Variant report

Variant	rs822487
Chromosome Location	chr1:155821077-155821078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155818594..155821262-chr1:155827766..155829417,2	K562	blood:

Variant related genes	Relation type
ENSG00000132718	Chromatin interaction
ENSG00000116580	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11264417	0.85[AFR][1000 genomes]
rs1621690	0.85[AFR][1000 genomes]
rs1627630	0.99[AFR][1000 genomes]
rs168343	0.81[AFR][1000 genomes]
rs171168	0.80[AFR][1000 genomes]
rs1749412	0.97[AFR][1000 genomes]
rs1749413	0.89[AFR][1000 genomes]
rs1749414	0.97[AFR][1000 genomes]
rs1749420	0.91[AFR][1000 genomes]
rs1749422	0.91[AFR][1000 genomes]
rs1756242	0.91[AFR][1000 genomes]
rs1765280	0.98[AFR][1000 genomes]
rs1765283	0.85[AFR][1000 genomes]
rs1765286	0.86[AFR][1000 genomes]
rs1886618	0.98[AFR][1000 genomes]
rs2136920	0.81[AFR][1000 genomes]
rs2481623	0.91[AFR][1000 genomes]
rs2485470	0.89[AFR][1000 genomes]
rs2485472	0.97[AFR][1000 genomes]
rs2885676	0.98[AFR][1000 genomes]
rs348184	0.83[AFR][1000 genomes]
rs348199	0.81[AFR][1000 genomes]
rs348209	0.81[AFR][1000 genomes]
rs4581273	0.98[AFR][1000 genomes]
rs6427290	0.98[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	0.82[AFR][1000 genomes]
rs822013	0.96[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	0.94[AFR][1000 genomes]
rs822481	0.94[AFR][1000 genomes]
rs822483	0.96[AFR][1000 genomes]
rs822484	0.81[AFR][1000 genomes]
rs822485	0.91[AFR][1000 genomes]
rs822492	0.90[AFR][1000 genomes]
rs822496	0.98[AFR][1000 genomes]
rs822498	0.98[AFR][1000 genomes]
rs822521	0.87[AFR][1000 genomes]
rs822524	0.82[AFR][1000 genomes]
rs866603	1.00[AFR][1000 genomes]
rs9427222	0.81[AFR][1000 genomes]
rs9427227	0.83[AFR][1000 genomes]
rs9427229	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 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	chr1:155783600-155823000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:155787600-155822000	Weak transcription	Esophagus	oesophagus
3	chr1:155789600-155822000	Weak transcription	Fetal Brain Male	brain
4	chr1:155792200-155822000	Weak transcription	Pancreas	Pancrea
5	chr1:155792200-155826000	Weak transcription	Stomach Mucosa	stomach
6	chr1:155792400-155826600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:155792600-155822800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:155796800-155821200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:155796800-155822800	Weak transcription	Small Intestine	intestine
10	chr1:155798000-155822000	Weak transcription	Aorta	Aorta
11	chr1:155803800-155826000	Weak transcription	Right Atrium	heart
12	chr1:155804600-155821600	Weak transcription	NHDF-Ad	bronchial
13	chr1:155808000-155826000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:155810000-155825200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:155810400-155825400	Strong transcription	Fetal Stomach	stomach
16	chr1:155810600-155825400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr1:155811400-155825000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:155812400-155825400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:155812800-155825400	Strong transcription	Fetal Thymus	thymus
20	chr1:155813000-155825400	Strong transcription	Thymus	Thymus
21	chr1:155813200-155826200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:155813400-155821200	Weak transcription	Ovary	ovary
23	chr1:155813600-155826200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:155813800-155826000	Weak transcription	Right Ventricle	heart
25	chr1:155814400-155821600	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:155814800-155822000	Weak transcription	Colonic Mucosa	Colon
27	chr1:155815200-155825400	Strong transcription	Fetal Intestine Small	intestine
28	chr1:155815200-155825800	Weak transcription	Fetal Heart	heart
29	chr1:155815400-155822000	Weak transcription	Gastric	stomach
30	chr1:155815600-155821400	Weak transcription	Brain Substantia Nigra	brain
31	chr1:155815600-155822800	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:155815800-155821600	Weak transcription	Fetal Kidney	kidney
33	chr1:155815800-155821600	Weak transcription	HMEC	breast
34	chr1:155815800-155822000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:155815800-155822000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:155815800-155822000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:155815800-155822000	Weak transcription	NHLF	lung
38	chr1:155815800-155823000	Weak transcription	HSMMtube	muscle
39	chr1:155815800-155826000	Weak transcription	Psoas Muscle	Psoas
40	chr1:155816000-155821400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:155816000-155821800	Weak transcription	A549	lung
42	chr1:155816200-155821600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:155817000-155821600	Weak transcription	HSMM	muscle
44	chr1:155817200-155821400	Weak transcription	Fetal Lung	lung
45	chr1:155817200-155821600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:155817200-155822800	Weak transcription	NH-A	brain
47	chr1:155817200-155825400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:155817200-155825600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:155817400-155823200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
50	chr1:155817600-155821200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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