Variant report

Variant	rs61258380
Chromosome Location	chr5:126414571-126414572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126413662..126415249-chr5:126420979..126423397,2	K562	blood:
2	chr5:126408546..126411993-chr5:126414423..126416954,3	MCF-7	breast:
3	chr5:126408693..126410786-chr5:126410811..126415809,5	K562	blood:
4	chr5:126412728..126415434-chr5:126427672..126429243,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164241	Chromatin interaction

Extended variants
information (count: 199 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:195)

rs_ID	r²[population]
rs10040840	0.82[EUR][1000 genomes]
rs10519919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519922	1.00[EUR][1000 genomes]
rs10519923	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12518420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12651864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12652019	0.91[EUR][1000 genomes]
rs12652390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12652417	1.00[EUR][1000 genomes]
rs12653000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12653290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12653444	1.00[EUR][1000 genomes]
rs12654313	0.91[EUR][1000 genomes]
rs12654717	1.00[EUR][1000 genomes]
rs12654725	1.00[EUR][1000 genomes]
rs12654808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12655006	1.00[EUR][1000 genomes]
rs12655199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12655223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12655258	1.00[EUR][1000 genomes]
rs12655319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12655435	1.00[EUR][1000 genomes]
rs12655605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12655726	1.00[EUR][1000 genomes]
rs12655928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12655991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12656236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12656537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12656837	1.00[EUR][1000 genomes]
rs12658138	1.00[EUR][1000 genomes]
rs12658174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12658599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12658608	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12658816	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12658821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12658822	0.82[EUR][1000 genomes]
rs12659424	0.82[EUR][1000 genomes]
rs12659476	1.00[EUR][1000 genomes]
rs12659607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12659614	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12659633	1.00[EUR][1000 genomes]
rs17165192	1.00[EUR][1000 genomes]
rs17165194	1.00[EUR][1000 genomes]
rs17165211	1.00[EUR][1000 genomes]
rs17165228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165234	1.00[EUR][1000 genomes]
rs17165239	1.00[EUR][1000 genomes]
rs17165249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17762544	0.91[EUR][1000 genomes]
rs17839703	0.92[EUR][1000 genomes]
rs34416835	1.00[EUR][1000 genomes]
rs34738240	1.00[EUR][1000 genomes]
rs35566904	1.00[EUR][1000 genomes]
rs35627668	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36091921	1.00[EUR][1000 genomes]
rs3812061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4141169	1.00[EUR][1000 genomes]
rs55792418	1.00[EUR][1000 genomes]
rs55802546	1.00[EUR][1000 genomes]
rs56094173	1.00[EUR][1000 genomes]
rs56122855	0.92[EUR][1000 genomes]
rs56124224	1.00[EUR][1000 genomes]
rs56171951	0.92[EUR][1000 genomes]
rs56272610	1.00[EUR][1000 genomes]
rs56688052	1.00[EUR][1000 genomes]
rs56689722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56786115	1.00[EUR][1000 genomes]
rs57031083	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57032367	1.00[EUR][1000 genomes]
rs57052202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57081850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57113926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57485054	0.82[EUR][1000 genomes]
rs57627287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57700815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57833976	1.00[EUR][1000 genomes]
rs57906418	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57915728	1.00[EUR][1000 genomes]
rs58011598	0.82[EUR][1000 genomes]
rs58164143	1.00[EUR][1000 genomes]
rs58249730	0.91[EUR][1000 genomes]
rs58262537	1.00[EUR][1000 genomes]
rs58527455	1.00[EUR][1000 genomes]
rs58646561	1.00[EUR][1000 genomes]
rs58727001	0.82[EUR][1000 genomes]
rs58838495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58894799	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59459356	1.00[EUR][1000 genomes]
rs59489123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59643871	1.00[EUR][1000 genomes]
rs59676931	1.00[EUR][1000 genomes]
rs59814275	1.00[EUR][1000 genomes]
rs59871357	0.82[EUR][1000 genomes]
rs60045571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60138783	0.82[EUR][1000 genomes]
rs60138815	1.00[EUR][1000 genomes]
rs60244211	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60615137	1.00[EUR][1000 genomes]
rs60636815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60781824	1.00[EUR][1000 genomes]
rs60889784	1.00[EUR][1000 genomes]
rs61031864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61279308	1.00[EUR][1000 genomes]
rs61463824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61496590	0.82[EUR][1000 genomes]
rs61653213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61685918	1.00[EUR][1000 genomes]
rs6862462	1.00[EUR][1000 genomes]
rs6864607	0.82[EUR][1000 genomes]
rs6872893	1.00[EUR][1000 genomes]
rs6877692	1.00[EUR][1000 genomes]
rs6882025	1.00[EUR][1000 genomes]
rs6883181	1.00[EUR][1000 genomes]
rs6888532	1.00[EUR][1000 genomes]
rs6893763	1.00[EUR][1000 genomes]
rs6899030	1.00[EUR][1000 genomes]
rs72505648	0.82[EUR][1000 genomes]
rs73335426	0.82[EUR][1000 genomes]
rs73335444	0.82[EUR][1000 genomes]
rs73335447	0.82[EUR][1000 genomes]
rs73335461	0.82[EUR][1000 genomes]
rs73335474	0.82[EUR][1000 genomes]
rs73335490	1.00[EUR][1000 genomes]
rs73335494	1.00[EUR][1000 genomes]
rs73335498	1.00[EUR][1000 genomes]
rs73335501	1.00[EUR][1000 genomes]
rs73337225	0.84[EUR][1000 genomes]
rs73337229	1.00[EUR][1000 genomes]
rs73337233	1.00[EUR][1000 genomes]
rs73337299	1.00[EUR][1000 genomes]
rs73783476	0.82[EUR][1000 genomes]
rs73783496	1.00[EUR][1000 genomes]
rs73783501	1.00[EUR][1000 genomes]
rs73783503	1.00[EUR][1000 genomes]
rs73783504	1.00[EUR][1000 genomes]
rs73783506	1.00[EUR][1000 genomes]
rs73783507	1.00[EUR][1000 genomes]
rs73785546	0.82[EUR][1000 genomes]
rs73785547	0.82[EUR][1000 genomes]
rs73785555	0.82[EUR][1000 genomes]
rs73785556	0.82[EUR][1000 genomes]
rs73785558	0.82[EUR][1000 genomes]
rs73786207	1.00[EUR][1000 genomes]
rs73786209	1.00[EUR][1000 genomes]
rs73786212	1.00[EUR][1000 genomes]
rs73786239	1.00[EUR][1000 genomes]
rs73786240	1.00[EUR][1000 genomes]
rs73786241	1.00[EUR][1000 genomes]
rs73786242	1.00[EUR][1000 genomes]
rs73786244	1.00[EUR][1000 genomes]
rs73786246	1.00[EUR][1000 genomes]
rs73786247	1.00[EUR][1000 genomes]
rs73786249	1.00[EUR][1000 genomes]
rs73786250	1.00[EUR][1000 genomes]
rs73786251	1.00[EUR][1000 genomes]
rs73786252	1.00[EUR][1000 genomes]
rs73786253	1.00[EUR][1000 genomes]
rs73786255	1.00[EUR][1000 genomes]
rs73786259	1.00[EUR][1000 genomes]
rs73786260	1.00[EUR][1000 genomes]
rs73786261	1.00[EUR][1000 genomes]
rs73786262	1.00[EUR][1000 genomes]
rs73786264	1.00[EUR][1000 genomes]
rs73786265	1.00[EUR][1000 genomes]
rs73786266	1.00[EUR][1000 genomes]
rs73786267	0.92[EUR][1000 genomes]
rs73786268	1.00[EUR][1000 genomes]
rs73786269	1.00[EUR][1000 genomes]
rs73786270	1.00[EUR][1000 genomes]
rs73786271	1.00[EUR][1000 genomes]
rs73786272	1.00[EUR][1000 genomes]
rs73786276	1.00[EUR][1000 genomes]
rs73786277	1.00[EUR][1000 genomes]
rs73786278	1.00[EUR][1000 genomes]
rs73786280	1.00[EUR][1000 genomes]
rs73786281	1.00[EUR][1000 genomes]
rs73786282	1.00[EUR][1000 genomes]
rs73786283	1.00[EUR][1000 genomes]
rs73786284	1.00[EUR][1000 genomes]
rs73786285	1.00[EUR][1000 genomes]
rs73786287	1.00[EUR][1000 genomes]
rs73786288	1.00[EUR][1000 genomes]
rs73786290	1.00[EUR][1000 genomes]
rs73786294	1.00[EUR][1000 genomes]
rs73786295	1.00[EUR][1000 genomes]
rs73786298	1.00[EUR][1000 genomes]
rs73787403	1.00[EUR][1000 genomes]
rs73787404	1.00[EUR][1000 genomes]
rs73787406	1.00[EUR][1000 genomes]
rs7701976	0.82[EUR][1000 genomes]
rs7715377	0.82[EUR][1000 genomes]
rs7723558	0.82[EUR][1000 genomes]
rs7727719	0.82[EUR][1000 genomes]
rs7728190	0.82[EUR][1000 genomes]
rs9918233	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1816248	chr5:126399039-126486539	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126409600-126415600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:126409600-126415600	Weak transcription	K562	blood
3	chr5:126409800-126415600	Weak transcription	NHEK	skin
4	chr5:126409800-126415800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:126410600-126414600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:126412000-126414800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:126412000-126414800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:126412200-126414800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:126412200-126416000	Enhancers	HepG2	liver
10	chr5:126412400-126416000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:126412600-126427400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:126412800-126415800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:126412800-126416000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:126412800-126416000	Weak transcription	NHLF	lung
15	chr5:126413200-126417000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:126413600-126415400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:126413600-126415600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:126413600-126416000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:126413600-126421800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:126413600-126424000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:126413600-126428000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:126413800-126415600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:126414000-126415200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:126414000-126415600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:126414000-126415600	Weak transcription	Fetal Intestine Small	intestine
26	chr5:126414000-126416200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:126414200-126415200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr5:126414200-126415400	Weak transcription	HMEC	breast
29	chr5:126414200-126415600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:126414200-126415600	Weak transcription	Fetal Intestine Large	intestine
31	chr5:126414400-126415000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:126414400-126415400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:126414400-126415400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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