Variant report

Variant	rs6967393
Chromosome Location	chr7:128262425-128262426
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:87)

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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
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	0.91[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	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10954205	0.91[EUR][1000 genomes]
rs11760285	0.89[ASN][1000 genomes]
rs11761312	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11766319	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11768485	0.87[EUR][1000 genomes]
rs11769546	0.89[ASN][1000 genomes]
rs11771884	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12333625	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233377	0.84[EUR][1000 genomes]
rs13235219	0.97[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	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13247746	0.81[AFR][1000 genomes]
rs2402929	0.98[MKK][hapmap]
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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs339079	0.82[EUR][1000 genomes]
rs339093	0.84[EUR][1000 genomes]
rs34120723	0.95[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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35271745	1.00[MKK][hapmap]
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	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	0.86[AFR][1000 genomes]
rs60029447	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6467181	0.86[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	0.84[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	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6961754	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6963982	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6969343	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6971819	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6972787	0.84[EUR][1000 genomes]
rs6976879	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6977126	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	0.88[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	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7798172	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7801053	0.83[AFR][1000 genomes]
rs7804472	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7810047	0.84[EUR][1000 genomes]
rs7811083	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	0.97[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:3 , 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
3	nsv971404	chr7:128262010-128266439	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs6967393	CICP14	cis	Esophagus Muscularis	GTEx
rs6967393	RP11-274B21.10	cis	Thyroid	GTEx
rs6967393	RP11-274B21.10	cis	Skin Sun Exposed Lower leg	GTEx
rs6967393	RP11-274B21.10	cis	Esophagus Mucosa	GTEx
rs6967393	CICP14	cis	Skin Sun Exposed Lower leg	GTEx
rs6967393	CICP14	cis	Thyroid	GTEx
rs6967393	CICP14	cis	Artery Tibial	GTEx
rs6967393	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs6967393	CICP14	cis	Nerve Tibial	GTEx
rs6967393	CICP14	cis	lung	GTEx
rs6967393	RP11-274B21.10	cis	Nerve Tibial	GTEx
rs6967393	CICP14	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128233400-128272000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:128234600-128271200	Weak transcription	Fetal Lung	lung
3	chr7:128237800-128290400	Weak transcription	HepG2	liver
4	chr7:128239200-128287200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:128239200-128296400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:128239400-128271200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:128240200-128269400	Weak transcription	Primary B cells from cord blood	blood
8	chr7:128242600-128292800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:128246600-128284800	Weak transcription	Stomach Mucosa	stomach
10	chr7:128249600-128268600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:128249600-128271000	Weak transcription	A549	lung
12	chr7:128249600-128271800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:128249600-128272000	Weak transcription	Fetal Kidney	kidney
14	chr7:128249600-128278600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:128249600-128283200	Weak transcription	Hela-S3	cervix
16	chr7:128249600-128285800	Weak transcription	Fetal Heart	heart
17	chr7:128249600-128286800	Weak transcription	HSMMtube	muscle
18	chr7:128249600-128289000	Weak transcription	NHEK	skin
19	chr7:128249600-128293400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:128249600-128295200	Weak transcription	NH-A	brain
21	chr7:128249600-128297600	Weak transcription	HUVEC	blood vessel
22	chr7:128249600-128308400	Weak transcription	HSMM	muscle
23	chr7:128249600-128312200	Weak transcription	Psoas Muscle	Psoas
24	chr7:128249600-128319600	Weak transcription	NHLF	lung
25	chr7:128250200-128263200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:128250200-128274600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr7:128250200-128274800	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:128252000-128262800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:128252200-128287600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:128253800-128264000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr7:128253800-128274000	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:128254200-128263800	Strong transcription	Fetal Thymus	thymus
33	chr7:128254200-128272600	Strong transcription	Liver	Liver
34	chr7:128254200-128274600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:128254800-128276600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:128255000-128263600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:128255200-128274600	Strong transcription	Placenta	Placenta
38	chr7:128255400-128262800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:128255400-128263800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr7:128255400-128274600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:128256000-128263800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:128256000-128266800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr7:128256000-128272600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:128256000-128274600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:128256400-128274600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:128256600-128270200	Weak transcription	NHDF-Ad	bronchial
47	chr7:128256800-128288600	Weak transcription	Osteobl	bone
48	chr7:128257400-128263800	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr7:128257400-128264600	Strong transcription	Fetal Intestine Small	intestine
50	chr7:128257600-128262600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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