Variant report

Variant	rs10270985
Chromosome Location	chr7:128294338-128294339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10085435	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10224862	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10227608	0.83[AMR][1000 genomes]
rs10233059	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10241185	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10242806	0.83[EUR][1000 genomes]
rs10250369	0.80[AMR][1000 genomes]
rs10253131	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10259359	0.81[EUR][1000 genomes]
rs10261037	0.83[AMR][1000 genomes]
rs10269844	0.83[AMR][1000 genomes]
rs10270431	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10274878	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10276810	0.85[EUR][1000 genomes]
rs10954205	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11761312	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11768485	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12333625	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12535238	0.87[EUR][1000 genomes]
rs12537208	0.80[AMR][1000 genomes]
rs13224613	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13233377	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13235219	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13237593	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28496126	0.83[AMR][1000 genomes]
rs28521260	0.83[AMR][1000 genomes]
rs28521711	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs339079	0.85[EUR][1000 genomes]
rs339093	0.87[EUR][1000 genomes]
rs34120723	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34490491	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34751214	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34960471	0.82[AFR][1000 genomes]
rs35247963	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35825132	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35871589	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3816421	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4289745	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55953818	0.90[AMR][1000 genomes]
rs60029447	0.90[AMR][1000 genomes]
rs6467201	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6467205	0.92[EUR][1000 genomes]
rs6943737	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6946179	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6958343	0.83[AMR][1000 genomes]
rs6960296	0.94[EUR][1000 genomes]
rs6961754	0.91[EUR][1000 genomes]
rs6967393	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6969343	0.83[AMR][1000 genomes]
rs6971819	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6972787	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6976879	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6977126	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71546785	0.86[AMR][1000 genomes]
rs71546786	0.90[AMR][1000 genomes]
rs71548762	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7776915	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7778169	0.86[AMR][1000 genomes]
rs7778731	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7786772	0.83[AMR][1000 genomes]
rs7787764	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7798172	0.83[AMR][1000 genomes]
rs7804472	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7810047	0.87[EUR][1000 genomes]
rs7811083	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9690225	0.83[AMR][1000 genomes]
rs9690934	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9692416	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9768808	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9769753	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv981680	chr7:128288269-128298277	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv993870	chr7:128292907-128295065	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs10270985	CICP14	cis	Thyroid	GTEx
rs10270985	METTL2B	cis	Artery Tibial	GTEx
rs10270985	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs10270985	RP11-274B21.10	cis	Thyroid	GTEx
rs10270985	METTL2B	cis	Skin Sun Exposed Lower leg	GTEx
rs10270985	CICP14	cis	Muscle Skeletal	GTEx
rs10270985	CICP14	cis	lung	GTEx
rs10270985	CICP14	cis	Esophagus Muscularis	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128239200-128296400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:128249600-128295200	Weak transcription	NH-A	brain
3	chr7:128249600-128297600	Weak transcription	HUVEC	blood vessel
4	chr7:128249600-128308400	Weak transcription	HSMM	muscle
5	chr7:128249600-128312200	Weak transcription	Psoas Muscle	Psoas
6	chr7:128249600-128319600	Weak transcription	NHLF	lung
7	chr7:128260000-128296400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:128260400-128300600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:128272200-128300000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:128274200-128296400	Weak transcription	Colonic Mucosa	Colon
11	chr7:128275600-128295000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:128279600-128296200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:128279800-128296400	Weak transcription	Brain Angular Gyrus	brain
14	chr7:128279800-128300000	Weak transcription	Dnd41	blood
15	chr7:128279800-128301400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:128282400-128295400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:128282400-128301400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:128282400-128312400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:128282600-128300000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:128284000-128304800	Weak transcription	Primary T cells from cord blood	blood
21	chr7:128284200-128294600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:128284200-128301400	Weak transcription	Fetal Lung	lung
23	chr7:128284200-128313200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:128284400-128294400	Weak transcription	Small Intestine	intestine
25	chr7:128284400-128299200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr7:128284400-128313200	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:128285800-128296000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:128286400-128298400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr7:128287400-128301400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:128288400-128294400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:128288800-128296200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr7:128289000-128301400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:128290000-128295000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:128290000-128295000	Strong transcription	Liver	Liver
35	chr7:128290000-128295200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:128290600-128294600	Strong transcription	Fetal Brain Female	brain
37	chr7:128290600-128295000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:128290600-128295000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:128290600-128295000	Strong transcription	Pancreas	Pancrea
40	chr7:128290600-128295400	Strong transcription	Fetal Intestine Small	intestine
41	chr7:128290600-128295800	Strong transcription	Fetal Stomach	stomach
42	chr7:128290800-128294800	Strong transcription	Thymus	Thymus
43	chr7:128290800-128295000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr7:128290800-128295000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:128290800-128295000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:128290800-128295000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr7:128291000-128294800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr7:128291000-128295000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr7:128291000-128295000	Strong transcription	Lung	lung
50	chr7:128291200-128294600	Strong transcription	Spleen	Spleen

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