Variant report

Variant	rs2481623
Chromosome Location	chr1:155780965-155780966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11264417	0.81[AFR][1000 genomes]
rs1621690	0.85[AFR][1000 genomes]
rs1627630	0.90[AFR][1000 genomes]
rs1749412	0.88[AFR][1000 genomes]
rs1749414	0.88[AFR][1000 genomes]
rs1749420	0.91[AFR][1000 genomes]
rs1749422	0.91[AFR][1000 genomes]
rs1756242	0.91[AFR][1000 genomes]
rs1765280	0.89[AFR][1000 genomes]
rs1765283	0.85[AFR][1000 genomes]
rs1765286	0.85[AFR][1000 genomes]
rs1886618	0.93[AFR][1000 genomes]
rs2485470	0.91[AFR][1000 genomes]
rs2485472	0.88[AFR][1000 genomes]
rs2885676	0.93[AFR][1000 genomes]
rs4581273	0.93[AFR][1000 genomes]
rs6427290	0.93[AFR][1000 genomes]
rs6688399	0.83[AFR][1000 genomes]
rs708607	0.91[AFR][1000 genomes]
rs708609	0.88[AFR][1000 genomes]
rs708613	0.91[AFR][1000 genomes]
rs822011	0.87[AFR][1000 genomes]
rs822013	0.95[AFR][1000 genomes]
rs822014	0.89[AFR][1000 genomes]
rs822017	0.91[AFR][1000 genomes]
rs822021	0.91[AFR][1000 genomes]
rs822023	0.91[AFR][1000 genomes]
rs822024	0.89[AFR][1000 genomes]
rs822027	0.85[AFR][1000 genomes]
rs822479	0.93[AFR][1000 genomes]
rs822481	0.93[AFR][1000 genomes]
rs822483	0.95[AFR][1000 genomes]
rs822484	0.80[AFR][1000 genomes]
rs822485	0.91[AFR][1000 genomes]
rs822487	0.91[AFR][1000 genomes]
rs822492	0.81[AFR][1000 genomes]
rs822496	0.93[AFR][1000 genomes]
rs822498	0.93[AFR][1000 genomes]
rs866603	0.91[AFR][1000 genomes]
rs9427227	0.83[AFR][1000 genomes]
rs9427229	0.83[AFR][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	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv872469	chr1:155743310-155810293	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1003170	chr1:155762204-155836564	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv3397126	chr1:155778353-155781201	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155715400-155789200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:155716000-155793400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:155716600-155781800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:155717400-155795800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:155720200-155798200	Strong transcription	Fetal Thymus	thymus
6	chr1:155720200-155803600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:155720400-155796800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:155732200-155789200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:155746400-155791400	Weak transcription	Stomach Mucosa	stomach
10	chr1:155747600-155787200	Weak transcription	Esophagus	oesophagus
11	chr1:155747800-155785600	Weak transcription	Fetal Brain Male	brain
12	chr1:155747800-155791200	Weak transcription	Fetal Heart	heart
13	chr1:155748000-155789400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:155762200-155798000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:155762600-155785000	Strong transcription	Fetal Intestine Small	intestine
16	chr1:155765200-155803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:155765200-155813200	Weak transcription	Psoas Muscle	Psoas
18	chr1:155766200-155782800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:155769800-155783400	Weak transcription	NHLF	lung
20	chr1:155771200-155783000	Weak transcription	A549	lung
21	chr1:155771400-155798400	Strong transcription	Fetal Muscle Leg	muscle
22	chr1:155771600-155798200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:155772000-155798000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:155772400-155785800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:155773800-155781200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:155773800-155787200	Weak transcription	Brain Substantia Nigra	brain
27	chr1:155774400-155787000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:155775000-155782000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:155775000-155782000	Weak transcription	HMEC	breast
30	chr1:155775000-155782600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:155775000-155782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr1:155775000-155782800	Weak transcription	Brain Angular Gyrus	brain
33	chr1:155775000-155782800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr1:155775000-155783000	Weak transcription	Colonic Mucosa	Colon
35	chr1:155775000-155795600	Weak transcription	Small Intestine	intestine
36	chr1:155775200-155782600	Weak transcription	HUVEC	blood vessel
37	chr1:155775400-155783000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr1:155776000-155782400	Weak transcription	Ovary	ovary
39	chr1:155776000-155796600	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr1:155776800-155782600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:155776800-155782800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:155777000-155782200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:155777000-155782600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:155777000-155782800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:155777000-155787200	Weak transcription	Pancreas	Pancrea
46	chr1:155777000-155787400	Weak transcription	Gastric	stomach
47	chr1:155777000-155787400	Weak transcription	Spleen	Spleen
48	chr1:155777200-155782400	Weak transcription	Lung	lung
49	chr1:155777200-155782800	Weak transcription	Brain Germinal Matrix	brain
50	chr1:155777200-155783200	Weak transcription	Right Ventricle	heart

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