Variant report

Variant	rs10224862
Chromosome Location	chr7:128332247-128332248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128331712..128335200-chr7:128335875..128338019,5	K562	blood:
2	chr7:128331101..128332933-chr7:128334732..128337486,2	MCF-7	breast:
3	chr7:128331833..128334672-chr7:128377724..128379634,3	K562	blood:

Variant related genes	Relation type
ENSG00000201041	Chromatin interaction
ENSG00000252866	Chromatin interaction
ENSG00000128595	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10085435	0.81[EUR][1000 genomes]
rs10233059	0.82[EUR][1000 genomes]
rs10241185	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10242806	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253131	0.84[EUR][1000 genomes]
rs10259359	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10270431	0.84[EUR][1000 genomes]
rs10270985	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10274878	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10276810	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10954205	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11761312	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766319	0.86[AMR][1000 genomes]
rs11768485	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12333625	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12535238	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536288	0.89[ASN][1000 genomes]
rs12706858	1.00[ASN][1000 genomes]
rs13224613	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13233377	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235219	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13237593	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28521711	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs339070	1.00[ASN][1000 genomes]
rs339071	1.00[ASN][1000 genomes]
rs339074	1.00[ASN][1000 genomes]
rs339079	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339093	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34120723	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34490491	0.84[EUR][1000 genomes]
rs34751214	0.84[EUR][1000 genomes]
rs35247963	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35336068	0.90[AFR][1000 genomes]
rs35825132	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35871589	0.85[EUR][1000 genomes]
rs3816421	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4289745	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6467181	0.82[AMR][1000 genomes]
rs6467201	0.84[EUR][1000 genomes]
rs6467205	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6943737	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946179	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954329	0.93[AFR][1000 genomes]
rs6960296	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6961754	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6967393	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6971819	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6972787	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976879	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977126	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71548762	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776915	0.81[EUR][1000 genomes]
rs7778731	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7787764	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7790478	1.00[ASN][1000 genomes]
rs7804472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7810047	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811083	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9690934	0.84[EUR][1000 genomes]
rs9692416	0.84[EUR][1000 genomes]
rs9768808	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9769753	0.84[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:11)

SNP	Gene	Cis/trans	Tissue	Source
rs10224862	CICP14	cis	Esophagus Muscularis	GTEx
rs10224862	CICP14	cis	lung	GTEx
rs10224862	CICP14	cis	Nerve Tibial	GTEx
rs10224862	RP11-274B21.10	cis	Nerve Tibial	GTEx
rs10224862	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs10224862	RP11-274B21.10	cis	Skin Sun Exposed Lower leg	GTEx
rs10224862	RP11-274B21.10	cis	Esophagus Mucosa	GTEx
rs10224862	CICP14	cis	Thyroid	GTEx
rs10224862	RP11-274B21.10	cis	Thyroid	GTEx
rs10224862	CICP14	cis	Skin Sun Exposed Lower leg	GTEx
rs10224862	CICP14	cis	Muscle Skeletal	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128302400-128337200	Weak transcription	Gastric	stomach
2	chr7:128313600-128337200	Weak transcription	Right Atrium	heart
3	chr7:128320200-128337200	Weak transcription	NHLF	lung
4	chr7:128322200-128333000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:128323400-128337200	Weak transcription	Left Ventricle	heart
6	chr7:128324200-128337200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:128324400-128337200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:128325600-128333800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:128325600-128337000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:128326000-128337200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:128328000-128332800	Weak transcription	Brain Anterior Caudate	brain
12	chr7:128328000-128333400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:128328000-128334000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:128328000-128334800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:128328000-128337000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:128328000-128337200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:128328000-128337200	Weak transcription	HSMMtube	muscle
18	chr7:128328000-128337200	Weak transcription	NH-A	brain
19	chr7:128328200-128337000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:128328800-128337200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:128329000-128337200	Weak transcription	HSMM	muscle
22	chr7:128329400-128333400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:128329400-128337200	Weak transcription	Pancreas	Pancrea
24	chr7:128332000-128332400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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