Variant report

Variant	rs58000341
Chromosome Location	chr19:40454477-40454478
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	chr19:40449986..40451522-chr19:40453683..40455500,2	MCF-7	breast:
2	chr19:40449562..40451317-chr19:40454220..40457109,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187534	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1865081	1.00[AMR][1000 genomes]
rs60365201	0.94[AFR][1000 genomes]
rs61347180	0.94[AFR][1000 genomes]
rs7249716	1.00[AMR][1000 genomes]
rs73545960	0.94[AFR][1000 genomes]
rs73545976	0.94[AFR][1000 genomes]
rs73547687	0.88[AFR][1000 genomes]
rs73553612	1.00[AMR][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	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40447800-40457000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:40448400-40455600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:40448400-40457600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:40449200-40457200	Weak transcription	Small Intestine	intestine
5	chr19:40450000-40461200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr19:40450000-40461800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr19:40450200-40456600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr19:40450400-40458600	Weak transcription	Thymus	Thymus
9	chr19:40450600-40457200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr19:40451200-40454800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr19:40451400-40455000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr19:40451400-40456600	Weak transcription	Fetal Thymus	thymus
13	chr19:40451600-40458800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr19:40452000-40454800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr19:40452400-40457000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr19:40452800-40456000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:40453000-40454800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:40453000-40457000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr19:40453000-40457600	Weak transcription	Stomach Mucosa	stomach
20	chr19:40453000-40466000	Weak transcription	Fetal Intestine Small	intestine
21	chr19:40453600-40454600	Enhancers	Primary T cells from cord blood	blood
22	chr19:40453600-40457600	Enhancers	Primary B cells from peripheral blood	blood
23	chr19:40453600-40457600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr19:40453800-40455200	Enhancers	Primary B cells from cord blood	blood
25	chr19:40454400-40454800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr19:40454400-40459200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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