Variant report

Variant	rs16994664
Chromosome Location	chr19:19219520-19219521
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19119792..19122169-chr19:19218509..19220098,2	K562	blood:
2	chr19:19219259..19221716-chr19:19229175..19232934,3	K562	blood:
3	chr19:19172859..19177096-chr19:19213191..19220004,7	K562	blood:
4	chr19:19170465..19178046-chr19:19213939..19220242,15	K562	blood:
5	chr19:19219259..19220767-chr19:19229175..19232080,2	K562	blood:

Variant related genes	Relation type
ENSG00000181035	Chromatin interaction
ENSG00000064545	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1004079	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10421019	1.00[JPT][hapmap]
rs11729	1.00[JPT][hapmap]
rs16995852	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16995906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808923	1.00[JPT][hapmap]
rs59094007	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8099994	1.00[ASN][1000 genomes]
rs8102294	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats 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	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19180400-19219800	Weak transcription	HSMMtube	muscle
2	chr19:19180600-19245600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr19:19180600-19248400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr19:19185400-19221200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr19:19194600-19229400	Weak transcription	Dnd41	blood
6	chr19:19197400-19222600	Weak transcription	GM12878-XiMat	blood
7	chr19:19203800-19245600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr19:19206600-19229600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr19:19208600-19221400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr19:19209000-19223600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:19209400-19221000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr19:19210200-19230200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr19:19212400-19221000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:19212400-19221400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr19:19212600-19220600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr19:19212600-19221600	Weak transcription	Brain Angular Gyrus	brain
17	chr19:19212600-19229600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:19212600-19240800	Weak transcription	Aorta	Aorta
19	chr19:19212800-19221200	Weak transcription	Gastric	stomach
20	chr19:19214200-19221200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr19:19215400-19220800	Strong transcription	Liver	Liver
22	chr19:19216000-19221000	Weak transcription	Spleen	Spleen
23	chr19:19216600-19223200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:19216800-19219800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:19217000-19220000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr19:19217000-19221000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:19217000-19221200	Weak transcription	Primary B cells from cord blood	blood
28	chr19:19217000-19221200	Weak transcription	Right Ventricle	heart
29	chr19:19217000-19236800	Weak transcription	Hela-S3	cervix
30	chr19:19217200-19219800	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr19:19217200-19220200	Weak transcription	HepG2	liver
32	chr19:19217200-19220600	Weak transcription	A549	lung
33	chr19:19217200-19221000	Weak transcription	Fetal Thymus	thymus
34	chr19:19217200-19221200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:19217200-19221200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr19:19217200-19221400	Weak transcription	Esophagus	oesophagus
37	chr19:19217200-19224000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:19217200-19247800	Weak transcription	Right Atrium	heart
39	chr19:19217400-19220000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:19217400-19220000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:19217400-19220000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:19217400-19220000	Weak transcription	NH-A	brain
43	chr19:19217400-19220200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:19217400-19220400	Weak transcription	Fetal Heart	heart
45	chr19:19217400-19220600	Weak transcription	Fetal Brain Male	brain
46	chr19:19217400-19220600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr19:19217400-19221000	Weak transcription	Brain Germinal Matrix	brain
48	chr19:19217400-19221000	Weak transcription	Fetal Brain Female	brain
49	chr19:19217400-19221200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr19:19217400-19221200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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