Variant report

Variant	rs10276810
Chromosome Location	chr7:128320721-128320722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128320147..128324613-chr7:128325598..128330219,5	K562	blood:
2	chr7:128319097..128321424-chr7:128321537..128323063,2	MCF-7	breast:
3	chr7:128320142..128322426-chr7:128325282..128327542,2	K562	blood:
4	chr7:128320276..128322539-chr7:128327874..128330714,2	K562	blood:
5	chr7:128319091..128321121-chr7:128321713..128323263,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270810	Chromatin interaction
ENSG00000205085	Chromatin interaction
ENSG00000271344	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10224862	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10233059	0.80[EUR][1000 genomes]
rs10241185	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10242806	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10253131	0.82[EUR][1000 genomes]
rs10270431	0.82[EUR][1000 genomes]
rs10270985	0.85[EUR][1000 genomes]
rs10274878	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10954205	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11761312	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11766319	0.82[AMR][1000 genomes]
rs11768485	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12333625	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12535238	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12536288	0.84[ASN][1000 genomes]
rs12706858	0.95[ASN][1000 genomes]
rs13224613	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13233377	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13235219	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13237593	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28521711	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs339070	0.95[ASN][1000 genomes]
rs339071	0.95[ASN][1000 genomes]
rs339074	0.95[ASN][1000 genomes]
rs339079	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs339093	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34120723	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34490491	0.82[EUR][1000 genomes]
rs34751214	0.82[EUR][1000 genomes]
rs35247963	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35336068	0.81[AFR][1000 genomes]
rs35825132	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35871589	0.83[EUR][1000 genomes]
rs3816421	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4289745	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6467201	0.82[EUR][1000 genomes]
rs6467205	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6943737	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6946179	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6960296	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6961754	0.97[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs6967393	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6971819	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6972787	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6976879	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6977126	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71548762	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7778731	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7787764	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7790478	0.95[ASN][1000 genomes]
rs7804472	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7810047	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7811083	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9690934	0.82[EUR][1000 genomes]
rs9692416	0.82[EUR][1000 genomes]
rs9768808	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9769753	0.84[EUR][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
rs10276810	CICP14	cis	Thyroid	GTEx
rs10276810	RP11-274B21.10	cis	Nerve Tibial	GTEx
rs10276810	CICP14	cis	Skin Sun Exposed Lower leg	GTEx
rs10276810	RP11-274B21.10	cis	Esophagus Mucosa	GTEx
rs10276810	RP11-274B21.10	cis	Skin Sun Exposed Lower leg	GTEx
rs10276810	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs10276810	RP11-274B21.10	cis	Thyroid	GTEx
rs10276810	CICP14	cis	Nerve Tibial	GTEx
rs10276810	CICP14	cis	Esophagus Muscularis	GTEx
rs10276810	CICP14	cis	lung	GTEx
rs10276810	CICP14	cis	Artery Tibial	GTEx
rs10276810	CICP14	cis	Muscle Skeletal	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128294800-128328000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:128295000-128325200	Weak transcription	Brain Hippocampus Middle	brain
3	chr7:128295400-128325400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:128298600-128329200	Weak transcription	Pancreas	Pancrea
5	chr7:128302400-128323200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:128302400-128323200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:128302400-128324000	Weak transcription	Aorta	Aorta
8	chr7:128302400-128337200	Weak transcription	Gastric	stomach
9	chr7:128302600-128323000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:128302600-128327800	Weak transcription	Placenta	Placenta
11	chr7:128302800-128321800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:128305000-128323000	Weak transcription	NHDF-Ad	bronchial
13	chr7:128308400-128323800	Weak transcription	A549	lung
14	chr7:128309000-128323000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:128310000-128329400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:128310600-128323200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:128311200-128327000	Weak transcription	HSMM	muscle
18	chr7:128311600-128327800	Weak transcription	Brain Substantia Nigra	brain
19	chr7:128312200-128322800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:128312400-128325400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:128312600-128325400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:128313200-128321600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:128313200-128325200	Weak transcription	Ovary	ovary
24	chr7:128313400-128322000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:128313400-128329400	Weak transcription	Esophagus	oesophagus
26	chr7:128313400-128331200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr7:128313600-128322200	Weak transcription	Brain Germinal Matrix	brain
28	chr7:128313600-128327200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:128313600-128327600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:128313600-128337200	Weak transcription	Right Atrium	heart
31	chr7:128313800-128322200	Weak transcription	HSMMtube	muscle
32	chr7:128313800-128322400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:128313800-128323000	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:128316400-128322400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr7:128316600-128323000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:128317800-128323000	Weak transcription	Fetal Stomach	stomach
37	chr7:128318200-128327600	Weak transcription	NHEK	skin
38	chr7:128318200-128328000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:128318400-128322600	Weak transcription	NH-A	brain
40	chr7:128318400-128325800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:128318600-128322000	Weak transcription	Brain Anterior Caudate	brain
42	chr7:128318600-128324200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:128319200-128325000	Weak transcription	Small Intestine	intestine
44	chr7:128319400-128328000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:128319800-128328000	Weak transcription	Fetal Intestine Small	intestine
46	chr7:128320200-128323000	Weak transcription	Adipose Nuclei	Adipose
47	chr7:128320200-128323000	Weak transcription	Fetal Brain Female	brain
48	chr7:128320200-128332000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:128320200-128337200	Weak transcription	NHLF	lung
50	chr7:128320400-128321800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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