Variant report

Variant	rs1435134
Chromosome Location	chr4:142153343-142153344
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	chr4:142151895..142154437-chr4:142247980..142250422,2	K562	blood:
3	chr4:142140626..142144064-chr4:142151418..142153859,4	MCF-7	breast:
4	chr4:142151524..142153740-chr4:142155253..142157789,3	K562	blood:
5	chr4:142147670..142151486-chr4:142153035..142157398,7	K562	blood:
6	chr4:142144194..142146374-chr4:142152131..142154462,2	MCF-7	breast:
7	chr4:142150167..142154437-chr4:142247980..142250502,4	K562	blood:

Variant related genes	Relation type
ENSG00000109445	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11100712	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11100713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11934874	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12646903	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12649778	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1435129	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1550057	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17007017	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17007038	1.00[CEU][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17350440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34402449	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3733484	1.00[ASW][hapmap];0.91[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3756106	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775594	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4956527	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4956528	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4956529	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58253388	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59162293	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62327562	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62327564	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62327566	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62327586	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6851044	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6855774	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6856137	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs715378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7663811	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7679975	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684664	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7697238	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7698661	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9637655	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1435134	ZNF330	Cis_1M	lymphoblastoid	RTeQTL
rs1435134	ZNF330	cis	lymphoblastoid	seeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142142600-142159400	Weak transcription	Spleen	Spleen
2	chr4:142142800-142154800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:142142800-142154800	Weak transcription	Pancreas	Pancrea
4	chr4:142143000-142154600	Weak transcription	Colonic Mucosa	Colon
5	chr4:142143200-142154800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:142143200-142157000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:142143400-142154800	Weak transcription	Fetal Stomach	stomach
8	chr4:142143400-142155000	Weak transcription	Fetal Brain Female	brain
9	chr4:142143400-142156400	Weak transcription	Stomach Mucosa	stomach
10	chr4:142143600-142154400	Weak transcription	HSMMtube	muscle
11	chr4:142143600-142154800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:142143600-142154800	Weak transcription	Fetal Intestine Small	intestine
13	chr4:142143600-142156400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:142143600-142156400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:142143800-142156600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:142143800-142156800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:142143800-142157000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr4:142143800-142158800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:142144000-142155400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:142144000-142156400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:142144000-142156800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:142144000-142156800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:142144000-142157000	Strong transcription	Fetal Thymus	thymus
24	chr4:142144000-142157200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr4:142144000-142158000	Strong transcription	HSMM	muscle
26	chr4:142144200-142156800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr4:142144200-142157000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:142144200-142157000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:142144200-142157200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:142144200-142157200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:142144400-142155400	Strong transcription	K562	blood
32	chr4:142144400-142156200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:142144400-142156600	Strong transcription	Primary B cells from cord blood	blood
34	chr4:142144400-142157200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:142144600-142156400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr4:142144600-142156800	Strong transcription	Primary hematopoietic stem cells	blood
37	chr4:142144600-142156800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:142144600-142156800	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr4:142144600-142156800	Strong transcription	Osteobl	bone
40	chr4:142144600-142157200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr4:142144800-142156800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr4:142144800-142157200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr4:142144800-142157600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:142144800-142157800	Strong transcription	Dnd41	blood
45	chr4:142144800-142158000	Strong transcription	Primary T cells from cord blood	blood
46	chr4:142145000-142156800	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr4:142145000-142158000	Weak transcription	Small Intestine	intestine
48	chr4:142145200-142157000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr4:142145400-142156600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr4:142145400-142157000	Strong transcription	Liver	Liver

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