Variant report

Variant	rs67204065
Chromosome Location	chr2:172672624-172672625
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	chr2:172665538..172668846-chr2:172671446..172673879,3	K562	blood:
2	chr2:172665538..172668649-chr2:172671446..172673581,3	K562	blood:

Variant related genes	Relation type
ENSG00000115840	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10166005	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10167419	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174525	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184866	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10194102	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10200608	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10201419	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10204502	0.84[AMR][1000 genomes]
rs10204622	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10206062	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10207085	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10497374	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10803863	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1113389	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678984	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11757	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886820	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11897196	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11904009	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12053003	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12185567	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12692970	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12692973	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12692974	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12692978	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13017585	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13018768	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13022113	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13419987	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13429113	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13429409	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1474074	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554166	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1973706	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292815	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2357061	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2674484	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2678155	0.82[AMR][1000 genomes]
rs312916	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs312918	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs312919	0.84[AMR][1000 genomes]
rs312921	0.81[AMR][1000 genomes]
rs312924	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs312925	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34358700	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34542126	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35379278	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35391289	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35549875	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35854280	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36057702	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3770445	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770451	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770452	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3795999	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4667693	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4667694	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4668412	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4668414	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6433311	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6433314	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66835971	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705200	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709156	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6710698	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6721680	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6722757	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6724337	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6725388	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6738445	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6745143	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754817	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757773	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6758704	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759575	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71013062	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7355523	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7355594	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562356	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7572215	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7573003	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7586207	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597387	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7604918	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7608403	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs908670	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs908671	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs973889	0.93[AMR][1000 genomes];0.86[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:10)

SNP	Gene	Cis/trans	Tissue	Source
rs67204065	AC068039.4	cis	Esophagus Muscularis	GTEx
rs67204065	AC068039.4	cis	Muscle Skeletal	GTEx
rs67204065	AC068039.4	cis	Heart Left Ventricle	GTEx
rs67204065	AC068039.4	cis	Skin Sun Exposed Lower leg	GTEx
rs67204065	AC068039.4	cis	Whole Blood	GTEx
rs67204065	AC068039.4	cis	lung	GTEx
rs67204065	AC068039.4	cis	Esophagus Mucosa	GTEx
rs67204065	AC068039.4	cis	Thyroid	GTEx
rs67204065	AC068039.4	cis	Nerve Tibial	GTEx
rs67204065	AC068039.4	cis	Stomach	GTEx

Chromatin state (count:99 , 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	chr2:172643800-172674600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:172644400-172681800	Weak transcription	Brain Substantia Nigra	brain
6	chr2:172644400-172684400	Weak transcription	Spleen	Spleen
7	chr2:172644600-172681800	Weak transcription	Brain Angular Gyrus	brain
8	chr2:172645400-172687200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:172648200-172684400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:172648200-172687400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:172648200-172687400	Weak transcription	Colonic Mucosa	Colon
12	chr2:172648400-172681800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:172648400-172687600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:172648800-172687400	Weak transcription	Esophagus	oesophagus
15	chr2:172649000-172687400	Weak transcription	Gastric	stomach
16	chr2:172649200-172682000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:172650400-172680200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:172650400-172681800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:172650400-172687400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:172650400-172687600	Weak transcription	Lung	lung
21	chr2:172651800-172682000	Weak transcription	Fetal Thymus	thymus
22	chr2:172653000-172687400	Weak transcription	Fetal Heart	heart
23	chr2:172655200-172681800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:172655400-172687400	Weak transcription	A549	lung
25	chr2:172655600-172674600	Weak transcription	HSMM	muscle
26	chr2:172655600-172681800	Weak transcription	NHDF-Ad	bronchial
27	chr2:172655600-172687400	Weak transcription	NH-A	brain
28	chr2:172655800-172687400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:172656000-172679600	Weak transcription	Osteobl	bone
30	chr2:172656200-172683800	Weak transcription	Thymus	Thymus
31	chr2:172656400-172682000	Weak transcription	Brain Anterior Caudate	brain
32	chr2:172656400-172684200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:172656400-172684400	Weak transcription	Aorta	Aorta
34	chr2:172657600-172687400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:172662600-172682000	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:172663000-172682600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:172663600-172687400	Weak transcription	Fetal Brain Male	brain
38	chr2:172664000-172674800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:172664200-172687400	Weak transcription	K562	blood
40	chr2:172664400-172679200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:172664400-172687400	Weak transcription	HUVEC	blood vessel
42	chr2:172664600-172674800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:172664600-172684400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:172664600-172687400	Weak transcription	NHEK	skin
45	chr2:172664800-172680400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:172664800-172686400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:172664800-172687600	Weak transcription	HMEC	breast
48	chr2:172665200-172681800	Weak transcription	HepG2	liver
49	chr2:172665200-172689600	Weak transcription	Small Intestine	intestine
50	chr2:172666200-172678800	Weak transcription	Primary monocytes fromperipheralblood	blood

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