Variant report

Variant	rs12333625
Chromosome Location	chr7:128259082-128259083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10085435	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10224862	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10227608	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10233059	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10241185	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10242806	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10250369	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10253131	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259359	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10261037	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10269844	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10270431	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270985	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10276810	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10954205	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs11760285	0.89[ASN][1000 genomes]
rs11761312	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11766319	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11768485	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs11769546	0.89[ASN][1000 genomes]
rs11770604	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11771884	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12530672	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12535238	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12537208	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13224613	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13224784	0.81[AFR][1000 genomes]
rs13233377	0.84[EUR][1000 genomes]
rs13235219	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237593	0.81[EUR][1000 genomes]
rs13246302	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28496126	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28521260	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28521711	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs339070	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs339079	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs339093	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs34120723	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34125589	0.88[EUR][1000 genomes]
rs34490491	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34751214	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34887739	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34942906	0.89[ASN][1000 genomes]
rs35247963	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35603038	0.89[ASN][1000 genomes]
rs35825132	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35871589	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3816421	0.90[EUR][1000 genomes]
rs4289745	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55953818	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57049631	0.83[AFR][1000 genomes]
rs60029447	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6467181	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6467184	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6467201	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467205	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6943737	0.84[EUR][1000 genomes]
rs6946179	0.84[EUR][1000 genomes]
rs6958343	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6960296	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6961754	1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6963982	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6967393	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969343	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6971819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6972787	0.84[EUR][1000 genomes]
rs6976879	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6977126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71546785	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71546786	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71546790	0.89[ASN][1000 genomes]
rs71548762	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71578280	0.89[ASN][1000 genomes]
rs7776915	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7777625	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7778169	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7778731	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7786772	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7787764	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7790478	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7794447	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7798172	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7801053	0.81[AFR][1000 genomes]
rs7804472	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7810047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs7811083	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs9690225	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9690934	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9692416	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9768808	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9769753	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[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	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv970938	chr7:128256300-128300276	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs12333625	CICP14	cis	Artery Tibial	GTEx
rs12333625	RP11-274B21.10	cis	Esophagus Mucosa	GTEx
rs12333625	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs12333625	CICP14	cis	Muscle Skeletal	GTEx
rs12333625	RP11-274B21.10	cis	Thyroid	GTEx
rs12333625	CICP14	cis	Thyroid	GTEx
rs12333625	CICP14	cis	Nerve Tibial	GTEx
rs12333625	CICP14	cis	Skin Sun Exposed Lower leg	GTEx
rs12333625	CICP14	cis	Esophagus Muscularis	GTEx
rs12333625	CICP14	cis	lung	GTEx
rs12333625	RP11-274B21.10	cis	Nerve Tibial	GTEx
rs12333625	RP11-274B21.10	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128233400-128259600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:128233400-128272000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:128234600-128271200	Weak transcription	Fetal Lung	lung
4	chr7:128237800-128290400	Weak transcription	HepG2	liver
5	chr7:128239200-128287200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:128239200-128296400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:128239400-128271200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:128239600-128262400	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:128240200-128269400	Weak transcription	Primary B cells from cord blood	blood
10	chr7:128242600-128292800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:128246600-128284800	Weak transcription	Stomach Mucosa	stomach
12	chr7:128249600-128259400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:128249600-128259600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:128249600-128259800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:128249600-128268600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:128249600-128271000	Weak transcription	A549	lung
17	chr7:128249600-128271800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:128249600-128272000	Weak transcription	Fetal Kidney	kidney
19	chr7:128249600-128278600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:128249600-128283200	Weak transcription	Hela-S3	cervix
21	chr7:128249600-128285800	Weak transcription	Fetal Heart	heart
22	chr7:128249600-128286800	Weak transcription	HSMMtube	muscle
23	chr7:128249600-128289000	Weak transcription	NHEK	skin
24	chr7:128249600-128293400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:128249600-128295200	Weak transcription	NH-A	brain
26	chr7:128249600-128297600	Weak transcription	HUVEC	blood vessel
27	chr7:128249600-128308400	Weak transcription	HSMM	muscle
28	chr7:128249600-128312200	Weak transcription	Psoas Muscle	Psoas
29	chr7:128249600-128319600	Weak transcription	NHLF	lung
30	chr7:128250200-128263200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:128250200-128274600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr7:128250200-128274800	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:128251400-128260200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:128252000-128262800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:128252200-128287600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:128253600-128260400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:128253800-128264000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr7:128253800-128274000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr7:128254200-128263800	Strong transcription	Fetal Thymus	thymus
40	chr7:128254200-128272600	Strong transcription	Liver	Liver
41	chr7:128254200-128274600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:128254800-128276600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:128255000-128263600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:128255200-128274600	Strong transcription	Placenta	Placenta
45	chr7:128255400-128262800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:128255400-128263800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr7:128255400-128274600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:128256000-128263800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:128256000-128266800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr7:128256000-128272600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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