Variant report

Variant	rs13423029
Chromosome Location	chr2:128640603-128640604
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128635469..128637916-chr2:128640003..128642247,2	MCF-7	breast:
2	chr2:128615096..128617034-chr2:128639554..128642249,2	MCF-7	breast:
3	chr2:128620576..128622259-chr2:128639297..128641005,2	K562	blood:
4	chr2:128638880..128641052-chr2:128643867..128645611,2	MCF-7	breast:
5	chr2:128613232..128619582-chr2:128635761..128644297,14	MCF-7	breast:
6	chr2:128457483..128460955-chr2:128638390..128643796,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173349	Chromatin interaction
ENSG00000144231	Chromatin interaction
ENSG00000272667	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10171898	0.81[ASN][1000 genomes]
rs10210695	0.81[ASN][1000 genomes]
rs11557685	0.81[ASN][1000 genomes]
rs11674513	0.81[ASN][1000 genomes]
rs11678032	0.81[ASN][1000 genomes]
rs11692524	0.81[ASN][1000 genomes]
rs11693759	0.81[ASN][1000 genomes]
rs13397060	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13421835	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17418125	0.81[ASN][1000 genomes]
rs17534053	0.81[ASN][1000 genomes]
rs17534123	0.81[ASN][1000 genomes]
rs17599575	0.81[ASN][1000 genomes]
rs17600177	0.81[ASN][1000 genomes]
rs3771291	0.81[ASN][1000 genomes]
rs56954978	0.81[ASN][1000 genomes]
rs57498556	0.81[ASN][1000 genomes]
rs57913162	0.81[ASN][1000 genomes]
rs57986825	0.81[ASN][1000 genomes]
rs58080260	0.81[ASN][1000 genomes]
rs59009188	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs59090605	0.81[ASN][1000 genomes]
rs59727076	0.81[ASN][1000 genomes]
rs59918187	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60087786	0.81[ASN][1000 genomes]
rs61187878	0.81[ASN][1000 genomes]
rs61730415	0.81[ASN][1000 genomes]
rs6714620	0.81[ASN][1000 genomes]
rs6734925	0.81[ASN][1000 genomes]
rs6756507	0.81[ASN][1000 genomes]
rs72963794	0.81[ASN][1000 genomes]
rs7560482	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574303	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575961	0.81[ASN][1000 genomes]
rs7585200	0.81[ASN][1000 genomes]
rs7591477	0.81[ASN][1000 genomes]
rs7605158	0.81[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	esv3368061	chr2:128375044-128672849	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv834367	chr2:128630791-128790072	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer 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
rs13423029	WDR33	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128616200-128641400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:128622800-128642200	Weak transcription	Small Intestine	intestine
3	chr2:128624600-128641600	Weak transcription	Stomach Mucosa	stomach
4	chr2:128625000-128641400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:128628600-128642000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:128629400-128641400	Weak transcription	Fetal Kidney	kidney
7	chr2:128630400-128641000	Strong transcription	Fetal Intestine Small	intestine
8	chr2:128631600-128641600	Weak transcription	Brain Substantia Nigra	brain
9	chr2:128631800-128641600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:128631800-128641600	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:128631800-128642000	Weak transcription	Esophagus	oesophagus
12	chr2:128631800-128642000	Weak transcription	Ovary	ovary
13	chr2:128631800-128642000	Weak transcription	Pancreas	Pancrea
14	chr2:128632200-128642400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:128632400-128641800	Weak transcription	Aorta	Aorta
16	chr2:128632600-128641400	Weak transcription	HSMMtube	muscle
17	chr2:128632600-128641800	Weak transcription	Psoas Muscle	Psoas
18	chr2:128632800-128641400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:128632800-128641400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:128633000-128641800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:128633200-128641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:128633200-128641200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:128634200-128641800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr2:128634600-128641600	Strong transcription	Fetal Intestine Large	intestine
25	chr2:128634800-128641200	Strong transcription	Fetal Stomach	stomach
26	chr2:128635200-128641800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:128635400-128641000	Strong transcription	Liver	Liver
28	chr2:128635600-128641400	Strong transcription	HMEC	breast
29	chr2:128635800-128641000	Strong transcription	Fetal Muscle Leg	muscle
30	chr2:128635800-128641200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:128635800-128641600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:128635800-128641600	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:128635800-128641600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:128635800-128641600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr2:128636000-128641200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:128636000-128641600	Strong transcription	Osteobl	bone
37	chr2:128636000-128641800	Strong transcription	Placenta	Placenta
38	chr2:128636600-128641000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:128636600-128641600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr2:128636800-128640800	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr2:128636800-128641000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:128636800-128641200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:128636800-128641400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:128636800-128641600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:128636800-128642000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr2:128637000-128641200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:128637000-128642200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:128637200-128641600	Strong transcription	NH-A	brain
49	chr2:128637400-128641400	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr2:128637400-128641400	Strong transcription	HUVEC	blood vessel

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