Variant report

Variant	rs73458409
Chromosome Location	chr13:30719361-30719362
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	chr13:30718966..30721747-chr13:30731503..30734403,2	MCF-7	breast:
2	chr13:30716922..30719833-chr13:30752505..30754476,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232117	Chromatin interaction

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]
rs57613215	0.83[AFR][1000 genomes]
rs73443604	1.00[EUR][1000 genomes]
rs73458414	1.00[EUR][1000 genomes]
rs73458419	1.00[EUR][1000 genomes]
rs73458420	1.00[EUR][1000 genomes]
rs73460544	1.00[EUR][1000 genomes]
rs74043036	1.00[EUR][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	esv1847946	chr13:30707385-30731192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30714600-30721800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr13:30715000-30734000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr13:30715200-30727600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr13:30715400-30720000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:30715400-30727200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr13:30715400-30727200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr13:30715600-30720000	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr13:30715600-30720000	Enhancers	GM12878-XiMat	blood
9	chr13:30716800-30720200	Weak transcription	Thymus	Thymus
10	chr13:30717000-30720400	Weak transcription	Dnd41	blood
11	chr13:30717400-30720000	Weak transcription	Fetal Thymus	thymus
12	chr13:30717600-30719800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr13:30717600-30720400	Weak transcription	Spleen	Spleen
14	chr13:30717800-30722800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr13:30717800-30723000	Weak transcription	Colonic Mucosa	Colon
16	chr13:30718000-30720000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr13:30718000-30720200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr13:30718000-30720200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr13:30718000-30725000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr13:30718000-30727800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr13:30718000-30728600	Weak transcription	Esophagus	oesophagus
22	chr13:30718200-30719400	Weak transcription	Primary T cells from cord blood	blood
23	chr13:30718400-30721200	Weak transcription	Adipose Nuclei	Adipose
24	chr13:30718400-30722200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr13:30718600-30720000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr13:30718600-30723000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:30718600-30727800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr13:30718800-30719800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr13:30718800-30720000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr13:30719000-30719600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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