Variant report

Variant	rs73458420
Chromosome Location	chr13:30733138-30733139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30706508..30707378-chr13:30732684..30733541,7	MCF-7	breast:
2	chr13:30688932..30689485-chr13:30732660..30733617,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KATNAL1-2	chr13:30727171-30733758	XLOC_010554

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1107118	1.00[EUR][1000 genomes]
rs11839185	1.00[EUR][1000 genomes]
rs11841189	1.00[EUR][1000 genomes]
rs55805305	1.00[EUR][1000 genomes]
rs73443604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458409	1.00[EUR][1000 genomes]
rs73458414	1.00[EUR][1000 genomes]
rs73458419	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73460544	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74043036	1.00[EUR][1000 genomes]
rs7983319	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv981	chr13:30703159-30739838	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv561393	chr13:30726893-30748122	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30715000-30734000	Enhancers	Primary T cells fromperipheralblood	blood
2	chr13:30719800-30733800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr13:30727800-30734600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:30729600-30737400	Weak transcription	Spleen	Spleen
5	chr13:30730000-30733600	Enhancers	Primary B cells from peripheral blood	blood
6	chr13:30731800-30733400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr13:30732000-30733400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr13:30732000-30733600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr13:30732000-30733800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr13:30732200-30733600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr13:30732200-30733600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr13:30732200-30733800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr13:30732200-30734600	Enhancers	GM12878-XiMat	blood
14	chr13:30732400-30733600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr13:30732400-30733800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:30732400-30733800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr13:30732600-30733200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr13:30732600-30733200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr13:30732600-30733800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:30732600-30734000	Enhancers	HSMM	muscle
21	chr13:30732600-30734200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:30732800-30733200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr13:30732800-30733400	Enhancers	Osteobl	bone
24	chr13:30732800-30733800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:30732800-30733800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr13:30732800-30733800	Enhancers	Adipose Nuclei	Adipose
27	chr13:30732800-30734000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr13:30732800-30734000	Enhancers	Primary T cells from cord blood	blood
29	chr13:30732800-30734000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:30732800-30734000	Enhancers	NH-A	brain
31	chr13:30732800-30734000	Enhancers	NHDF-Ad	bronchial
32	chr13:30733000-30733200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr13:30733000-30734000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr13:30733000-30734000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:30733000-30740600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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