Variant report

Variant	rs3775594
Chromosome Location	chr4:142143252-142143253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:142142150..142144125-chr4:142248641..142251434,2	K562	blood:
2	chr4:142142124..142144321-chr4:142377735..142379991,2	K562	blood:
3	chr4:142142186..142143758-chr4:142159859..142162122,2	K562	blood:
4	chr4:142142382..142144956-chr4:142145534..142149022,4	MCF-7	breast:

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

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

rs_ID	r²[population]
rs11100712	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11100713	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11934874	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12646903	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12649778	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1435129	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1435134	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1550057	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17007017	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007038	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17350440	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34402449	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3733484	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3756106	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4956527	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4956528	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4956529	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58253388	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59162293	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62327562	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62327564	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62327566	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62327586	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6851044	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6855774	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6856137	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs715378	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7663811	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7679975	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7684664	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7697238	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7698661	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9637655	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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
rs3775594	ZNF330	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142141400-142143400	Active TSS	GM12878-XiMat	blood
2	chr4:142141400-142145600	Active TSS	Right Ventricle	heart
3	chr4:142141600-142143400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:142141600-142143600	Active TSS	Psoas Muscle	Psoas
5	chr4:142141600-142145000	Active TSS	Right Atrium	heart
6	chr4:142141800-142143400	Active TSS	Aorta	Aorta
7	chr4:142141800-142143400	Active TSS	Brain Hippocampus Middle	brain
8	chr4:142141800-142143400	Active TSS	Stomach Smooth Muscle	stomach
9	chr4:142141800-142143400	Active TSS	HMEC	breast
10	chr4:142141800-142143600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:142141800-142143600	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr4:142141800-142143600	Active TSS	Hela-S3	cervix
13	chr4:142141800-142143600	Active TSS	HSMM	muscle
14	chr4:142141800-142143600	Active TSS	HSMMtube	muscle
15	chr4:142141800-142143600	Active TSS	NHDF-Ad	bronchial
16	chr4:142141800-142143600	Active TSS	NHLF	lung
17	chr4:142141800-142143800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr4:142141800-142143800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:142141800-142143800	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr4:142141800-142145000	Active TSS	Left Ventricle	heart
21	chr4:142142000-142143400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:142142000-142143400	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr4:142142000-142143400	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr4:142142000-142143400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:142142000-142143400	Active TSS	Muscle Satellite Cultured Cells	--
26	chr4:142142000-142143400	Active TSS	Fetal Brain Male	brain
27	chr4:142142000-142143400	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr4:142142000-142143400	Active TSS	NH-A	brain
29	chr4:142142000-142143600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:142142000-142143600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:142142000-142143600	Active TSS	Fetal Heart	heart
32	chr4:142142000-142143600	Active TSS	Placenta	Placenta
33	chr4:142142000-142143800	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr4:142142400-142143400	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr4:142142600-142143600	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr4:142142600-142143600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:142142600-142144600	Weak transcription	Small Intestine	intestine
38	chr4:142142600-142159400	Weak transcription	Spleen	Spleen
39	chr4:142142800-142143400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:142142800-142143400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr4:142142800-142143600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:142142800-142143600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:142142800-142143600	Flanking Active TSS	HUVEC	blood vessel
44	chr4:142142800-142144000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr4:142142800-142150400	Weak transcription	Ovary	ovary
46	chr4:142142800-142150600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr4:142142800-142150600	Weak transcription	Esophagus	oesophagus
48	chr4:142142800-142150600	Weak transcription	Gastric	stomach
49	chr4:142142800-142150600	Weak transcription	Lung	lung
50	chr4:142142800-142150600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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