625099-chr2:152684439..152686596,2	K562	blood:
4	chr2:152623627..152626142-chr2:152629148..152631495,3	K562	blood:
5	chr2:152621355..152624044-chr2:152629210..152631031,2	K562	blood:

Variant related genes	Relation type
ENSG00000162980	Chromatin interaction

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

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

rs_ID	r²[population]
rs10171724	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10180065	0.99[ASN][1000 genomes]
rs10184063	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10185966	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10198530	0.87[ASN][1000 genomes]
rs10198531	0.89[ASN][1000 genomes]
rs10200512	0.80[ASN][1000 genomes]
rs10754989	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11676866	0.80[ASN][1000 genomes]
rs11682909	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11894672	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11896217	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12470190	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12472627	0.92[ASN][1000 genomes]
rs13016166	0.80[ASN][1000 genomes]
rs1523181	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1916301	0.92[ASN][1000 genomes]
rs1916302	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2030588	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2293221	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3768658	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3922996	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3922997	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4233654	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4266011	0.83[ASN][1000 genomes]
rs4306714	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4393745	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4414677	0.99[ASN][1000 genomes]
rs4450595	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4453694	0.88[EUR][1000 genomes]
rs4510224	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4552188	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4605370	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4664066	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4664499	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6433590	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6715027	0.99[ASN][1000 genomes]
rs6715607	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6718439	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6740508	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741567	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6744121	0.81[ASN][1000 genomes]
rs6749823	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6759419	0.88[EUR][1000 genomes]
rs7557801	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7564630	0.99[ASN][1000 genomes]
rs7580820	0.88[ASN][1000 genomes]
rs7581532	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7583060	0.99[ASN][1000 genomes]
rs7583148	0.99[ASN][1000 genomes]
rs7592798	0.92[ASN][1000 genomes]
rs9287998	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288006	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152611000-152632400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:152614600-152638000	Weak transcription	Pancreas	Pancrea
3	chr2:152616800-152644400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:152616800-152662400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:152617000-152632600	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:152617000-152638000	Weak transcription	Esophagus	oesophagus
7	chr2:152617000-152669400	Weak transcription	Gastric	stomach
8	chr2:152618200-152631200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:152618400-152625200	Strong transcription	Aorta	Aorta
10	chr2:152619000-152677400	Weak transcription	Brain Substantia Nigra	brain
11	chr2:152619800-152635800	Weak transcription	Fetal Brain Female	brain
12	chr2:152620200-152632000	Enhancers	Primary B cells from cord blood	blood
13	chr2:152620400-152624000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:152620800-152624800	Enhancers	HUVEC	blood vessel
15	chr2:152621200-152624200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:152621600-152627800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:152621800-152624000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr2:152622000-152624200	Enhancers	Fetal Lung	lung
19	chr2:152622000-152632800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:152622000-152632800	Weak transcription	Thymus	Thymus
21	chr2:152622200-152624000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:152622200-152624200	Enhancers	Left Ventricle	heart
23	chr2:152622200-152624400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:152622200-152624400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:152622200-152624800	Enhancers	Right Atrium	heart
26	chr2:152622200-152625200	Enhancers	Psoas Muscle	Psoas
27	chr2:152622200-152632200	Weak transcription	Fetal Intestine Large	intestine
28	chr2:152622200-152661800	Weak transcription	Fetal Kidney	kidney
29	chr2:152622400-152624000	Genic enhancers	Fetal Stomach	stomach
30	chr2:152622400-152624200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:152622400-152624200	Enhancers	GM12878-XiMat	blood
32	chr2:152622400-152624400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:152622400-152624800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr2:152622600-152624000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr2:152622600-152633000	Weak transcription	Right Ventricle	heart
36	chr2:152622600-152633800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:152622800-152624000	Genic enhancers	Fetal Muscle Leg	muscle
38	chr2:152622800-152624400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:152622800-152625200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr2:152622800-152629600	Enhancers	Primary B cells from peripheral blood	blood
41	chr2:152623000-152624200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr2:152623000-152624200	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr2:152623000-152624400	Enhancers	HepG2	liver
44	chr2:152623000-152680000	Weak transcription	Spleen	Spleen
45	chr2:152623200-152624000	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr2:152623200-152624000	Genic enhancers	Placenta	Placenta
47	chr2:152623200-152624000	Enhancers	NHLF	lung
48	chr2:152623200-152624400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:152623200-152624400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:152623200-152624400	Enhancers	NHDF-Ad	bronchial

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