Variant report

Variant	rs16996031
Chromosome Location	chr19:19421218-19421219
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19420749..19424212-chr19:19429793..19432156,5	K562	blood:
2	chr19:19411942..19414744-chr19:19417979..19422177,3	K562	blood:
3	chr19:19419277..19422249-chr19:19429759..19432158,3	K562	blood:
4	chr19:19420567..19423413-chr19:19425722..19427431,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129933	Chromatin interaction
ENSG00000105705	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10402729	0.87[AMR][1000 genomes]
rs10402799	0.96[AFR][1000 genomes]
rs10403737	0.89[YRI][hapmap]
rs10405475	0.84[YRI][hapmap]
rs10408216	0.98[AFR][1000 genomes]
rs10413309	0.96[AFR][1000 genomes]
rs10413995	0.87[AMR][1000 genomes]
rs10414990	0.87[AMR][1000 genomes]
rs10416335	1.00[ASW][hapmap];0.83[MKK][hapmap];0.84[YRI][hapmap]
rs10416520	0.87[AMR][1000 genomes]
rs10417330	0.87[AMR][1000 genomes]
rs10417715	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes]
rs10422331	0.86[AFR][1000 genomes]
rs10422522	0.81[AFR][1000 genomes]
rs10422620	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10423535	0.89[YRI][hapmap]
rs10423747	1.00[AFR][1000 genomes]
rs10425084	1.00[MKK][hapmap];0.87[AMR][1000 genomes]
rs12327663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13344498	0.87[AMR][1000 genomes]
rs16996042	0.89[ASW][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs16996102	0.89[YRI][hapmap]
rs2106699	0.87[AFR][1000 genomes]
rs2315280	0.86[AFR][1000 genomes]
rs28437425	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28857503	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55877107	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56304704	0.96[AFR][1000 genomes]
rs56317107	0.96[AFR][1000 genomes]
rs57002012	0.87[AMR][1000 genomes]
rs58409825	0.87[AMR][1000 genomes]
rs60860168	0.96[AFR][1000 genomes]
rs73922864	0.96[AFR][1000 genomes]
rs73922870	0.96[AFR][1000 genomes]
rs8110508	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19384400-19430600	Weak transcription	Right Atrium	heart
2	chr19:19385400-19428400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:19386800-19428400	Strong transcription	Fetal Intestine Small	intestine
4	chr19:19388000-19429000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:19390800-19430000	Weak transcription	Psoas Muscle	Psoas
6	chr19:19398000-19426800	Weak transcription	K562	blood
7	chr19:19402400-19427600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:19402400-19427800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr19:19402600-19427400	Strong transcription	Lung	lung
10	chr19:19402800-19427600	Strong transcription	Fetal Intestine Large	intestine
11	chr19:19402800-19428600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:19403000-19427800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr19:19403200-19421600	Strong transcription	Brain Germinal Matrix	brain
14	chr19:19403400-19423400	Strong transcription	Brain Hippocampus Middle	brain
15	chr19:19403400-19427800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:19403400-19428600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr19:19403600-19421800	Strong transcription	Adipose Nuclei	Adipose
18	chr19:19403800-19428200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr19:19404000-19427600	Strong transcription	Fetal Muscle Leg	muscle
20	chr19:19404200-19427400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:19404200-19429000	Strong transcription	Fetal Stomach	stomach
22	chr19:19404600-19427600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr19:19404600-19427600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:19404800-19428600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:19405000-19427800	Strong transcription	Thymus	Thymus
26	chr19:19406200-19425200	Weak transcription	HSMM	muscle
27	chr19:19407000-19428200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:19408200-19428400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:19410800-19428400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr19:19410800-19428600	Strong transcription	Fetal Thymus	thymus
31	chr19:19411000-19421400	Strong transcription	Ovary	ovary
32	chr19:19411000-19421400	Strong transcription	Placenta Amnion	Placenta Amnion
33	chr19:19411000-19422600	Strong transcription	Placenta	Placenta
34	chr19:19411000-19427200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:19411000-19427800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr19:19411000-19428200	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr19:19411200-19421600	Strong transcription	NHLF	lung
38	chr19:19411200-19421800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr19:19411200-19421800	Strong transcription	Esophagus	oesophagus
40	chr19:19411200-19423400	Strong transcription	Dnd41	blood
41	chr19:19411200-19423600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr19:19411200-19427400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr19:19411200-19427400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:19411200-19427400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr19:19411200-19427400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr19:19411200-19427400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:19411200-19427400	Strong transcription	Liver	Liver
48	chr19:19411200-19427600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr19:19411200-19427600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr19:19411200-19427600	Strong transcription	Primary T cells from cord blood	blood

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