Variant report

Variant	rs1133929
Chromosome Location	chr19:43983740-43983741
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:43979844..43983821-chr19:43985802..43988529,4	MCF-7	breast:
2	chr19:43964006..43968075-chr19:43982623..43986349,3	MCF-7	breast:
3	chr19:43951229..43953633-chr19:43981664..43984219,2	MCF-7	breast:
4	chr19:43978041..43981341-chr19:43983217..43985087,4	K562	blood:
5	chr19:43978041..43981148-chr19:43983217..43985461,3	K562	blood:

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

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

rs_ID	r²[population]
rs2599435	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2599436	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2599440	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2682543	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2682580	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4330013	0.85[AMR][1000 genomes];0.92[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	esv3417194	chr19:43975161-44000760	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43970000-43998200	Weak transcription	Gastric	stomach
2	chr19:43973800-43999800	Weak transcription	HepG2	liver
3	chr19:43979600-44005800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:43979800-43985200	Weak transcription	Ovary	ovary
5	chr19:43979800-43990200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:43979800-43992400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:43979800-43994800	Weak transcription	Left Ventricle	heart
8	chr19:43979800-43998400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:43979800-43998600	Weak transcription	Lung	lung
10	chr19:43979800-43998800	Weak transcription	Aorta	Aorta
11	chr19:43979800-43998800	Weak transcription	Pancreas	Pancrea
12	chr19:43980000-43984000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:43980000-43984000	Weak transcription	Fetal Heart	heart
14	chr19:43980000-43985000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr19:43980000-43989000	Strong transcription	Fetal Intestine Small	intestine
16	chr19:43980000-43990600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr19:43980000-43990800	Weak transcription	Colonic Mucosa	Colon
18	chr19:43980000-43994600	Weak transcription	Brain Anterior Caudate	brain
19	chr19:43980000-43994800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:43980000-43995000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:43980000-43998600	Weak transcription	Brain Germinal Matrix	brain
22	chr19:43980000-43998600	Weak transcription	Fetal Brain Female	brain
23	chr19:43980000-43998800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr19:43980000-43999400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:43980000-43999400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr19:43980000-43999600	Weak transcription	Brain Angular Gyrus	brain
27	chr19:43980000-43999600	Weak transcription	Colon Smooth Muscle	Colon
28	chr19:43980000-44001000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr19:43980000-44001000	Weak transcription	Fetal Lung	lung
30	chr19:43980000-44001200	Weak transcription	Brain Substantia Nigra	brain
31	chr19:43980000-44001200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr19:43980000-44005600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr19:43980000-44005600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr19:43980000-44006200	Weak transcription	HMEC	breast
35	chr19:43980200-43988800	Strong transcription	Liver	Liver
36	chr19:43980200-43989800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr19:43980200-43999600	Weak transcription	Adipose Nuclei	Adipose
38	chr19:43980200-44001000	Weak transcription	Fetal Thymus	thymus
39	chr19:43980400-43984800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr19:43980400-43986600	Strong transcription	Fetal Stomach	stomach
41	chr19:43980400-43990800	Weak transcription	Primary B cells from cord blood	blood
42	chr19:43980400-43998200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr19:43980400-43998800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr19:43980400-43999000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:43980400-43999200	Weak transcription	Placenta	Placenta
46	chr19:43980400-43999800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr19:43980400-44000400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr19:43980400-44001200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr19:43980800-43984200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr19:43980800-43998200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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