Variant report

Variant	rs13237593
Chromosome Location	chr7:128329330-128329331
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128320147..128324613-chr7:128325598..128330219,5	K562	blood:

Variant related genes	Relation type
ENSG00000205085	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10085435	0.81[AMR][1000 genomes]
rs10224862	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10233059	0.86[AMR][1000 genomes]
rs10242806	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253131	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10270431	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10270985	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10274878	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10276810	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10954205	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11761312	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768485	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11771884	0.86[AMR][1000 genomes]
rs12333625	0.81[EUR][1000 genomes]
rs12535238	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536288	0.89[ASN][1000 genomes]
rs12706858	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13224613	0.81[EUR][1000 genomes]
rs13233377	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235219	0.81[EUR][1000 genomes]
rs28521711	0.80[EUR][1000 genomes]
rs339070	1.00[ASN][1000 genomes]
rs339071	1.00[ASN][1000 genomes]
rs339074	1.00[ASN][1000 genomes]
rs339079	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339093	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34125589	0.83[AMR][1000 genomes]
rs34490491	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34751214	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34757247	0.82[AFR][1000 genomes]
rs34960471	0.81[AFR][1000 genomes]
rs35247963	0.83[EUR][1000 genomes]
rs35825132	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35871589	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3816421	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4289745	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55953818	0.86[AMR][1000 genomes]
rs60029447	0.86[AMR][1000 genomes]
rs6467201	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6467205	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6943737	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946179	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960296	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6961754	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6967393	0.81[EUR][1000 genomes]
rs6971819	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6972787	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976879	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977126	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71546785	0.83[AMR][1000 genomes]
rs71546786	0.86[AMR][1000 genomes]
rs71548762	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778169	0.83[AMR][1000 genomes]
rs7778731	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7787764	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7790478	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7804472	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7810047	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811083	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9690934	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9692416	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9768808	0.83[EUR][1000 genomes]
rs9769753	0.86[AMR][1000 genomes];0.80[EUR][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	nsv966738	chr7:128325654-128339129	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs13237593	CICP14	cis	lung	GTEx
rs13237593	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs13237593	CICP14	cis	Thyroid	GTEx
rs13237593	RP11-274B21.10	cis	Thyroid	GTEx
rs13237593	CICP14	cis	Nerve Tibial	GTEx
rs13237593	CICP14	cis	Skin Sun Exposed Lower leg	GTEx
rs13237593	CICP14	cis	Muscle Skeletal	GTEx
rs13237593	CICP14	cis	Esophagus Muscularis	GTEx

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128302400-128337200	Weak transcription	Gastric	stomach
2	chr7:128310000-128329400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:128313400-128329400	Weak transcription	Esophagus	oesophagus
4	chr7:128313400-128331200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:128313600-128337200	Weak transcription	Right Atrium	heart
6	chr7:128320200-128332000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:128320200-128337200	Weak transcription	NHLF	lung
8	chr7:128320400-128331000	Weak transcription	Brain Angular Gyrus	brain
9	chr7:128320400-128331000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:128320800-128329400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:128321000-128332000	Weak transcription	Fetal Brain Male	brain
12	chr7:128322200-128333000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:128323400-128337200	Weak transcription	Left Ventricle	heart
14	chr7:128324200-128337200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:128324400-128330200	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:128324400-128330600	Weak transcription	Osteobl	bone
17	chr7:128324400-128337200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:128324600-128330800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:128324800-128330800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:128325600-128330000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:128325600-128330000	Weak transcription	Fetal Stomach	stomach
22	chr7:128325600-128333800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:128325600-128337000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:128325800-128330200	Weak transcription	Ovary	ovary
25	chr7:128326000-128330600	Weak transcription	Brain Hippocampus Middle	brain
26	chr7:128326000-128337200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:128326800-128331200	Weak transcription	Fetal Brain Female	brain
28	chr7:128328000-128330200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:128328000-128330800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:128328000-128331200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:128328000-128331600	Weak transcription	Aorta	Aorta
32	chr7:128328000-128332800	Weak transcription	Brain Anterior Caudate	brain
33	chr7:128328000-128333400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:128328000-128334000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:128328000-128334800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:128328000-128337000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:128328000-128337200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:128328000-128337200	Weak transcription	HSMMtube	muscle
39	chr7:128328000-128337200	Weak transcription	NH-A	brain
40	chr7:128328200-128337000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:128328800-128337200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:128329000-128329400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:128329000-128337200	Weak transcription	HSMM	muscle
44	chr7:128329200-128329400	ZNF genes & repeats	Pancreas	Pancrea
45	chr7:128329200-128329800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland

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