Variant report

Variant	rs73239129
Chromosome Location	chr3:113160745-113160746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:113160040-113160886	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
WDR52	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1082590	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs16861001	0.86[EUR][1000 genomes]
rs2650099	0.86[EUR][1000 genomes]
rs2936722	0.86[EUR][1000 genomes]
rs4682484	0.86[EUR][1000 genomes]
rs55671509	0.86[EUR][1000 genomes]
rs55720547	0.86[EUR][1000 genomes]
rs56036775	0.86[EUR][1000 genomes]
rs56044072	0.86[EUR][1000 genomes]
rs56045452	0.86[EUR][1000 genomes]
rs56204634	0.86[EUR][1000 genomes]
rs57529679	0.86[EUR][1000 genomes]
rs58512733	0.86[EUR][1000 genomes]
rs66730375	0.86[EUR][1000 genomes]
rs66784102	0.86[EUR][1000 genomes]
rs67201219	0.86[EUR][1000 genomes]
rs6803401	0.86[EUR][1000 genomes]
rs73235048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73235056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73235067	0.86[EUR][1000 genomes]
rs73235070	0.86[EUR][1000 genomes]
rs73235073	0.86[EUR][1000 genomes]
rs73235080	0.86[EUR][1000 genomes]
rs73235086	0.86[EUR][1000 genomes]
rs73235097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73235156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73237112	0.86[EUR][1000 genomes]
rs73237128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73239130	0.86[EUR][1000 genomes]
rs73241124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7613728	0.86[EUR][1000 genomes]
rs775234	0.86[EUR][1000 genomes]
rs799829	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113074400-113184400	Weak transcription	Hela-S3	cervix
2	chr3:113135200-113164600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:113136000-113176400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:113145800-113166000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr3:113145800-113176600	Weak transcription	Spleen	Spleen
6	chr3:113146000-113172000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:113146000-113191000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:113146200-113178600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr3:113146400-113165000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr3:113147000-113165600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr3:113147400-113165400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr3:113147600-113162400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr3:113147800-113178800	Weak transcription	HSMM	muscle
14	chr3:113156000-113179400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:113159200-113161200	Strong transcription	GM12878-XiMat	blood
16	chr3:113159400-113160800	Strong transcription	HSMMtube	muscle
17	chr3:113159400-113161000	Active TSS	Brain Anterior Caudate	brain
18	chr3:113159400-113163000	Strong transcription	A549	lung
19	chr3:113159600-113160800	Active TSS	Fetal Lung	lung
20	chr3:113159800-113160800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:113159800-113160800	Active TSS	Brain Germinal Matrix	brain
22	chr3:113159800-113160800	Active TSS	Rectal Smooth Muscle	rectum
23	chr3:113159800-113161000	Active TSS	Brain Hippocampus Middle	brain
24	chr3:113159800-113161000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:113160000-113160800	Active TSS	H9 Cell Line	embryonic stem cell
26	chr3:113160000-113160800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr3:113160000-113160800	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr3:113160000-113160800	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr3:113160000-113160800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:113160000-113160800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:113160000-113160800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:113160000-113160800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:113160000-113160800	Active TSS	Brain Angular Gyrus	brain
34	chr3:113160000-113160800	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr3:113160000-113160800	Active TSS	Colon Smooth Muscle	Colon
36	chr3:113160000-113160800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr3:113160000-113160800	Active TSS	Fetal Brain Female	brain
38	chr3:113160000-113160800	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr3:113160000-113160800	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr3:113160000-113160800	Active TSS	Right Atrium	heart
41	chr3:113160000-113160800	Active TSS	Right Ventricle	heart
42	chr3:113160000-113160800	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr3:113160000-113160800	Active TSS	HepG2	liver
44	chr3:113160000-113160800	Active TSS	NHLF	lung
45	chr3:113160000-113161000	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr3:113160000-113161000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr3:113160000-113161000	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr3:113160000-113161000	Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr3:113160000-113161000	Active TSS	Fetal Kidney	kidney
50	chr3:113160200-113160800	Active TSS	HUES6 Cell Line	embryonic stem cell

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