Variant report

Variant	rs60045571
Chromosome Location	chr5:126201752-126201753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:126195407..126197437-chr5:126200003..126202669,2	MCF-7	breast:
2	chr5:126201240..126202876-chr5:126283955..126286881,2	K562	blood:
3	chr5:126188650..126190173-chr5:126200115..126202238,2	K562	blood:
4	chr5:126165049..126167558-chr5:126199870..126202749,2	K562	blood:
5	chr5:126196960..126198923-chr5:126200721..126203078,3	K562	blood:
6	chr5:126188650..126191093-chr5:126200738..126202976,2	K562	blood:
7	chr5:126201588..126204262-chr5:126365462..126367986,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173926	Chromatin interaction

Extended variants
information (count: 181 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:177)

rs_ID	r²[population]
rs10040840	1.00[EUR][1000 genomes]
rs10519919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12518420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12651864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12652390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12652417	0.82[EUR][1000 genomes]
rs12653000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12653290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12653444	0.82[EUR][1000 genomes]
rs12654717	0.82[EUR][1000 genomes]
rs12654725	0.82[EUR][1000 genomes]
rs12654808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12655006	0.82[EUR][1000 genomes]
rs12655199	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12655223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12655258	0.82[EUR][1000 genomes]
rs12655319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12655435	0.82[EUR][1000 genomes]
rs12655605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12655726	0.82[EUR][1000 genomes]
rs12655928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12655991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12656236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12656537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12656837	0.82[EUR][1000 genomes]
rs12658138	0.82[EUR][1000 genomes]
rs12658174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12658599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12658608	1.00[AFR][1000 genomes]
rs12658816	0.82[EUR][1000 genomes]
rs12658821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12658822	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12659476	0.82[EUR][1000 genomes]
rs12659607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12659614	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12659633	0.82[EUR][1000 genomes]
rs17165194	0.82[EUR][1000 genomes]
rs17165211	0.82[EUR][1000 genomes]
rs17165228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17165234	0.82[EUR][1000 genomes]
rs17165239	0.82[EUR][1000 genomes]
rs17165249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34416835	0.82[EUR][1000 genomes]
rs34738240	0.82[EUR][1000 genomes]
rs35566904	0.82[EUR][1000 genomes]
rs35627668	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36091921	0.82[EUR][1000 genomes]
rs3812061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4141169	0.82[EUR][1000 genomes]
rs55792418	0.82[EUR][1000 genomes]
rs55802546	0.82[EUR][1000 genomes]
rs56074301	0.84[ASN][1000 genomes]
rs56094173	0.82[EUR][1000 genomes]
rs56124224	0.82[EUR][1000 genomes]
rs56272610	0.82[EUR][1000 genomes]
rs56688052	0.82[EUR][1000 genomes]
rs56689722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56786115	0.82[EUR][1000 genomes]
rs57029577	0.84[ASN][1000 genomes]
rs57031083	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57032367	0.82[EUR][1000 genomes]
rs57052202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57081850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57113926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57147740	0.84[ASN][1000 genomes]
rs57485054	1.00[EUR][1000 genomes]
rs57627287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57700815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57833976	0.82[EUR][1000 genomes]
rs57915728	0.82[EUR][1000 genomes]
rs58045453	0.84[ASN][1000 genomes]
rs58164143	0.82[EUR][1000 genomes]
rs58262537	0.82[EUR][1000 genomes]
rs58527455	0.82[EUR][1000 genomes]
rs58646561	0.82[EUR][1000 genomes]
rs58690406	0.84[ASN][1000 genomes]
rs58838495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58894799	0.82[EUR][1000 genomes]
rs59459356	0.82[EUR][1000 genomes]
rs59489123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59643871	0.82[EUR][1000 genomes]
rs59676931	0.82[EUR][1000 genomes]
rs59814275	0.82[EUR][1000 genomes]
rs60135355	0.84[ASN][1000 genomes]
rs60138815	0.82[EUR][1000 genomes]
rs60615137	0.82[EUR][1000 genomes]
rs60636815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60781824	0.82[EUR][1000 genomes]
rs60889784	0.82[EUR][1000 genomes]
rs61031864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61258380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61279308	0.82[EUR][1000 genomes]
rs61463824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61496590	1.00[EUR][1000 genomes]
rs61647801	0.82[EUR][1000 genomes]
rs61653213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61685918	0.82[EUR][1000 genomes]
rs6862462	0.82[EUR][1000 genomes]
rs6864607	1.00[EUR][1000 genomes]
rs6872893	0.82[EUR][1000 genomes]
rs6877692	0.82[EUR][1000 genomes]
rs6882025	0.82[EUR][1000 genomes]
rs6883181	0.82[EUR][1000 genomes]
rs6888532	0.82[EUR][1000 genomes]
rs6893763	0.82[EUR][1000 genomes]
rs6899030	0.82[EUR][1000 genomes]
rs72505648	1.00[EUR][1000 genomes]
rs73335426	1.00[EUR][1000 genomes]
rs73335444	1.00[EUR][1000 genomes]
rs73335447	1.00[EUR][1000 genomes]
rs73335461	1.00[EUR][1000 genomes]
rs73335474	1.00[EUR][1000 genomes]
rs73335490	0.82[EUR][1000 genomes]
rs73335494	0.82[EUR][1000 genomes]
rs73335498	0.82[EUR][1000 genomes]
rs73335501	0.82[EUR][1000 genomes]
rs73337229	0.82[EUR][1000 genomes]
rs73337233	0.82[EUR][1000 genomes]
rs73337299	0.82[EUR][1000 genomes]
rs73783470	0.84[ASN][1000 genomes]
rs73783476	1.00[EUR][1000 genomes]
rs73783496	0.82[EUR][1000 genomes]
rs73783501	0.82[EUR][1000 genomes]
rs73783503	0.82[EUR][1000 genomes]
rs73783504	0.82[EUR][1000 genomes]
rs73783506	0.82[EUR][1000 genomes]
rs73783507	0.82[EUR][1000 genomes]
rs73786207	0.82[EUR][1000 genomes]
rs73786209	0.82[EUR][1000 genomes]
rs73786212	0.82[EUR][1000 genomes]
rs73786239	0.82[EUR][1000 genomes]
rs73786240	0.82[EUR][1000 genomes]
rs73786241	0.82[EUR][1000 genomes]
rs73786242	0.82[EUR][1000 genomes]
rs73786244	0.82[EUR][1000 genomes]
rs73786246	0.82[EUR][1000 genomes]
rs73786247	0.82[EUR][1000 genomes]
rs73786249	0.82[EUR][1000 genomes]
rs73786250	0.82[EUR][1000 genomes]
rs73786251	0.82[EUR][1000 genomes]
rs73786252	0.82[EUR][1000 genomes]
rs73786253	0.82[EUR][1000 genomes]
rs73786255	0.82[EUR][1000 genomes]
rs73786259	0.82[EUR][1000 genomes]
rs73786260	0.82[EUR][1000 genomes]
rs73786261	0.82[EUR][1000 genomes]
rs73786262	0.82[EUR][1000 genomes]
rs73786264	0.82[EUR][1000 genomes]
rs73786265	0.82[EUR][1000 genomes]
rs73786266	0.82[EUR][1000 genomes]
rs73786268	0.82[EUR][1000 genomes]
rs73786269	0.82[EUR][1000 genomes]
rs73786270	0.82[EUR][1000 genomes]
rs73786271	0.82[EUR][1000 genomes]
rs73786272	0.82[EUR][1000 genomes]
rs73786276	0.82[EUR][1000 genomes]
rs73786277	0.82[EUR][1000 genomes]
rs73786278	0.82[EUR][1000 genomes]
rs73786280	0.82[EUR][1000 genomes]
rs73786281	0.82[EUR][1000 genomes]
rs73786282	0.82[EUR][1000 genomes]
rs73786283	0.82[EUR][1000 genomes]
rs73786284	0.82[EUR][1000 genomes]
rs73786285	0.82[EUR][1000 genomes]
rs73786287	0.82[EUR][1000 genomes]
rs73786288	0.82[EUR][1000 genomes]
rs73786290	0.82[EUR][1000 genomes]
rs73786294	0.82[EUR][1000 genomes]
rs73786295	0.82[EUR][1000 genomes]
rs73786298	0.82[EUR][1000 genomes]
rs73787403	0.82[EUR][1000 genomes]
rs73787404	0.82[EUR][1000 genomes]
rs73787406	0.82[EUR][1000 genomes]
rs7701976	1.00[EUR][1000 genomes]
rs7715377	1.00[EUR][1000 genomes]
rs7727719	1.00[EUR][1000 genomes]
rs9918233	0.82[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	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv19186	chr5:126195468-126201782	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3330842	chr5:126201653-126205751	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126158000-126204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:126183600-126210400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:126188200-126203400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:126188600-126204400	Weak transcription	NH-A	brain
5	chr5:126188800-126204600	Weak transcription	NHLF	lung
6	chr5:126189400-126202600	Weak transcription	Right Atrium	heart
7	chr5:126190000-126203800	Weak transcription	Fetal Thymus	thymus
8	chr5:126190400-126204400	Weak transcription	Primary B cells from cord blood	blood
9	chr5:126190800-126203000	Weak transcription	Spleen	Spleen
10	chr5:126191400-126204600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:126191600-126204400	Weak transcription	Primary T cells from cord blood	blood
12	chr5:126191600-126204600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:126191600-126204600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr5:126194200-126204000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:126194200-126204200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr5:126194200-126204400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:126194200-126204600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:126194400-126202800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:126194400-126204000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:126194400-126204200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:126194400-126208000	Weak transcription	Right Ventricle	heart
22	chr5:126194600-126202800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:126194600-126204200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:126194600-126204800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:126199800-126204600	Enhancers	Fetal Brain Male	brain
26	chr5:126200200-126204000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:126200400-126202000	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:126200400-126202800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:126200400-126203000	Weak transcription	K562	blood
30	chr5:126200400-126203800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:126200400-126204600	Weak transcription	Psoas Muscle	Psoas
32	chr5:126200400-126204800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:126200400-126205000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:126200400-126207800	Weak transcription	Dnd41	blood
35	chr5:126200800-126201800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:126200800-126201800	Enhancers	HSMMtube	muscle
37	chr5:126200800-126202600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr5:126201000-126201800	Strong transcription	A549	lung
39	chr5:126201000-126203000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr5:126201000-126204400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr5:126201000-126204600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr5:126201200-126204000	Weak transcription	Thymus	Thymus
43	chr5:126201200-126204400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:126201200-126204600	Weak transcription	NHDF-Ad	bronchial
45	chr5:126201600-126201800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:126201600-126202600	Weak transcription	HUVEC	blood vessel
47	chr5:126201600-126203000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr5:126201600-126203200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr5:126201600-126204200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:126201600-126204200	Weak transcription	HSMM	muscle

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