Variant report

Variant	rs73184429
Chromosome Location	chr13:51101697-51101698
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	chr13:51101696-51101778	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr13:51101197-51101871	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr13:51101560-51101710	HRE	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50698611..50701082-chr13:51100302..51101813,2	MCF-7	breast:
2	chr13:50698015..50701526-chr13:51100615..51103673,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229323	TF binding region
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11841965	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3118906	0.84[AFR][1000 genomes]
rs41284832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73184414	0.83[AFR][1000 genomes]
rs73184428	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73184436	1.00[EUR][1000 genomes]
rs73184440	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs74077828	0.82[AFR][1000 genomes]
rs74078321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51087800-51102000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:51093400-51102000	Weak transcription	HSMMtube	muscle
3	chr13:51095800-51102000	Weak transcription	Right Ventricle	heart
4	chr13:51096000-51101800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr13:51096000-51103200	Weak transcription	Ovary	ovary
6	chr13:51096200-51102200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr13:51096600-51103400	Weak transcription	Small Intestine	intestine
8	chr13:51097200-51102800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr13:51097600-51103400	Weak transcription	Fetal Intestine Small	intestine
10	chr13:51098600-51102000	Weak transcription	NHDF-Ad	bronchial
11	chr13:51098600-51103000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:51099200-51103200	Weak transcription	Liver	Liver
13	chr13:51099600-51103000	Enhancers	Dnd41	blood
14	chr13:51099800-51104000	Enhancers	Fetal Muscle Leg	muscle
15	chr13:51099800-51104000	Enhancers	Fetal Thymus	thymus
16	chr13:51099800-51104000	Enhancers	Thymus	Thymus
17	chr13:51100000-51102600	Enhancers	Primary B cells from peripheral blood	blood
18	chr13:51100000-51102800	Enhancers	Fetal Heart	heart
19	chr13:51100000-51105200	Enhancers	Primary T cells from cord blood	blood
20	chr13:51100200-51101800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:51100200-51101800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr13:51100400-51101800	Enhancers	Fetal Stomach	stomach
23	chr13:51100400-51102800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:51100400-51102800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr13:51100400-51105200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr13:51100600-51102000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr13:51100600-51102600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr13:51100600-51103200	Enhancers	Brain Hippocampus Middle	brain
29	chr13:51100600-51103400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:51100600-51103800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr13:51100600-51103800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr13:51100600-51104000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr13:51100600-51104200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr13:51100800-51102000	Enhancers	Primary B cells from cord blood	blood
35	chr13:51100800-51102000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr13:51100800-51102400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr13:51100800-51102600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr13:51100800-51102600	Enhancers	Fetal Muscle Trunk	muscle
39	chr13:51100800-51102600	Enhancers	Placenta	Placenta
40	chr13:51100800-51102800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr13:51100800-51103200	Enhancers	Brain Anterior Caudate	brain
42	chr13:51100800-51103400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr13:51100800-51103400	Enhancers	Brain Cingulate Gyrus	brain
44	chr13:51100800-51103400	Enhancers	Brain Substantia Nigra	brain
45	chr13:51100800-51103800	Enhancers	Primary hematopoietic stem cells	blood
46	chr13:51100800-51104200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr13:51101000-51101800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr13:51101000-51101800	Enhancers	Rectal Smooth Muscle	rectum
49	chr13:51101000-51101800	Active TSS	Stomach Smooth Muscle	stomach
50	chr13:51101000-51102000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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