Variant report

Variant	rs73786278
Chromosome Location	chr5:126330914-126330915
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	chr5:126330150..126334405-chr5:126338053..126340230,4	K562	blood:
2	chr5:126328847..126331239-chr5:126388001..126390395,2	K562	blood:

Extended variants
information (count: 215 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:213)

rs_ID	r²[population]
rs10040840	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10075097	0.86[ASN][1000 genomes]
rs10519919	1.00[EUR][1000 genomes]
rs10519920	0.86[ASN][1000 genomes]
rs10519922	1.00[EUR][1000 genomes]
rs10519923	1.00[EUR][1000 genomes]
rs12518420	1.00[EUR][1000 genomes]
rs12651864	1.00[EUR][1000 genomes]
rs12652390	1.00[EUR][1000 genomes]
rs12652417	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12653000	1.00[EUR][1000 genomes]
rs12653290	1.00[EUR][1000 genomes]
rs12653444	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12653823	0.86[ASN][1000 genomes]
rs12654717	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12654725	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12654808	0.82[EUR][1000 genomes]
rs12655006	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12655199	1.00[EUR][1000 genomes]
rs12655223	0.82[EUR][1000 genomes]
rs12655258	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12655319	1.00[EUR][1000 genomes]
rs12655435	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12655605	1.00[EUR][1000 genomes]
rs12655699	0.86[ASN][1000 genomes]
rs12655726	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12655928	1.00[EUR][1000 genomes]
rs12655991	0.82[EUR][1000 genomes]
rs12656223	0.89[ASN][1000 genomes]
rs12656236	1.00[EUR][1000 genomes]
rs12656537	1.00[EUR][1000 genomes]
rs12656837	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12658138	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12658174	0.82[EUR][1000 genomes]
rs12658599	1.00[EUR][1000 genomes]
rs12658608	0.84[EUR][1000 genomes]
rs12658816	1.00[EUR][1000 genomes]
rs12658821	1.00[EUR][1000 genomes]
rs12658822	0.82[EUR][1000 genomes]
rs12659476	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12659607	1.00[EUR][1000 genomes]
rs12659614	1.00[EUR][1000 genomes]
rs12659633	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17165192	1.00[EUR][1000 genomes]
rs17165194	1.00[EUR][1000 genomes]
rs17165211	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17165228	1.00[EUR][1000 genomes]
rs17165234	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17165236	0.86[ASN][1000 genomes]
rs17165239	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17165244	0.86[ASN][1000 genomes]
rs17165248	0.86[ASN][1000 genomes]
rs17165249	1.00[EUR][1000 genomes]
rs17165251	0.86[ASN][1000 genomes]
rs17839703	0.92[EUR][1000 genomes]
rs34416835	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34738240	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35566904	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35627668	1.00[EUR][1000 genomes]
rs36091921	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3812061	0.82[EUR][1000 genomes]
rs4141169	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4141170	0.86[ASN][1000 genomes]
rs55780389	0.87[AFR][1000 genomes]
rs55792418	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55802546	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56073877	0.86[ASN][1000 genomes]
rs56094173	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56122855	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56124224	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56171951	0.92[EUR][1000 genomes]
rs56272610	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56279346	0.84[ASN][1000 genomes]
rs56688052	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56689722	1.00[EUR][1000 genomes]
rs56786115	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57031083	0.82[EUR][1000 genomes]
rs57032367	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57052202	1.00[EUR][1000 genomes]
rs57081850	1.00[EUR][1000 genomes]
rs57113926	0.82[EUR][1000 genomes]
rs57285842	0.86[ASN][1000 genomes]
rs57485054	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57627287	1.00[EUR][1000 genomes]
rs57700815	1.00[EUR][1000 genomes]
rs57833976	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57906418	0.92[EUR][1000 genomes]
rs57915728	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58030771	0.86[ASN][1000 genomes]
rs58164143	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58249730	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58262537	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58527455	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58646561	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58754116	0.86[ASN][1000 genomes]
rs58838495	0.82[EUR][1000 genomes]
rs58894799	1.00[EUR][1000 genomes]
rs59459356	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59489123	1.00[EUR][1000 genomes]
rs59643871	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59676931	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59770843	0.86[ASN][1000 genomes]
rs59814275	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60045571	0.82[EUR][1000 genomes]
rs60138815	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60244211	0.82[EUR][1000 genomes]
rs60615137	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60636815	1.00[EUR][1000 genomes]
rs60781824	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60889784	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60892581	0.84[ASN][1000 genomes]
rs61031864	1.00[EUR][1000 genomes]
rs61258380	1.00[EUR][1000 genomes]
rs61279308	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61463824	0.82[EUR][1000 genomes]
rs61496590	0.82[EUR][1000 genomes]
rs61544197	0.86[ASN][1000 genomes]
rs61653213	1.00[EUR][1000 genomes]
rs61679093	0.86[ASN][1000 genomes]
rs61685918	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61697996	0.86[ASN][1000 genomes]
rs6595747	0.89[ASN][1000 genomes]
rs6860581	0.89[ASN][1000 genomes]
rs6862462	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6864607	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6872893	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6877692	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6882025	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6883181	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6886131	0.89[ASN][1000 genomes]
rs6888532	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6892168	0.89[ASN][1000 genomes]
rs6893763	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6899030	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72505648	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73335426	0.82[EUR][1000 genomes]
rs73335444	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73335447	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73335461	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73335474	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73335490	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73335494	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73335498	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73335501	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73337225	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73337229	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73337233	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73337299	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73339248	0.89[ASN][1000 genomes]
rs73339251	0.86[ASN][1000 genomes]
rs73339283	0.86[ASN][1000 genomes]
rs73339293	0.86[ASN][1000 genomes]
rs73783476	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73783496	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73783501	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73783503	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783504	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783506	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783507	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783529	0.86[ASN][1000 genomes]
rs73786207	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786209	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786212	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786239	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786240	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786241	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786242	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786244	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786246	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786247	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786249	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786250	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786251	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786252	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786253	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786255	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786259	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786260	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786261	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786262	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786264	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786265	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786266	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786267	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786268	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786269	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786270	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786271	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786272	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73786276	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786277	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786280	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786281	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786282	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786283	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786284	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786285	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786287	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786288	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786290	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786294	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786295	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786297	0.87[AFR][1000 genomes]
rs73786298	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786300	0.87[AFR][1000 genomes]
rs73787403	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73787404	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73787406	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7701976	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7709865	1.00[ASN][1000 genomes]
rs7715377	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7727719	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9918233	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][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	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126309000-126331000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:126309000-126331600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:126309400-126334000	Weak transcription	Small Intestine	intestine
4	chr5:126312800-126331600	Weak transcription	HSMM	muscle
5	chr5:126320800-126356000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:126323400-126334800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:126323600-126334000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr5:126324000-126333800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:126325600-126333800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:126325600-126333800	Weak transcription	HUVEC	blood vessel
11	chr5:126325600-126342000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:126326200-126331600	Enhancers	Primary B cells from peripheral blood	blood
13	chr5:126327800-126335600	Enhancers	Fetal Heart	heart
14	chr5:126328200-126333800	Weak transcription	Primary B cells from cord blood	blood
15	chr5:126328800-126335400	Enhancers	Psoas Muscle	Psoas
16	chr5:126329000-126334000	Weak transcription	Gastric	stomach
17	chr5:126329200-126333800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:126329600-126331600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:126330400-126331400	Enhancers	Left Ventricle	heart
20	chr5:126330400-126332000	Enhancers	Right Atrium	heart
21	chr5:126330400-126332400	Enhancers	Stomach Mucosa	stomach
22	chr5:126330400-126333400	Enhancers	K562	blood
23	chr5:126330800-126332400	Enhancers	Right Ventricle	heart

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