Variant report

Variant	rs73883360
Chromosome Location	chr22:30427564-30427565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:99426397..99429195-chr22:30427299..30429997,2	MCF-7	breast:
2	chr22:30426124..30429580-chr22:30433201..30436027,3	K562	blood:
3	chr22:30421588..30423711-chr22:30425219..30427810,2	K562	blood:
4	chr22:30421468..30423711-chr22:30425219..30428106,3	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs11552852	0.93[EUR][1000 genomes]
rs1544429	0.89[EUR][1000 genomes]
rs1544430	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1544431	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1544433	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988120	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988143	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988148	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16988149	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988291	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988303	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988304	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988333	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17647863	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17648208	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1807726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2105871	0.80[EUR][1000 genomes]
rs2349228	0.85[AFR][1000 genomes]
rs2412980	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2412981	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36579	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36588	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36589	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36592	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36593	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36597	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36599	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36602	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36603	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36608	0.84[EUR][1000 genomes]
rs39713	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs41278853	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41281623	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41281633	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4482600	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4482601	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs45629133	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4820823	0.85[AFR][1000 genomes]
rs4823078	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55645000	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56392746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56406718	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57348516	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5752974	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs5752977	0.82[EUR][1000 genomes]
rs5752979	0.89[EUR][1000 genomes]
rs5753038	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5753039	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5753042	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5753043	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5763560	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs5763568	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs5763582	0.80[EUR][1000 genomes]
rs5763595	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5763855	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763856	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763857	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763858	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763870	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763873	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763878	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58162368	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5997539	0.82[EUR][1000 genomes]
rs6006276	0.82[EUR][1000 genomes]
rs6006383	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60759987	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6518681	0.91[EUR][1000 genomes]
rs6519802	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6519805	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs713916	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7284365	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7284951	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7285585	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7286205	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7286441	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7287233	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7290175	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs737901	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs737938	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883344	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883349	0.95[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73883354	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883355	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883358	0.82[AFR][1000 genomes]
rs73883359	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73883363	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883367	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883370	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883374	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883375	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73883377	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73883378	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8141471	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs962322	0.82[AMR][1000 genomes];0.91[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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30363400-30427800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr22:30390200-30434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:30391400-30433000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr22:30409000-30432800	Strong transcription	Fetal Stomach	stomach
5	chr22:30412000-30431200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr22:30419600-30434400	Weak transcription	Small Intestine	intestine
7	chr22:30422200-30429000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr22:30422400-30427800	Weak transcription	Psoas Muscle	Psoas
9	chr22:30422400-30434200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr22:30422400-30434200	Weak transcription	HUVEC	blood vessel
11	chr22:30422800-30429600	Weak transcription	NHDF-Ad	bronchial
12	chr22:30422800-30429800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr22:30423000-30429600	Weak transcription	Fetal Heart	heart
14	chr22:30423000-30432600	Weak transcription	NH-A	brain
15	chr22:30423400-30429400	Weak transcription	Colon Smooth Muscle	Colon
16	chr22:30423400-30429600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:30423400-30429600	Weak transcription	GM12878-XiMat	blood
18	chr22:30423400-30430800	Strong transcription	Fetal Intestine Small	intestine
19	chr22:30423400-30432400	Weak transcription	Stomach Mucosa	stomach
20	chr22:30423400-30434400	Weak transcription	A549	lung
21	chr22:30423600-30447600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr22:30424200-30429600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:30424200-30429800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr22:30424200-30434000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr22:30424400-30429400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr22:30424400-30429800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:30424400-30431400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr22:30424600-30427600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr22:30424600-30429600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr22:30424600-30429800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr22:30424600-30432600	Weak transcription	HMEC	breast
32	chr22:30424600-30435600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr22:30424800-30427800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr22:30424800-30429600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr22:30424800-30432400	Weak transcription	Colonic Mucosa	Colon
36	chr22:30424800-30443000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr22:30425000-30429600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr22:30425000-30430600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr22:30425000-30434200	Weak transcription	Gastric	stomach
40	chr22:30425200-30429000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr22:30425200-30429000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr22:30425200-30429200	Weak transcription	Right Atrium	heart
43	chr22:30425200-30429200	Weak transcription	Right Ventricle	heart
44	chr22:30425200-30429400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr22:30425200-30429400	Weak transcription	Adipose Nuclei	Adipose
46	chr22:30425200-30429600	Weak transcription	Spleen	Spleen
47	chr22:30425200-30429800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr22:30425200-30430400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr22:30425200-30431600	Weak transcription	Esophagus	oesophagus
50	chr22:30425200-30432400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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