Variant report

Variant	rs12106160
Chromosome Location	chr20:1348002-1348003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:1342733..1346538-chr20:1346730..1348798,3	K562	blood:
2	chr20:1346000..1350154-chr20:1350167..1354202,4	K562	blood:
3	chr20:1343841..1348695-chr20:1349294..1353469,5	K562	blood:
4	chr20:1345564..1348128-chr20:1371036..1372870,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000088832	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11905059	1.00[AMR][1000 genomes]
rs11906723	1.00[AMR][1000 genomes]
rs11907712	1.00[AMR][1000 genomes]
rs11907751	1.00[AMR][1000 genomes]
rs11907783	1.00[AMR][1000 genomes]
rs11907998	1.00[AMR][1000 genomes]
rs11908182	1.00[AMR][1000 genomes]
rs56754323	1.00[AMR][1000 genomes]
rs57346343	1.00[AMR][1000 genomes]
rs57420503	1.00[AMR][1000 genomes]
rs58097778	1.00[AMR][1000 genomes]
rs58116184	1.00[AMR][1000 genomes]
rs58308789	1.00[AMR][1000 genomes]
rs58367945	1.00[AMR][1000 genomes]
rs58517500	1.00[AMR][1000 genomes]
rs59506879	1.00[AMR][1000 genomes]
rs60811618	1.00[AMR][1000 genomes]
rs61002307	1.00[AMR][1000 genomes]
rs61215418	1.00[AMR][1000 genomes]
rs61511268	1.00[AMR][1000 genomes]
rs73569103	1.00[AMR][1000 genomes]
rs73569105	1.00[AMR][1000 genomes]
rs73569106	1.00[AMR][1000 genomes]
rs73569112	1.00[AMR][1000 genomes]
rs73569121	1.00[AMR][1000 genomes]
rs73569122	1.00[AMR][1000 genomes]
rs73569123	1.00[AMR][1000 genomes]
rs73569127	1.00[AMR][1000 genomes]
rs73569150	1.00[AMR][1000 genomes]
rs73569154	1.00[AMR][1000 genomes]
rs73569167	1.00[AMR][1000 genomes]
rs73569168	1.00[AMR][1000 genomes]
rs73569169	1.00[AMR][1000 genomes]
rs73569172	1.00[AMR][1000 genomes]
rs73569173	1.00[AMR][1000 genomes]
rs73569175	1.00[AMR][1000 genomes]
rs73569178	1.00[AMR][1000 genomes]
rs73569180	1.00[AMR][1000 genomes]
rs73569183	1.00[AMR][1000 genomes]
rs73569192	1.00[AMR][1000 genomes]
rs73569194	1.00[AMR][1000 genomes]
rs73569196	1.00[AMR][1000 genomes]
rs73569198	1.00[AMR][1000 genomes]
rs73577468	1.00[AMR][1000 genomes]
rs73577470	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522008	chr20:1340390-1638578	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1310000-1348800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr20:1323000-1350600	Weak transcription	Fetal Brain Male	brain
3	chr20:1323400-1354000	Weak transcription	Fetal Heart	heart
4	chr20:1326000-1350600	Weak transcription	Right Atrium	heart
5	chr20:1326800-1348200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr20:1327600-1372200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr20:1331600-1349000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:1331600-1358200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr20:1332400-1348400	Weak transcription	Psoas Muscle	Psoas
10	chr20:1332400-1349200	Weak transcription	Colonic Mucosa	Colon
11	chr20:1333200-1349000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr20:1336200-1350600	Weak transcription	Right Ventricle	heart
13	chr20:1336200-1361800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr20:1336400-1350600	Weak transcription	Fetal Lung	lung
15	chr20:1336400-1355600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr20:1336400-1370400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr20:1337600-1349400	Strong transcription	Fetal Muscle Leg	muscle
18	chr20:1338600-1354800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr20:1339000-1348800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr20:1339200-1348200	Weak transcription	Brain Angular Gyrus	brain
21	chr20:1339200-1348200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr20:1339200-1350600	Weak transcription	Pancreas	Pancrea
23	chr20:1340000-1349600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr20:1340200-1349000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr20:1340200-1349000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr20:1341200-1350400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr20:1341200-1351000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr20:1341200-1351600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr20:1341400-1370600	Weak transcription	Hela-S3	cervix
30	chr20:1341600-1350600	Weak transcription	Brain Substantia Nigra	brain
31	chr20:1341600-1350800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr20:1341800-1350800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr20:1342400-1349000	Weak transcription	Colon Smooth Muscle	Colon
34	chr20:1342600-1348200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr20:1342600-1348200	Weak transcription	NH-A	brain
36	chr20:1343200-1348200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr20:1343400-1348200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr20:1343400-1348200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr20:1344400-1348200	Weak transcription	Brain Anterior Caudate	brain
40	chr20:1344600-1348200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr20:1344600-1349200	Strong transcription	HUVEC	blood vessel
42	chr20:1344800-1348600	Weak transcription	HSMMtube	muscle
43	chr20:1344800-1349000	Weak transcription	HSMM	muscle
44	chr20:1345000-1348200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr20:1345000-1353000	Weak transcription	K562	blood
46	chr20:1345200-1348200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr20:1345400-1348600	Strong transcription	NHDF-Ad	bronchial
48	chr20:1345600-1348200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr20:1345600-1349000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr20:1345600-1358000	Weak transcription	Stomach Mucosa	stomach

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