Variant report

Variant	rs10231860
Chromosome Location	chr7:66221489-66221490
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10081172	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10224189	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10224536	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10225392	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10226191	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10226294	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10228381	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10229580	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10234640	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10234747	0.83[EUR][1000 genomes]
rs10235037	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239200	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10240153	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10240582	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10241395	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10243608	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244459	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10244602	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10245017	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10247324	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10247815	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10247852	0.85[ASN][1000 genomes]
rs10255813	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10256117	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10258628	0.83[EUR][1000 genomes]
rs10265154	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10266041	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10266792	0.80[EUR][1000 genomes]
rs10267834	0.82[EUR][1000 genomes]
rs10270326	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10271177	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10273320	0.83[EUR][1000 genomes]
rs10273402	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10277231	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10278343	0.83[EUR][1000 genomes]
rs10278763	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10280717	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10281544	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10282310	0.83[EUR][1000 genomes]
rs10282522	0.87[EUR][1000 genomes]
rs10479728	0.83[EUR][1000 genomes]
rs1060527	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1064795	0.83[EUR][1000 genomes]
rs12234826	0.83[EUR][1000 genomes]
rs12333749	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13437994	0.80[EUR][1000 genomes]
rs13438432	0.83[EUR][1000 genomes]
rs16868546	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17138274	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17747927	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17748115	0.80[EUR][1000 genomes]
rs1882656	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1882657	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1895134	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2013707	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28368585	0.83[EUR][1000 genomes]
rs28375318	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28379824	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28455065	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28460006	0.83[EUR][1000 genomes]
rs28474923	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28526115	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28533332	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28547918	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28607736	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28634091	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28657758	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28663128	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3764904	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3778907	0.83[EUR][1000 genomes]
rs3778908	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3800814	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3814464	0.87[ASN][1000 genomes]
rs3823607	0.87[EUR][1000 genomes]
rs3823609	0.83[EUR][1000 genomes]
rs3962133	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4587218	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57774708	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57875851	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57902746	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58973756	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59079543	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59693594	0.80[EUR][1000 genomes]
rs60026498	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61700307	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6964080	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6973897	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6974601	0.83[EUR][1000 genomes]
rs73133809	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73133816	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73133851	0.84[EUR][1000 genomes]
rs73133859	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73133865	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135905	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135907	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135909	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135917	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135922	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135925	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135950	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135960	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135973	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73137960	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73137963	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73137978	0.90[ASN][1000 genomes]
rs73139941	0.87[EUR][1000 genomes]
rs73139976	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73141980	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73145924	0.80[EUR][1000 genomes]
rs73152719	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7785883	0.81[AMR][1000 genomes]
rs9654843	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10231860	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx
rs10231860	GS1-124K5.12	cis	Artery Tibial	GTEx
rs10231860	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66206800-66223400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:66206800-66232600	Weak transcription	Primary T cells from cord blood	blood
3	chr7:66206800-66238800	Weak transcription	Aorta	Aorta
4	chr7:66207000-66222200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:66207000-66227400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:66207000-66227400	Weak transcription	Fetal Stomach	stomach
7	chr7:66207000-66230600	Weak transcription	Fetal Intestine Large	intestine
8	chr7:66207000-66230600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:66207000-66234000	Weak transcription	Fetal Thymus	thymus
10	chr7:66207000-66238400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:66207000-66238400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:66207000-66255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:66207200-66223400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:66207600-66223200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:66207600-66223400	Weak transcription	K562	blood
16	chr7:66207600-66239800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:66207800-66225800	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:66208000-66230600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:66208000-66232400	Weak transcription	Thymus	Thymus
20	chr7:66208000-66236800	Weak transcription	Dnd41	blood
21	chr7:66208000-66238000	Weak transcription	A549	lung
22	chr7:66208000-66238600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:66208000-66238600	Weak transcription	Brain Germinal Matrix	brain
24	chr7:66208000-66240800	Weak transcription	HSMMtube	muscle
25	chr7:66208000-66241800	Weak transcription	Hela-S3	cervix
26	chr7:66209400-66239000	Weak transcription	HMEC	breast
27	chr7:66211000-66223400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr7:66211000-66228600	Weak transcription	Fetal Lung	lung
29	chr7:66212000-66236800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:66213200-66234400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:66213400-66230600	Weak transcription	NH-A	brain
32	chr7:66214000-66223400	Weak transcription	Small Intestine	intestine
33	chr7:66214200-66223000	Weak transcription	Primary B cells from cord blood	blood
34	chr7:66214200-66223200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:66214200-66224000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:66214200-66224000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:66214200-66225800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:66214200-66234200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:66214400-66223000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr7:66214400-66223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:66214400-66223400	Weak transcription	HSMM	muscle
42	chr7:66214400-66225000	Weak transcription	Ovary	ovary
43	chr7:66214400-66229600	Weak transcription	Brain Hippocampus Middle	brain
44	chr7:66214400-66234200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:66214400-66236600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:66214400-66239400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr7:66214600-66222800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:66214600-66223000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:66214600-66223400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:66214600-66223800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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