Variant report

Variant	rs1383732
Chromosome Location	chr4:103953389-103953390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:103952859..103954621-chr4:104004055..104006985,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10025625	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs17033384	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17256589	0.83[CEU][hapmap]
rs2198199	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap]
rs28808638	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3960787	0.83[CEU][hapmap];0.85[JPT][hapmap];0.82[MEX][hapmap];0.82[AMR][1000 genomes]
rs4365729	0.86[ASN][1000 genomes]
rs60918511	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61279319	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9992771	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757946	chr4:103780705-104057321	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759270	chr4:103780705-104057321	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv461598	chr4:103807720-103953389	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv594978	chr4:103807720-103953389	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv3429917	chr4:103915319-104207455	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS 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 target site	20 gene(s)	inside rSNPs	diseases
6	nsv830021	chr4:103934454-104100588	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1383732	TET2	cis	parietal	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103941000-103953800	Weak transcription	Gastric	stomach
2	chr4:103941400-103953800	Weak transcription	Brain Germinal Matrix	brain
3	chr4:103941400-103957200	Weak transcription	Fetal Brain Male	brain
4	chr4:103941400-103964400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:103941400-103964800	Weak transcription	HSMM	muscle
6	chr4:103941400-103965200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:103941400-103967200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:103941400-103967800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:103941400-103968000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:103941400-103968000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr4:103941400-103969000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:103941400-103969200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:103941400-103974000	Weak transcription	Esophagus	oesophagus
14	chr4:103941400-103975200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:103941400-103989400	Weak transcription	NH-A	brain
16	chr4:103941400-103996600	Weak transcription	Lung	lung
17	chr4:103941600-103957000	Weak transcription	Ovary	ovary
18	chr4:103941600-103957000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:103941600-103963000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:103941600-103965400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:103941600-103965400	Weak transcription	NHEK	skin
22	chr4:103941600-103968000	Weak transcription	Fetal Muscle Leg	muscle
23	chr4:103941600-103969200	Weak transcription	Adipose Nuclei	Adipose
24	chr4:103941600-103969200	Weak transcription	Fetal Thymus	thymus
25	chr4:103941600-103989000	Weak transcription	HMEC	breast
26	chr4:103941800-103953800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:103941800-103955000	Weak transcription	Brain Anterior Caudate	brain
28	chr4:103941800-103964200	Weak transcription	GM12878-XiMat	blood
29	chr4:103941800-103964400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:103941800-103965200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr4:103941800-103965400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr4:103941800-103969600	Weak transcription	Brain Hippocampus Middle	brain
33	chr4:103941800-103994600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr4:103942000-103964400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr4:103942000-103964800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr4:103942000-103965200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr4:103942000-103969600	Weak transcription	Primary T cells from cord blood	blood
38	chr4:103942000-103994400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:103942000-103995200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr4:103942400-103964400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:103946200-103956400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:103947600-103968000	Weak transcription	NHDF-Ad	bronchial
43	chr4:103947800-103965000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr4:103947800-103996000	Weak transcription	Brain Angular Gyrus	brain
45	chr4:103948200-103969600	Weak transcription	Left Ventricle	heart
46	chr4:103948600-103970000	Weak transcription	Aorta	Aorta
47	chr4:103951000-103956200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:103951400-103965000	Weak transcription	Fetal Brain Female	brain
49	chr4:103951400-103972400	Weak transcription	NHLF	lung
50	chr4:103951600-103957000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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