Variant report

Variant	rs9636293
Chromosome Location	chr2:172675009-172675010
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172673517..172675266-chr2:172684577..172687349,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10179020	0.84[AFR][1000 genomes]
rs10184770	0.80[AFR][1000 genomes]
rs10185633	0.80[AFR][1000 genomes]
rs10188587	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10191399	0.84[AFR][1000 genomes]
rs10196521	0.85[AFR][1000 genomes]
rs10201520	0.83[AFR][1000 genomes]
rs1022358	0.97[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10439296	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10930493	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10930496	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10930498	0.81[AMR][1000 genomes]
rs10930500	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1105264	0.85[AFR][1000 genomes]
rs11692418	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11887208	0.84[AFR][1000 genomes]
rs11903123	0.92[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12478215	0.82[AMR][1000 genomes]
rs12617265	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12619137	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12692971	0.89[AFR][1000 genomes]
rs12692977	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12692979	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13012103	0.86[AFR][1000 genomes]
rs13017988	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13021571	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400816	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1443700	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1515812	0.80[AFR][1000 genomes]
rs1517678	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1543168	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1607253	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1850031	0.80[AFR][1000 genomes]
rs1878583	0.82[AFR][1000 genomes]
rs1996425	0.85[AFR][1000 genomes]
rs2056202	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2138873	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2176466	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292813	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2292814	0.83[AFR][1000 genomes]
rs2357064	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2357206	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2884123	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs312917	0.82[AFR][1000 genomes]
rs3770444	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs3770453	0.80[EUR][1000 genomes]
rs3770457	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs3821094	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs3821096	0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4324292	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4507064	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4668413	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4668415	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4668416	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4668417	0.84[AFR][1000 genomes]
rs4668419	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59414074	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6433313	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6433315	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6433317	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6708365	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6709299	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6711813	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6726991	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6727459	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6736159	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6740705	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6757680	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6758494	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6760680	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7340516	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7371503	0.87[EUR][1000 genomes]
rs7580132	0.83[AMR][1000 genomes]
rs7580232	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7588025	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7594478	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs925881	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9287948	0.83[AFR][1000 genomes]
rs949548	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs970948	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv3429424	chr2:172674856-172677154	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9636293	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	chr2:172644400-172681800	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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