Variant report

Variant	rs57954532
Chromosome Location	chr5:90236366-90236367
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:89703602..89706051-chr5:90235055..90237032,2	K562	blood:
2	chr5:90228479..90231902-chr5:90233871..90236526,4	K562	blood:
3	chr5:90229694..90231320-chr5:90235004..90237466,2	K562	blood:
4	chr5:90233758..90236433-chr5:90675781..90678446,3	K562	blood:
5	chr5:90236183..90238569-chr5:90244503..90246881,2	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction
ENSG00000153140	Chromatin interaction
ENSG00000255647	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10035662	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10052015	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10052314	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10053303	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060641	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10061193	0.83[EUR][1000 genomes]
rs10078496	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10474336	0.87[ASN][1000 genomes]
rs10514340	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10942620	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12054681	0.94[ASN][1000 genomes]
rs12055217	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12513628	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12515473	0.83[ASN][1000 genomes]
rs12515481	0.91[ASN][1000 genomes]
rs12520956	0.91[ASN][1000 genomes]
rs12522395	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13355731	0.82[ASN][1000 genomes]
rs16869247	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17556421	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs28597697	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916698	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55977992	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs56908576	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs58201771	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878896	0.90[ASN][1000 genomes]
rs73185149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73185150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724016	0.94[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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90225800-90244000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:90228400-90239200	Weak transcription	Aorta	Aorta
3	chr5:90230400-90265200	Weak transcription	K562	blood
4	chr5:90231600-90250800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:90234600-90236800	Enhancers	HUVEC	blood vessel
6	chr5:90234600-90237600	Enhancers	A549	lung
7	chr5:90234800-90237000	Enhancers	NHEK	skin
8	chr5:90234800-90237600	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr5:90234800-90237800	Enhancers	Colon Smooth Muscle	Colon
10	chr5:90235000-90236800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:90235000-90236800	Enhancers	NH-A	brain
12	chr5:90235000-90237000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:90235000-90237000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr5:90235000-90237400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:90235000-90238400	Enhancers	Fetal Kidney	kidney
16	chr5:90235200-90236800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:90235200-90236800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:90235200-90237600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:90235200-90237600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:90235400-90236400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:90235400-90236400	Weak transcription	Brain Germinal Matrix	brain
22	chr5:90235600-90236800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:90235600-90237400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:90235600-90237400	Enhancers	Hela-S3	cervix
25	chr5:90235600-90238000	Enhancers	Rectal Smooth Muscle	rectum
26	chr5:90235800-90236400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:90235800-90236600	Enhancers	HepG2	liver
28	chr5:90235800-90236800	Enhancers	Fetal Stomach	stomach
29	chr5:90235800-90236800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr5:90235800-90236800	Enhancers	HMEC	breast
31	chr5:90235800-90237000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr5:90235800-90237600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:90235800-90237600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr5:90235800-90237600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:90235800-90237600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr5:90235800-90237600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:90236000-90236400	Enhancers	NHLF	lung
38	chr5:90236000-90236600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr5:90236000-90236800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr5:90236000-90236800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:90236000-90236800	Enhancers	HSMMtube	muscle
42	chr5:90236000-90237000	Enhancers	GM12878-XiMat	blood
43	chr5:90236000-90237200	Enhancers	Stomach Mucosa	stomach
44	chr5:90236000-90237600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr5:90236200-90236800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:90236200-90236800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:90236200-90236800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:90236200-90236800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr5:90236200-90236800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr5:90236200-90236800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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