Variant report

Variant	rs2460749
Chromosome Location	chr19:43942089-43942090
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2460748	1.00[ASN][1000 genomes]
rs2599473	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682542	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682569	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682591	0.91[EUR][1000 genomes]
rs2682594	0.91[EUR][1000 genomes]
rs2682599	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4028279	1.00[ASN][1000 genomes]
rs73937424	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv1060280	chr19:43866823-43959685	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv520852	chr19:43885085-43960114	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv579850	chr19:43885085-43960114	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv1066231	chr19:43918840-43954915	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv579851	chr19:43920612-43955114	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv1061862	chr19:43925290-43954915	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv1058848	chr19:43925290-43957387	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43930400-43943000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr19:43931000-43942600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:43935200-43942800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr19:43937600-43942400	Weak transcription	A549	lung
5	chr19:43937600-43946400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr19:43939800-43942600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr19:43940200-43942600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr19:43940600-43942800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr19:43940600-43942800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr19:43940600-43944800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr19:43940800-43942600	Enhancers	Primary T cells from cord blood	blood
12	chr19:43940800-43942600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr19:43941200-43942600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr19:43941200-43942800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:43941400-43942600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:43941600-43944200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:43941600-43944200	Enhancers	Fetal Thymus	thymus
18	chr19:43941600-43944400	Enhancers	Primary B cells from peripheral blood	blood
19	chr19:43941800-43942200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:43941800-43942200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:43941800-43943200	Enhancers	Right Ventricle	heart
22	chr19:43941800-43943800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr19:43941800-43944000	Enhancers	Esophagus	oesophagus
24	chr19:43941800-43944000	Enhancers	Spleen	Spleen
25	chr19:43941800-43944200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:43941800-43944200	Enhancers	Thymus	Thymus
27	chr19:43942000-43942200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:43942000-43942200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr19:43942000-43942600	Enhancers	Hela-S3	cervix
30	chr19:43942000-43942600	Enhancers	NHEK	skin
31	chr19:43942000-43943000	Enhancers	Lung	lung
32	chr19:43942000-43943200	Enhancers	Colonic Mucosa	Colon
33	chr19:43942000-43944000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:43942000-43944200	Enhancers	Primary B cells from cord blood	blood
35	chr19:43942000-43944200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:43942000-43944200	Enhancers	Fetal Stomach	stomach

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