Variant report

Variant	rs73930978
Chromosome Location	chr19:37865269-37865270
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs55696165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55880052	0.87[AFR][1000 genomes]
rs57082213	1.00[AMR][1000 genomes]
rs59680035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60177574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60574955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930974	1.00[AMR][1000 genomes]
rs73930979	1.00[AFR][1000 genomes]
rs73930982	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1058788	chr19:37857748-37899157	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv579464	chr19:37858660-37881556	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37862200-37867200	ZNF genes & repeats	A549	lung
2	chr19:37862600-37865800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:37862600-37865800	Weak transcription	Esophagus	oesophagus
4	chr19:37862600-37865800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:37862600-37866600	Weak transcription	Gastric	stomach
6	chr19:37862600-37866600	Weak transcription	Stomach Mucosa	stomach
7	chr19:37862600-37871000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:37862800-37865400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr19:37862800-37865400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr19:37862800-37865400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:37862800-37865400	Weak transcription	Fetal Kidney	kidney
12	chr19:37862800-37865600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:37862800-37865600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr19:37862800-37865800	Weak transcription	Psoas Muscle	Psoas
15	chr19:37862800-37865800	Weak transcription	NHLF	lung
16	chr19:37862800-37866400	Weak transcription	Spleen	Spleen
17	chr19:37862800-37866600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:37862800-37866600	Weak transcription	HSMMtube	muscle
19	chr19:37862800-37870600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr19:37862800-37871000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:37863000-37865400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr19:37863200-37872000	Weak transcription	Fetal Heart	heart
23	chr19:37863400-37867200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:37863400-37872000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:37863600-37867000	ZNF genes & repeats	Dnd41	blood
26	chr19:37863800-37865400	Weak transcription	Right Ventricle	heart
27	chr19:37863800-37866000	ZNF genes & repeats	GM12878-XiMat	blood
28	chr19:37863800-37867200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:37863800-37868800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr19:37863800-37873200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:37864000-37866600	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr19:37864000-37867000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:37864000-37867000	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr19:37864000-37867200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr19:37864000-37867600	ZNF genes & repeats	Fetal Brain Female	brain
36	chr19:37864000-37869000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:37864000-37869400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr19:37864000-37882000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:37864000-37882000	ZNF genes & repeats	Liver	Liver
40	chr19:37864400-37865400	Strong transcription	Primary T cells from cord blood	blood
41	chr19:37864400-37865400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr19:37864400-37867000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
43	chr19:37864400-37869000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
44	chr19:37864400-37869200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr19:37864400-37880600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:37864400-37880800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
47	chr19:37864600-37865400	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr19:37864600-37865600	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr19:37864600-37866600	ZNF genes & repeats	Left Ventricle	heart
50	chr19:37864600-37866800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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