Variant report

Variant	rs1929092
Chromosome Location	chr1:186396508-186396509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10798051	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10911869	0.88[AFR][1000 genomes]
rs10911877	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10911878	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10911888	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10911890	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10911892	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10911895	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11580808	0.82[EUR][1000 genomes]
rs11582183	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11803944	0.82[ASN][1000 genomes]
rs11805124	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12071770	0.81[AFR][1000 genomes]
rs12087470	0.81[EUR][1000 genomes]
rs12089415	0.87[AFR][1000 genomes]
rs12093901	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12402521	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12406189	0.88[AFR][1000 genomes]
rs12406209	0.88[AFR][1000 genomes]
rs12409263	0.87[AFR][1000 genomes]
rs12410237	0.88[AFR][1000 genomes]
rs12728706	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12747113	0.82[ASN][1000 genomes]
rs12750371	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12752376	0.82[ASN][1000 genomes]
rs16825361	0.82[ASN][1000 genomes]
rs16825469	0.81[AFR][1000 genomes]
rs1799957	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2024761	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2180167	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2207727	0.87[EUR][1000 genomes]
rs2383385	0.87[AFR][1000 genomes]
rs2383508	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34396375	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34869216	0.87[AFR][1000 genomes]
rs35326401	0.80[ASN][1000 genomes]
rs35643079	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35999012	0.86[AFR][1000 genomes]
rs36105782	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3844242	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3851884	0.87[AFR][1000 genomes]
rs3901950	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3934200	0.88[AFR][1000 genomes]
rs4140433	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4567244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57390268	0.81[AFR][1000 genomes]
rs59547074	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6425035	0.82[AMR][1000 genomes]
rs6659683	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6666413	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6666813	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6672836	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6675505	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6677346	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6679923	0.87[AFR][1000 genomes]
rs6680252	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6689065	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6689727	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6692629	0.88[AFR][1000 genomes]
rs6694957	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71634161	0.82[ASN][1000 genomes]
rs72719487	0.87[AFR][1000 genomes]
rs72719501	0.81[AFR][1000 genomes]
rs7518525	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7523747	0.81[AFR][1000 genomes]
rs7525586	0.84[AFR][1000 genomes]
rs7526069	0.81[AFR][1000 genomes]
rs7536199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555973	0.88[AFR][1000 genomes]
rs7556360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1822818	chr1:186301447-186441585	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	esv1824284	chr1:186358588-186441585	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186345400-186398200	Weak transcription	Spleen	Spleen
2	chr1:186362400-186405600	Weak transcription	Brain Angular Gyrus	brain
3	chr1:186362800-186405600	Weak transcription	Right Ventricle	heart
4	chr1:186368600-186398200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:186372000-186398200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:186372000-186406000	Weak transcription	Pancreas	Pancrea
7	chr1:186376800-186399600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:186380000-186398800	Weak transcription	Brain Germinal Matrix	brain
9	chr1:186388600-186399400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:186388600-186404600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:186388600-186408000	Weak transcription	Fetal Brain Female	brain
12	chr1:186388600-186411600	Weak transcription	A549	lung
13	chr1:186388600-186417400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:186388800-186397400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:186388800-186405800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:186388800-186409400	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:186388800-186409400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:186389000-186413000	Weak transcription	Brain Substantia Nigra	brain
19	chr1:186389200-186406400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:186389600-186396800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:186389600-186397800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:186389600-186405200	Weak transcription	Brain Anterior Caudate	brain
23	chr1:186389600-186406800	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:186389600-186407600	Weak transcription	Aorta	Aorta
25	chr1:186389600-186407800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:186389600-186409200	Weak transcription	HUVEC	blood vessel
27	chr1:186389600-186411600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:186389600-186415600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:186389800-186409000	Weak transcription	Hela-S3	cervix
30	chr1:186389800-186411400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:186390000-186405800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr1:186390200-186397200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr1:186390200-186398600	Weak transcription	Fetal Lung	lung
34	chr1:186390400-186397400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr1:186390400-186405400	Weak transcription	Liver	Liver
36	chr1:186390800-186397200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:186390800-186411600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:186394000-186397200	Weak transcription	Left Ventricle	heart
39	chr1:186394000-186398000	Weak transcription	Right Atrium	heart
40	chr1:186394000-186414400	Weak transcription	HSMM	muscle
41	chr1:186394400-186398400	Strong transcription	Brain Hippocampus Middle	brain
42	chr1:186394600-186414600	Weak transcription	Primary T cells from cord blood	blood
43	chr1:186395200-186406800	Weak transcription	Fetal Brain Male	brain
44	chr1:186395600-186407800	Weak transcription	Psoas Muscle	Psoas
45	chr1:186395600-186413400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:186395800-186407200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:186396000-186405600	Weak transcription	Brain Inferior Temporal Lobe	brain

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