Variant report

Variant	rs66835971
Chromosome Location	chr2:172677459-172677460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172669767..172671872-chr2:172676820..172679924,3	K562	blood:
2	chr2:172675309..172677546-chr2:172961280..172963314,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 11 )

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

rs_ID	r²[population]
rs10166005	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10167419	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174525	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184866	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10194102	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10200608	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10201419	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10204502	0.88[AMR][1000 genomes]
rs10204622	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10206062	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10207085	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10432423	0.81[EUR][1000 genomes]
rs10497374	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10803863	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1113389	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678984	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11757	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886820	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11897196	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11904009	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12053003	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12185567	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12692970	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12692973	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12692974	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12692978	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13017585	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13018768	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13022113	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13419987	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13429113	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13429409	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1474074	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554166	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1973706	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292815	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2357061	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2674484	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2678155	0.86[AMR][1000 genomes]
rs312916	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs312918	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs312919	0.88[AMR][1000 genomes]
rs312921	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs312924	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs312925	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34358700	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34542126	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35379278	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35391289	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35549875	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35854280	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36057702	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3770445	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770451	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770452	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3795999	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4667693	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4667694	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4668412	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4668414	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6433311	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6433314	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705200	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709156	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6710698	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67204065	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721680	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6722757	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6724337	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6725388	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6738445	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6745143	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754817	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757773	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6758704	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759575	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71013062	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7355523	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7355594	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562356	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7572215	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7573003	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7586207	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597387	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7604918	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7608403	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs908670	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs908671	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs973889	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[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	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs66835971	AC068039.4	cis	Esophagus Muscularis	GTEx
rs66835971	AC068039.4	cis	Adipose Subcutaneous	GTEx
rs66835971	AC068039.4	cis	lung	GTEx
rs66835971	AC068039.4	cis	Skin Sun Exposed Lower leg	GTEx
rs66835971	AC068039.4	cis	Stomach	GTEx
rs66835971	AC068039.4	cis	Whole Blood	GTEx
rs66835971	AC068039.4	cis	Nerve Tibial	GTEx
rs66835971	AC068039.4	cis	Heart Left Ventricle	GTEx
rs66835971	AC068039.4	cis	Thyroid	GTEx
rs66835971	AC068039.4	cis	Esophagus Mucosa	GTEx
rs66835971	AC068039.4	cis	Muscle Skeletal	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172603000-172688400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:172642400-172688400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:172643600-172687800	Weak transcription	Hela-S3	cervix
4	chr2:172644400-172681800	Weak transcription	Brain Substantia Nigra	brain
5	chr2:172644400-172684400	Weak transcription	Spleen	Spleen
6	chr2:172644600-172681800	Weak transcription	Brain Angular Gyrus	brain
7	chr2:172645400-172687200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:172648200-172684400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:172648200-172687400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:172648200-172687400	Weak transcription	Colonic Mucosa	Colon
11	chr2:172648400-172681800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:172648400-172687600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:172648800-172687400	Weak transcription	Esophagus	oesophagus
14	chr2:172649000-172687400	Weak transcription	Gastric	stomach
15	chr2:172649200-172682000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:172650400-172680200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:172650400-172681800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:172650400-172687400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:172650400-172687600	Weak transcription	Lung	lung
20	chr2:172651800-172682000	Weak transcription	Fetal Thymus	thymus
21	chr2:172653000-172687400	Weak transcription	Fetal Heart	heart
22	chr2:172655200-172681800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:172655400-172687400	Weak transcription	A549	lung
24	chr2:172655600-172681800	Weak transcription	NHDF-Ad	bronchial
25	chr2:172655600-172687400	Weak transcription	NH-A	brain
26	chr2:172655800-172687400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:172656000-172679600	Weak transcription	Osteobl	bone
28	chr2:172656200-172683800	Weak transcription	Thymus	Thymus
29	chr2:172656400-172682000	Weak transcription	Brain Anterior Caudate	brain
30	chr2:172656400-172684200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:172656400-172684400	Weak transcription	Aorta	Aorta
32	chr2:172657600-172687400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:172662600-172682000	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:172663000-172682600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:172663600-172687400	Weak transcription	Fetal Brain Male	brain
36	chr2:172664200-172687400	Weak transcription	K562	blood
37	chr2:172664400-172679200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:172664400-172687400	Weak transcription	HUVEC	blood vessel
39	chr2:172664600-172684400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:172664600-172687400	Weak transcription	NHEK	skin
41	chr2:172664800-172680400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:172664800-172686400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:172664800-172687600	Weak transcription	HMEC	breast
44	chr2:172665200-172681800	Weak transcription	HepG2	liver
45	chr2:172665200-172689600	Weak transcription	Small Intestine	intestine
46	chr2:172666200-172678800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr2:172666200-172689600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:172666600-172678600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:172666600-172685000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:172666800-172681400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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