Variant report

Variant	rs73883354
Chromosome Location	chr22:30401608-30401609
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30187743..30188545-chr22:30401281..30401820,2	MCF-7	breast:
2	chr22:30396260..30398091-chr22:30400736..30402849,2	K562	blood:
3	chr22:30183192..30183757-chr22:30401302..30401851,2	MCF-7	breast:
4	chr22:30085509..30086792-chr22:30400990..30401964,4	MCF-7	breast:
5	chr22:30277721..30280339-chr22:30399364..30402748,3	K562	blood:

Variant related genes	Relation type
ENSG00000100330	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs11552852	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1544429	0.91[EUR][1000 genomes]
rs1544430	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1544431	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1544433	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16988120	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16988143	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16988148	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16988149	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16988244	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16988291	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16988303	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16988304	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16988333	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17648208	0.89[EUR][1000 genomes]
rs1807726	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2105871	0.87[EUR][1000 genomes]
rs2349228	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2412980	0.80[EUR][1000 genomes]
rs2412981	0.80[EUR][1000 genomes]
rs36579	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36588	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36589	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36592	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36593	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36597	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36599	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36602	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36603	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36608	0.86[EUR][1000 genomes]
rs39713	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41278853	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41281623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41281633	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4482600	0.80[EUR][1000 genomes]
rs45629133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4820823	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4823078	0.80[EUR][1000 genomes]
rs55645000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56392746	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56406718	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57348516	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5752974	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5752977	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5752979	0.91[EUR][1000 genomes]
rs5753039	0.80[EUR][1000 genomes]
rs5753042	0.80[EUR][1000 genomes]
rs5763560	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763568	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763582	0.82[EUR][1000 genomes]
rs5763595	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5763855	0.80[EUR][1000 genomes]
rs5763856	0.80[EUR][1000 genomes]
rs5763857	0.80[EUR][1000 genomes]
rs5763858	0.80[EUR][1000 genomes]
rs5763870	0.80[EUR][1000 genomes]
rs5763873	0.80[EUR][1000 genomes]
rs5763878	0.80[EUR][1000 genomes]
rs58162368	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5997539	0.89[EUR][1000 genomes]
rs6006276	0.89[EUR][1000 genomes]
rs6006383	0.84[EUR][1000 genomes]
rs60759987	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6518681	0.80[EUR][1000 genomes]
rs6519802	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6519805	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs713916	0.80[EUR][1000 genomes]
rs7284365	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7284951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7285585	0.80[EUR][1000 genomes]
rs7286205	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7286441	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7287233	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7290175	0.80[EUR][1000 genomes]
rs737901	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs737938	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73883344	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73883349	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73883355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883358	0.84[AMR][1000 genomes]
rs73883359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73883360	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883363	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883367	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883370	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883374	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883375	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883377	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883378	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8141471	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs962322	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 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	chr22:30350600-30402600	Weak transcription	Aorta	Aorta
2	chr22:30363400-30427800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr22:30367000-30426600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr22:30375200-30403200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr22:30377600-30402800	Weak transcription	Fetal Brain Male	brain
6	chr22:30384200-30403800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:30384400-30404000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr22:30385000-30404000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr22:30386200-30402600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:30389200-30402600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr22:30389200-30403000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr22:30389200-30404200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:30389200-30409200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr22:30389200-30411600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr22:30389200-30411800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr22:30390200-30403200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr22:30390200-30434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr22:30390800-30403000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr22:30391200-30402800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr22:30391200-30411400	Weak transcription	Small Intestine	intestine
21	chr22:30391400-30402600	Weak transcription	Ovary	ovary
22	chr22:30391400-30403000	Weak transcription	Pancreas	Pancrea
23	chr22:30391400-30403200	Weak transcription	Psoas Muscle	Psoas
24	chr22:30391400-30403600	Weak transcription	Hela-S3	cervix
25	chr22:30391400-30409800	Weak transcription	Fetal Heart	heart
26	chr22:30391400-30411600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr22:30391400-30433000	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr22:30391600-30404000	Weak transcription	Stomach Mucosa	stomach
29	chr22:30391600-30409800	Weak transcription	K562	blood
30	chr22:30391600-30417800	Weak transcription	Right Atrium	heart
31	chr22:30392200-30403000	Weak transcription	HMEC	breast
32	chr22:30392600-30425000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr22:30393800-30424800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr22:30394600-30424600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr22:30394800-30403800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr22:30394800-30404000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:30394800-30425200	Strong transcription	Fetal Intestine Large	intestine
38	chr22:30394800-30426200	Strong transcription	Placenta	Placenta
39	chr22:30395200-30402600	Weak transcription	Esophagus	oesophagus
40	chr22:30395600-30402600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr22:30395800-30402600	Weak transcription	Lung	lung
42	chr22:30395800-30402800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr22:30396800-30426200	Strong transcription	Primary B cells from cord blood	blood
44	chr22:30397000-30403000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr22:30397000-30403000	Weak transcription	NH-A	brain
46	chr22:30397600-30419800	Strong transcription	Dnd41	blood
47	chr22:30397800-30403000	Strong transcription	Primary T cells from cord blood	blood
48	chr22:30397800-30403400	Strong transcription	Fetal Thymus	thymus
49	chr22:30397800-30423800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr22:30397800-30425400	Strong transcription	Primary B cells from peripheral blood	blood

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