Variant report

Variant	rs59162293
Chromosome Location	chr4:142158774-142158775
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:142152209..142155959-chr4:142156950..142159501,4	K562	blood:
2	chr4:142157764..142162103-chr4:142246811..142251901,4	K562	blood:
3	chr4:142156458..142159953-chr4:142166244..142169936,4	K562	blood:

Variant related genes	Relation type
ENSG00000248810	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11100712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11100713	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11934874	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12646903	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12649778	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1435129	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1435134	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1550057	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17007017	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17007038	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17350440	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34402449	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3733484	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756106	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775594	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4956527	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4956528	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4956529	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58253388	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62327562	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62327564	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62327566	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62327586	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6851044	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6855774	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6856137	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs715378	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7663811	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7679975	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7684664	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7697238	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7698661	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9637655	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	esv2757959	chr4:142065661-142367951	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2759287	chr4:142065661-142367951	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59162293	ZNF330	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142142600-142159400	Weak transcription	Spleen	Spleen
2	chr4:142143800-142158800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:142151400-142166600	Weak transcription	NHLF	lung
4	chr4:142153400-142159000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:142155200-142158800	Weak transcription	Fetal Intestine Small	intestine
6	chr4:142155200-142158800	Weak transcription	Psoas Muscle	Psoas
7	chr4:142155200-142160200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:142155400-142160400	Weak transcription	Fetal Lung	lung
9	chr4:142155400-142167400	Weak transcription	K562	blood
10	chr4:142155600-142159000	Weak transcription	Brain Germinal Matrix	brain
11	chr4:142156000-142166800	Weak transcription	NHDF-Ad	bronchial
12	chr4:142156400-142159400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:142156600-142158800	Weak transcription	Primary B cells from cord blood	blood
14	chr4:142156600-142158800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:142156600-142159600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:142156600-142163200	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:142156600-142166600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:142156600-142166800	Weak transcription	NH-A	brain
19	chr4:142156800-142158800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr4:142156800-142158800	Weak transcription	Lung	lung
21	chr4:142156800-142161600	Weak transcription	Gastric	stomach
22	chr4:142156800-142166600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:142156800-142166600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:142156800-142166600	Weak transcription	Osteobl	bone
25	chr4:142156800-142166800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:142156800-142167400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:142157000-142158800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:142157000-142158800	Weak transcription	Liver	Liver
29	chr4:142157000-142158800	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:142157000-142159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:142157000-142159400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr4:142157000-142159400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:142157000-142161600	Weak transcription	GM12878-XiMat	blood
34	chr4:142157000-142166600	Weak transcription	HSMMtube	muscle
35	chr4:142157000-142167000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:142157200-142158800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr4:142157200-142158800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr4:142157200-142158800	Weak transcription	Thymus	Thymus
39	chr4:142157200-142159000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr4:142157200-142159000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:142157200-142159400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr4:142157200-142160600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:142157200-142166600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:142157200-142167000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:142157200-142167000	Weak transcription	Adipose Nuclei	Adipose
46	chr4:142157200-142167200	Weak transcription	Fetal Heart	heart
47	chr4:142157200-142167400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:142157400-142160200	Weak transcription	Left Ventricle	heart
49	chr4:142157600-142160400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:142157800-142159400	Weak transcription	Dnd41	blood

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