Variant report

Variant	rs2682580
Chromosome Location	chr19:43966454-43966455
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:43965066..43971111-chr19:44006791..44009897,14	MCF-7	breast:
2	chr19:43964006..43968075-chr19:43982623..43986349,3	MCF-7	breast:
3	chr19:43966113..43971089-chr19:44005040..44010546,6	K562	blood:

Variant related genes	Relation type
ENSG00000176531	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1133929	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2599435	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2599436	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2599440	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2682543	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4330013	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055872	chr19:43173614-44075193	Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv544009	chr19:43173614-44075193	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1067126	chr19:43260649-44075194	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv544015	chr19:43260649-44075194	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1057657	chr19:43302497-44076564	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1059631	chr19:43316978-44075054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv544030	chr19:43316978-44075054	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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 target site	40 gene(s)	inside rSNPs	diseases
8	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	62 gene(s)	inside rSNPs	diseases
11	nsv1058162	chr19:43846238-44055058	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv2501	chr19:43942581-43978424	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43957000-43967000	Weak transcription	Spleen	Spleen
2	chr19:43959800-43967000	Weak transcription	Colon Smooth Muscle	Colon
3	chr19:43960200-43967000	Weak transcription	Colonic Mucosa	Colon
4	chr19:43960200-43967000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr19:43960200-43967000	Weak transcription	Placenta	Placenta
6	chr19:43960200-43967400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:43960400-43967000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr19:43960400-43967000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:43960400-43967000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr19:43960600-43967000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:43963400-43966600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:43964000-43967200	Weak transcription	Ovary	ovary
13	chr19:43964600-43966800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:43964600-43967000	Enhancers	HepG2	liver
15	chr19:43964800-43967000	Strong transcription	NHEK	skin
16	chr19:43965000-43966600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:43965000-43966600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:43966000-43966600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr19:43966000-43966800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr19:43966200-43966600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr19:43966200-43966800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr19:43966200-43966800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:43966200-43967000	Enhancers	Primary T cells from cord blood	blood
24	chr19:43966200-43967000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr19:43966400-43966600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
26	chr19:43966400-43966600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr19:43966400-43966800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr19:43966400-43966800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:43966400-43967000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:43966400-43967000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr19:43966400-43967000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr19:43966400-43967000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr19:43966400-43967000	Genic enhancers	Esophagus	oesophagus
34	chr19:43966400-43967400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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