Variant report

Variant	rs67765474
Chromosome Location	chr2:64168437-64168438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10183479	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10199273	0.83[AFR][1000 genomes]
rs11558741	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11674020	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676710	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11682249	0.83[AFR][1000 genomes]
rs11683408	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11686956	0.80[ASN][1000 genomes]
rs11691987	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11693906	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11694253	0.82[ASN][1000 genomes]
rs11695421	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12713498	0.98[ASN][1000 genomes]
rs12996866	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13018690	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13431781	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1440002	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17562177	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17562423	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17619753	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs193031	0.82[ASN][1000 genomes]
rs2302808	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2439183	0.90[ASN][1000 genomes]
rs2969395	0.90[ASN][1000 genomes]
rs329478	0.90[ASN][1000 genomes]
rs329488	0.82[ASN][1000 genomes]
rs34122334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34765999	0.90[ASN][1000 genomes]
rs34777730	0.90[ASN][1000 genomes]
rs35002211	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35336851	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35474183	0.87[ASN][1000 genomes]
rs35480874	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35697586	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs35960986	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36033991	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36123537	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4233930	0.93[ASN][1000 genomes]
rs4538187	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4671071	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56904032	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6546029	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546030	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546032	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6546033	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6546035	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66980330	0.98[ASN][1000 genomes]
rs6715992	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67308158	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6731508	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6732746	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6755646	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67615384	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68117986	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72808243	0.98[ASN][1000 genomes]
rs72893103	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs74181291	0.80[ASN][1000 genomes]
rs7590399	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv521717	chr2:64104132-64186582	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv874236	chr2:64154215-64179235	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1002209	chr2:64160385-64238475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64114000-64212000	Weak transcription	Small Intestine	intestine
2	chr2:64114200-64174800	Weak transcription	Right Ventricle	heart
3	chr2:64129600-64201000	Weak transcription	Hela-S3	cervix
4	chr2:64130400-64211200	Weak transcription	Fetal Brain Male	brain
5	chr2:64130800-64174800	Weak transcription	Stomach Mucosa	stomach
6	chr2:64137400-64204800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:64138600-64168600	Weak transcription	Brain Angular Gyrus	brain
8	chr2:64139000-64172800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:64139800-64220600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:64140400-64187600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:64140400-64188800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:64140600-64172400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:64141200-64187600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:64141400-64189200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:64142800-64189200	Weak transcription	Brain Substantia Nigra	brain
16	chr2:64147600-64178000	Weak transcription	A549	lung
17	chr2:64154400-64176800	Weak transcription	Colonic Mucosa	Colon
18	chr2:64154400-64202600	Weak transcription	Spleen	Spleen
19	chr2:64154600-64174800	Weak transcription	Thymus	Thymus
20	chr2:64154600-64202600	Weak transcription	Pancreas	Pancrea
21	chr2:64154800-64175000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:64154800-64175200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:64154800-64177400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
25	chr2:64155000-64174800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:64155400-64174200	Weak transcription	Brain Germinal Matrix	brain
27	chr2:64159200-64170000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:64159200-64172400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:64159200-64181400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr2:64159400-64175600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:64159600-64197800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:64159600-64211600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:64159800-64172000	Strong transcription	HepG2	liver
34	chr2:64159800-64172200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr2:64160000-64169800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:64160400-64169000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:64162200-64173200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:64162800-64170400	Weak transcription	Fetal Kidney	kidney
39	chr2:64162800-64183600	Weak transcription	HSMMtube	muscle
40	chr2:64163200-64207600	Weak transcription	HUVEC	blood vessel
41	chr2:64163800-64172400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:64164400-64169200	Strong transcription	Osteobl	bone
43	chr2:64164600-64169200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr2:64164600-64169200	Strong transcription	Fetal Muscle Leg	muscle
45	chr2:64164600-64169400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:64164800-64171800	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:64165000-64169000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:64165200-64168600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:64165200-64168800	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:64165600-64175000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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