Variant report

Variant	rs6960296
Chromosome Location	chr7:128303564-128303565
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr7:128303330-128303650	K562	blood:	n/a	n/a
2	POLR2A	chr7:128303539-128303618	HUVEC	blood vessel:	n/a	n/a
3	CBX3	chr7:128303241-128303647	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128297617..128300148-chr7:128302493..128306343,3	K562	blood:

Variant related genes	Relation type
CICP14	TF binding region
ENSG00000271553	TF binding region
ENSG00000271529	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10085435	0.87[EUR][1000 genomes]
rs10224862	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10227608	0.84[EUR][1000 genomes]
rs10233059	0.89[EUR][1000 genomes]
rs10241185	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10242806	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10250369	0.83[EUR][1000 genomes]
rs10253131	0.91[EUR][1000 genomes]
rs10259359	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10269844	0.82[EUR][1000 genomes]
rs10270431	0.91[EUR][1000 genomes]
rs10270985	0.94[EUR][1000 genomes]
rs10274878	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10276810	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10954205	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761312	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11766319	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11768485	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771884	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12333625	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12535238	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12536288	1.00[ASN][1000 genomes]
rs12537208	0.83[EUR][1000 genomes]
rs12706858	0.89[ASN][1000 genomes]
rs13224613	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13233377	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13235219	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13237593	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13246302	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28496126	0.84[EUR][1000 genomes]
rs28521260	0.84[EUR][1000 genomes]
rs28521711	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs339070	0.89[ASN][1000 genomes]
rs339071	0.89[ASN][1000 genomes]
rs339074	0.89[ASN][1000 genomes]
rs339079	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs339093	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34120723	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34490491	0.91[EUR][1000 genomes]
rs34751214	0.91[EUR][1000 genomes]
rs34757247	0.84[ASN][1000 genomes]
rs34887739	0.82[AMR][1000 genomes]
rs34942906	0.89[ASN][1000 genomes]
rs34960471	0.90[ASN][1000 genomes]
rs35247963	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35336068	0.83[AFR][1000 genomes]
rs35603038	0.89[ASN][1000 genomes]
rs35825132	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35871589	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3816421	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4289745	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55953818	0.84[EUR][1000 genomes]
rs60029447	0.82[EUR][1000 genomes]
rs6467181	0.85[AMR][1000 genomes]
rs6467184	0.84[EUR][1000 genomes]
rs6467201	0.91[EUR][1000 genomes]
rs6467205	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6943737	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6946179	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6954329	0.80[AFR][1000 genomes]
rs6958343	0.82[EUR][1000 genomes]
rs6961754	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6963982	0.82[EUR][1000 genomes]
rs6967393	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6969343	0.82[EUR][1000 genomes]
rs6971819	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6972787	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6976879	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6977126	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71546785	0.82[EUR][1000 genomes]
rs71546786	0.84[EUR][1000 genomes]
rs71546790	0.89[ASN][1000 genomes]
rs71548762	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7776915	0.88[EUR][1000 genomes]
rs7777625	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7778169	0.84[EUR][1000 genomes]
rs7778731	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7786772	0.82[EUR][1000 genomes]
rs7787764	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790478	0.89[ASN][1000 genomes]
rs7798172	0.84[EUR][1000 genomes]
rs7804472	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7810047	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7811083	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9690225	0.82[EUR][1000 genomes]
rs9690934	0.91[EUR][1000 genomes]
rs9692416	0.91[EUR][1000 genomes]
rs9768808	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9769753	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs6960296	CICP14	cis	Esophagus Muscularis	GTEx
rs6960296	CICP14	cis	Muscle Skeletal	GTEx
rs6960296	CICP14	cis	Artery Tibial	GTEx
rs6960296	RP11-274B21.10	cis	Nerve Tibial	GTEx
rs6960296	CICP14	cis	Thyroid	GTEx
rs6960296	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs6960296	RP11-274B21.10	cis	Thyroid	GTEx
rs6960296	CICP14	cis	lung	GTEx
rs6960296	RP11-274B21.10	cis	Esophagus Mucosa	GTEx
rs6960296	CICP14	cis	Skin Sun Exposed Lower leg	GTEx
rs6960296	RP11-274B21.10	cis	Skin Sun Exposed Lower leg	GTEx
rs6960296	CICP14	cis	Nerve Tibial	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128249600-128308400	Weak transcription	HSMM	muscle
2	chr7:128249600-128312200	Weak transcription	Psoas Muscle	Psoas
3	chr7:128249600-128319600	Weak transcription	NHLF	lung
4	chr7:128282400-128312400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:128284000-128304800	Weak transcription	Primary T cells from cord blood	blood
6	chr7:128284200-128313200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:128284400-128313200	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:128293600-128312200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:128294000-128313200	Weak transcription	Brain Germinal Matrix	brain
10	chr7:128294800-128328000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:128295000-128304800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:128295000-128310400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:128295000-128311000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:128295000-128319800	Weak transcription	Left Ventricle	heart
15	chr7:128295000-128319800	Weak transcription	Right Ventricle	heart
16	chr7:128295000-128325200	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:128295400-128325400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:128298600-128329200	Weak transcription	Pancreas	Pancrea
19	chr7:128300200-128313200	Weak transcription	Right Atrium	heart
20	chr7:128301800-128310600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:128302000-128304600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:128302000-128308400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:128302200-128318200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:128302400-128312000	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:128302400-128319800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:128302400-128323200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:128302400-128323200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:128302400-128324000	Weak transcription	Aorta	Aorta
29	chr7:128302400-128337200	Weak transcription	Gastric	stomach
30	chr7:128302600-128310600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:128302600-128312800	Weak transcription	Fetal Stomach	stomach
32	chr7:128302600-128323000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:128302600-128327800	Weak transcription	Placenta	Placenta
34	chr7:128302800-128321800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:128303000-128312800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:128303400-128303600	ZNF genes & repeats	Fetal Brain Female	brain

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