Variant report

Variant	rs72993462
Chromosome Location	chr19:19229947-19229948
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19229446..19234006-chr19:19241302..19251526,15	K562	blood:
2	chr19:19229745..19232931-chr19:19245473..19249545,7	K562	blood:
3	chr19:19228835..19230713-chr19:19234651..19236877,2	K562	blood:
4	chr19:19169419..19177029-chr19:19229685..19233171,13	K562	blood:
5	chr19:19215063..19218544-chr19:19229817..19231578,4	K562	blood:
6	chr19:19216749..19218544-chr19:19229927..19231578,2	K562	blood:
7	chr19:19170341..19177029-chr19:19229928..19235464,11	K562	blood:

Variant related genes	Relation type
ENSG00000181035	Chromatin interaction
ENSG00000064545	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10164302	0.84[EUR][1000 genomes]
rs10221450	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10221529	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11549380	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28498174	0.85[EUR][1000 genomes]
rs4808171	0.85[EUR][1000 genomes]
rs4808178	0.85[EUR][1000 genomes]
rs4808180	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4808181	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4808896	0.85[EUR][1000 genomes]
rs4808897	0.85[EUR][1000 genomes]
rs4808899	0.85[EUR][1000 genomes]
rs4808909	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4808910	0.87[EUR][1000 genomes]
rs4808912	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4808914	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4808915	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4808921	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4808922	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55658345	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55678828	0.85[EUR][1000 genomes]
rs56141206	0.85[EUR][1000 genomes]
rs56144126	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56159042	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56227420	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60489867	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60696741	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72993458	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72993497	0.81[EUR][1000 genomes]
rs73004898	0.85[EUR][1000 genomes]
rs73004899	0.85[EUR][1000 genomes]
rs73006907	0.85[EUR][1000 genomes]
rs73006928	0.85[EUR][1000 genomes]
rs73008923	0.85[EUR][1000 genomes]
rs73008928	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73008930	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73008934	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73008939	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73008945	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73008949	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73008958	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73008960	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73010908	0.96[AMR][1000 genomes];0.98[EUR][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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19180600-19245600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr19:19180600-19248400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:19203800-19245600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr19:19210200-19230200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr19:19212600-19240800	Weak transcription	Aorta	Aorta
6	chr19:19217000-19236800	Weak transcription	Hela-S3	cervix
7	chr19:19217200-19247800	Weak transcription	Right Atrium	heart
8	chr19:19219800-19230000	Weak transcription	Brain Substantia Nigra	brain
9	chr19:19220400-19247800	Weak transcription	Psoas Muscle	Psoas
10	chr19:19220800-19242800	Weak transcription	Osteobl	bone
11	chr19:19221400-19230200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr19:19221400-19232600	Weak transcription	HSMMtube	muscle
13	chr19:19221600-19230200	Weak transcription	Right Ventricle	heart
14	chr19:19221800-19230200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr19:19221800-19230400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr19:19221800-19231400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr19:19221800-19235200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr19:19221800-19242800	Weak transcription	Spleen	Spleen
19	chr19:19221800-19243200	Weak transcription	A549	lung
20	chr19:19222000-19230200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr19:19222000-19230400	Weak transcription	Colonic Mucosa	Colon
22	chr19:19222000-19230400	Weak transcription	Ovary	ovary
23	chr19:19222000-19230600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr19:19222000-19240800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr19:19222200-19231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:19222200-19233600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:19222200-19248200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr19:19222400-19230800	Weak transcription	Placenta	Placenta
29	chr19:19223200-19233400	Weak transcription	GM12878-XiMat	blood
30	chr19:19223400-19230200	Weak transcription	Primary T cells from cord blood	blood
31	chr19:19224000-19233600	Weak transcription	Fetal Lung	lung
32	chr19:19224200-19231600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr19:19224400-19230400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr19:19224400-19233800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:19224400-19233800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr19:19224400-19234000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:19225800-19230200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr19:19226200-19230800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr19:19226600-19231800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr19:19226800-19230200	Strong transcription	Fetal Stomach	stomach
41	chr19:19226800-19233000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:19226800-19242600	Weak transcription	HepG2	liver
43	chr19:19227000-19230600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:19227000-19239800	Weak transcription	Fetal Kidney	kidney
45	chr19:19227800-19230400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:19228000-19232600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:19228400-19230000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr19:19229200-19230800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr19:19229200-19232600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr19:19229200-19232800	Strong transcription	Skeletal Muscle Female	skeletal muscle

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