Variant report

Variant	rs7552292
Chromosome Location	chr1:247480880-247480881
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247479235..247481801-chr1:247485562..247488525,3	K562	blood:
2	chr1:247473800..247482682-chr1:247490121..247498423,19	K562	blood:
3	chr1:247480078..247482500-chr1:247493800..247495690,2	MCF-7	breast:
4	chr1:247474674..247478504-chr1:247479189..247482346,3	K562	blood:
5	chr1:247457412..247459829-chr1:247480298..247481865,2	K562	blood:

Variant related genes	Relation type
ENSG00000202079	Chromatin interaction
ENSG00000162714	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10754542	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10754544	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10924983	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10924985	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10924989	0.85[ASN][1000 genomes]
rs11578583	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1192830	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1192831	0.90[ASN][1000 genomes]
rs1192832	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12035515	0.85[ASN][1000 genomes]
rs1204493	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1616299	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1771943	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1771948	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1778544	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1778546	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1778549	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2153631	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3850824	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4320815	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4925532	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4925533	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4925534	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4925615	0.93[ASN][1000 genomes]
rs4925621	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56037169	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56399534	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6674425	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6692645	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74163745	0.85[EUR][1000 genomes]
rs7418221	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7528202	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7540329	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs875883	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9426180	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9426181	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9426182	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9426233	0.90[ASN][1000 genomes]
rs9725334	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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	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
3	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
4	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
5	esv1305095	chr1:247480881-247480882	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7552292	ZNF496	cis	lung	GTEx
rs7552292	EDIL3	trans	lymphoblastoid	RTeQTL
rs7552292	ZNF496	cis	Esophagus Muscularis	GTEx
rs7552292	ZNF496	cis	Skin Sun Exposed Lower leg	GTEx
rs7552292	ZNF496	cis	Nerve Tibial	GTEx

Chromatin state (count:123 , 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	chr1:247460800-247481000	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:247460800-247491800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:247460800-247493400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr1:247461000-247485400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:247461200-247485400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:247461200-247488200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:247461400-247485400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:247461400-247493800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:247461600-247481000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:247462800-247488000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:247463000-247486200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:247463000-247486400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:247463000-247493600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:247463200-247481000	Strong transcription	Left Ventricle	heart
18	chr1:247463200-247493400	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:247463400-247486000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:247463400-247486600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:247464600-247486000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:247464800-247493400	Strong transcription	Fetal Stomach	stomach
23	chr1:247465200-247493400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:247466800-247485600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:247467600-247493800	Weak transcription	Stomach Mucosa	stomach
26	chr1:247468400-247494000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:247469000-247493600	Weak transcription	Psoas Muscle	Psoas
28	chr1:247469400-247493800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:247471200-247485600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:247471800-247493400	Weak transcription	Fetal Heart	heart
31	chr1:247472400-247483600	Weak transcription	Fetal Brain Male	brain
32	chr1:247472600-247484400	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:247472800-247482800	Weak transcription	Fetal Kidney	kidney
34	chr1:247472800-247493400	Weak transcription	Small Intestine	intestine
35	chr1:247473000-247485400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:247473000-247485600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:247473400-247483600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:247473400-247484800	Weak transcription	Colonic Mucosa	Colon
39	chr1:247473400-247484800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:247473400-247485200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:247473600-247483400	Weak transcription	Brain Substantia Nigra	brain
42	chr1:247473800-247481000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr1:247473800-247482600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:247473800-247483000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:247473800-247483400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:247473800-247485000	Weak transcription	HSMMtube	muscle
47	chr1:247474000-247483400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:247474000-247484200	Weak transcription	Brain Anterior Caudate	brain
49	chr1:247474000-247485000	Weak transcription	Esophagus	oesophagus
50	chr1:247474000-247488200	Weak transcription	Gastric	stomach

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