Variant report

Variant	rs12658608
Chromosome Location	chr5:126373352-126373353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126364056..126368822-chr5:126369920..126375542,6	MCF-7	breast:
2	chr5:126373053..126375255-chr5:126375735..126378534,4	MCF-7	breast:
3	chr5:126371344..126373456-chr5:126373808..126375969,2	K562	blood:
4	chr5:126362494..126364434-chr5:126372915..126374749,2	K562	blood:
5	chr5:126349066..126351485-chr5:126372566..126375417,2	K562	blood:

Variant related genes	Relation type
ENSG00000173926	Chromatin interaction

Extended variants
information (count: 164 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs10519919	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10519922	0.84[EUR][1000 genomes]
rs10519923	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12518420	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12651864	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12652390	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12652417	0.84[EUR][1000 genomes]
rs12653000	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12653290	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12653444	0.84[EUR][1000 genomes]
rs12654717	0.84[EUR][1000 genomes]
rs12654725	0.84[EUR][1000 genomes]
rs12654808	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12655006	0.84[EUR][1000 genomes]
rs12655199	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12655223	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12655258	0.84[EUR][1000 genomes]
rs12655319	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12655435	0.84[EUR][1000 genomes]
rs12655605	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12655726	0.84[EUR][1000 genomes]
rs12655928	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12655991	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12656236	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12656537	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12656837	0.84[EUR][1000 genomes]
rs12658138	0.84[EUR][1000 genomes]
rs12658174	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12658599	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12658816	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12658821	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12659476	0.84[EUR][1000 genomes]
rs12659607	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12659614	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12659633	0.84[EUR][1000 genomes]
rs17165192	0.84[EUR][1000 genomes]
rs17165194	0.84[EUR][1000 genomes]
rs17165211	0.84[EUR][1000 genomes]
rs17165228	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17165234	0.84[EUR][1000 genomes]
rs17165239	0.84[EUR][1000 genomes]
rs17165249	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34416835	0.84[EUR][1000 genomes]
rs34738240	0.84[EUR][1000 genomes]
rs35566904	0.84[EUR][1000 genomes]
rs35627668	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36091921	0.84[EUR][1000 genomes]
rs3812061	1.00[AFR][1000 genomes]
rs4141169	0.84[EUR][1000 genomes]
rs55792418	0.84[EUR][1000 genomes]
rs55802546	0.84[EUR][1000 genomes]
rs56094173	0.84[EUR][1000 genomes]
rs56124224	0.84[EUR][1000 genomes]
rs56272610	0.84[EUR][1000 genomes]
rs56688052	0.84[EUR][1000 genomes]
rs56689722	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56786115	0.84[EUR][1000 genomes]
rs57031083	0.80[ASN][1000 genomes]
rs57032367	0.84[EUR][1000 genomes]
rs57052202	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57081850	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57113926	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs57627287	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57700815	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57833976	0.84[EUR][1000 genomes]
rs57906418	0.85[ASN][1000 genomes]
rs57915728	0.84[EUR][1000 genomes]
rs58164143	0.84[EUR][1000 genomes]
rs58262537	0.84[EUR][1000 genomes]
rs58527455	0.84[EUR][1000 genomes]
rs58646561	0.84[EUR][1000 genomes]
rs58838495	1.00[AFR][1000 genomes]
rs58894799	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59459356	0.84[EUR][1000 genomes]
rs59489123	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59643871	0.84[EUR][1000 genomes]
rs59676931	0.84[EUR][1000 genomes]
rs59814275	0.84[EUR][1000 genomes]
rs60045571	1.00[AFR][1000 genomes]
rs60138815	0.84[EUR][1000 genomes]
rs60244211	0.85[ASN][1000 genomes]
rs60615137	0.84[EUR][1000 genomes]
rs60636815	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60781824	0.84[EUR][1000 genomes]
rs60889784	0.84[EUR][1000 genomes]
rs61031864	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61258380	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61279308	0.84[EUR][1000 genomes]
rs61463824	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs61496590	0.80[ASN][1000 genomes]
rs61647801	0.80[ASN][1000 genomes]
rs61653213	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61685918	0.84[EUR][1000 genomes]
rs6862462	0.84[EUR][1000 genomes]
rs6872893	0.84[EUR][1000 genomes]
rs6877692	0.84[EUR][1000 genomes]
rs6882025	0.84[EUR][1000 genomes]
rs6883181	0.84[EUR][1000 genomes]
rs6888532	0.84[EUR][1000 genomes]
rs6893763	0.84[EUR][1000 genomes]
rs6899030	0.84[EUR][1000 genomes]
rs73335426	0.80[ASN][1000 genomes]
rs73335490	0.84[EUR][1000 genomes]
rs73335494	0.84[EUR][1000 genomes]
rs73335498	0.84[EUR][1000 genomes]
rs73335501	0.84[EUR][1000 genomes]
rs73337229	0.84[EUR][1000 genomes]
rs73337233	0.84[EUR][1000 genomes]
rs73337299	0.84[EUR][1000 genomes]
rs73783496	0.84[EUR][1000 genomes]
rs73783501	0.84[EUR][1000 genomes]
rs73783503	0.84[EUR][1000 genomes]
rs73783504	0.84[EUR][1000 genomes]
rs73783506	0.84[EUR][1000 genomes]
rs73783507	0.84[EUR][1000 genomes]
rs73786207	0.84[EUR][1000 genomes]
rs73786209	0.84[EUR][1000 genomes]
rs73786212	0.84[EUR][1000 genomes]
rs73786239	0.84[EUR][1000 genomes]
rs73786240	0.84[EUR][1000 genomes]
rs73786241	0.84[EUR][1000 genomes]
rs73786242	0.84[EUR][1000 genomes]
rs73786244	0.84[EUR][1000 genomes]
rs73786246	0.84[EUR][1000 genomes]
rs73786247	0.84[EUR][1000 genomes]
rs73786249	0.84[EUR][1000 genomes]
rs73786250	0.84[EUR][1000 genomes]
rs73786251	0.84[EUR][1000 genomes]
rs73786252	0.84[EUR][1000 genomes]
rs73786253	0.84[EUR][1000 genomes]
rs73786255	0.84[EUR][1000 genomes]
rs73786259	0.84[EUR][1000 genomes]
rs73786260	0.84[EUR][1000 genomes]
rs73786261	0.84[EUR][1000 genomes]
rs73786262	0.84[EUR][1000 genomes]
rs73786264	0.84[EUR][1000 genomes]
rs73786265	0.84[EUR][1000 genomes]
rs73786266	0.84[EUR][1000 genomes]
rs73786268	0.84[EUR][1000 genomes]
rs73786269	0.84[EUR][1000 genomes]
rs73786270	0.84[EUR][1000 genomes]
rs73786271	0.84[EUR][1000 genomes]
rs73786272	0.84[EUR][1000 genomes]
rs73786276	0.84[EUR][1000 genomes]
rs73786277	0.84[EUR][1000 genomes]
rs73786278	0.84[EUR][1000 genomes]
rs73786280	0.84[EUR][1000 genomes]
rs73786281	0.84[EUR][1000 genomes]
rs73786282	0.84[EUR][1000 genomes]
rs73786283	0.84[EUR][1000 genomes]
rs73786284	0.84[EUR][1000 genomes]
rs73786285	0.84[EUR][1000 genomes]
rs73786287	0.84[EUR][1000 genomes]
rs73786288	0.84[EUR][1000 genomes]
rs73786290	0.84[EUR][1000 genomes]
rs73786294	0.84[EUR][1000 genomes]
rs73786295	0.84[EUR][1000 genomes]
rs73786298	0.84[EUR][1000 genomes]
rs73787403	0.84[EUR][1000 genomes]
rs73787404	0.84[EUR][1000 genomes]
rs73787406	0.84[EUR][1000 genomes]
rs9918233	0.84[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	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126367600-126375800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:126367600-126376000	Weak transcription	Left Ventricle	heart
3	chr5:126367600-126376600	Weak transcription	Right Atrium	heart
4	chr5:126367600-126382000	Weak transcription	Primary B cells from cord blood	blood
5	chr5:126367600-126391800	Weak transcription	GM12878-XiMat	blood
6	chr5:126367800-126376600	Weak transcription	Pancreas	Pancrea
7	chr5:126368000-126376400	Weak transcription	K562	blood
8	chr5:126368000-126387200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr5:126370200-126379000	Weak transcription	Primary T cells from cord blood	blood
10	chr5:126372200-126391600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:126373200-126373400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:126373200-126373400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:126373200-126374200	Weak transcription	Right Ventricle	heart
14	chr5:126373200-126375000	Enhancers	Fetal Heart	heart

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