Variant report

Variant	rs56322048
Chromosome Location	chr1:247474249-247474250
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247473800..247482682-chr1:247490121..247498423,19	K562	blood:
2	chr1:247463122..247466119-chr1:247473298..247475329,2	K562	blood:
3	chr1:247473280..247476561-chr1:247492352..247496915,5	MCF-7	breast:
4	chr1:247467380..247471480-chr1:247472464..247476921,4	K562	blood:
5	chr1:247472293..247474768-chr1:247477088..247479599,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162714	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10754545	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1192833	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12023326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12023478	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12026978	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12027522	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12034916	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034919	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12035371	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12035515	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12047860	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12048553	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12404914	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17664745	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3850825	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56013900	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56335231	0.89[ASN][1000 genomes]
rs56366903	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56396334	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56740645	0.84[AMR][1000 genomes]
rs58522562	0.86[ASN][1000 genomes]
rs6426239	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6690864	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6697861	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7522071	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv833126	chr1:247273084-247476150	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	n/a
3	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
4	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
5	nsv833137	chr1:247437317-247607428	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56322048	ZNF496	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247456000-247493400	Weak transcription	Right Atrium	heart
2	chr1:247459800-247485800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:247460400-247493400	Strong transcription	Fetal Muscle Leg	muscle
4	chr1:247460800-247474800	Strong transcription	Brain Cingulate Gyrus	brain
5	chr1:247460800-247476200	Weak transcription	HMEC	breast
6	chr1:247460800-247479800	Strong transcription	Fetal Brain Female	brain
7	chr1:247460800-247481000	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:247460800-247491800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:247460800-247493400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr1:247461000-247475400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:247461000-247485400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:247461200-247485400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:247461200-247488200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:247461400-247485400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:247461400-247493800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:247461600-247475200	Strong transcription	Aorta	Aorta
17	chr1:247461600-247481000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:247462200-247480000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:247462400-247474400	Strong transcription	Dnd41	blood
20	chr1:247462400-247475600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:247462600-247479200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:247462800-247488000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:247463000-247475000	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr1:247463000-247477000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:247463000-247486200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:247463000-247486400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:247463000-247493600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:247463200-247481000	Strong transcription	Left Ventricle	heart
29	chr1:247463200-247493400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:247463400-247486000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:247463400-247486600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:247464600-247479600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:247464600-247486000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr1:247464800-247493400	Strong transcription	Fetal Stomach	stomach
35	chr1:247465200-247493400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:247465400-247475000	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:247466800-247485600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:247467600-247493800	Weak transcription	Stomach Mucosa	stomach
39	chr1:247467800-247475200	Strong transcription	Fetal Thymus	thymus
40	chr1:247467800-247475400	Strong transcription	Thymus	Thymus
41	chr1:247468400-247494000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr1:247469000-247493600	Weak transcription	Psoas Muscle	Psoas
43	chr1:247469400-247478600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:247469400-247493800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:247470400-247475400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:247471200-247485600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:247471800-247478800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:247471800-247480400	Weak transcription	GM12878-XiMat	blood
49	chr1:247471800-247493400	Weak transcription	Fetal Heart	heart
50	chr1:247472400-247478600	Weak transcription	NHDF-Ad	bronchial

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