Variant report

Variant	rs72993458
Chromosome Location	chr19:19229413-19229414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19228835..19230713-chr19:19234651..19236877,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10164302	0.85[EUR][1000 genomes]
rs10221450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10221529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11549380	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28498174	0.87[EUR][1000 genomes]
rs4808171	0.87[EUR][1000 genomes]
rs4808178	0.87[EUR][1000 genomes]
rs4808180	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808896	0.87[EUR][1000 genomes]
rs4808897	0.87[EUR][1000 genomes]
rs4808899	0.87[EUR][1000 genomes]
rs4808909	0.83[EUR][1000 genomes]
rs4808910	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4808912	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808914	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808915	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808922	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55658345	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55678828	0.87[EUR][1000 genomes]
rs56141206	0.87[EUR][1000 genomes]
rs56144126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56159042	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56227420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60489867	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60696741	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72993462	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73004898	0.87[EUR][1000 genomes]
rs73004899	0.87[EUR][1000 genomes]
rs73006907	0.87[EUR][1000 genomes]
rs73006928	0.87[EUR][1000 genomes]
rs73008923	0.87[EUR][1000 genomes]
rs73008928	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73008930	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73008934	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73008939	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73008945	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73008949	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73008958	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73008960	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73010908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	chr19:19206600-19229600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:19210200-19230200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:19212600-19229600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr19:19212600-19240800	Weak transcription	Aorta	Aorta
8	chr19:19217000-19236800	Weak transcription	Hela-S3	cervix
9	chr19:19217200-19247800	Weak transcription	Right Atrium	heart
10	chr19:19217400-19229600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:19217400-19229600	Weak transcription	NHLF	lung
12	chr19:19219400-19229600	Weak transcription	Brain Hippocampus Middle	brain
13	chr19:19219400-19229600	Weak transcription	Left Ventricle	heart
14	chr19:19219800-19230000	Weak transcription	Brain Substantia Nigra	brain
15	chr19:19220400-19247800	Weak transcription	Psoas Muscle	Psoas
16	chr19:19220800-19242800	Weak transcription	Osteobl	bone
17	chr19:19221400-19230200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr19:19221400-19232600	Weak transcription	HSMMtube	muscle
19	chr19:19221600-19229600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr19:19221600-19229600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr19:19221600-19230200	Weak transcription	Right Ventricle	heart
22	chr19:19221800-19229600	Weak transcription	Brain Angular Gyrus	brain
23	chr19:19221800-19229600	Weak transcription	Esophagus	oesophagus
24	chr19:19221800-19230200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr19:19221800-19230400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr19:19221800-19231400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr19:19221800-19235200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr19:19221800-19242800	Weak transcription	Spleen	Spleen
29	chr19:19221800-19243200	Weak transcription	A549	lung
30	chr19:19222000-19229600	Weak transcription	Brain Anterior Caudate	brain
31	chr19:19222000-19229600	Weak transcription	Fetal Intestine Large	intestine
32	chr19:19222000-19230200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr19:19222000-19230400	Weak transcription	Colonic Mucosa	Colon
34	chr19:19222000-19230400	Weak transcription	Ovary	ovary
35	chr19:19222000-19230600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr19:19222000-19240800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr19:19222200-19231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr19:19222200-19233600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr19:19222200-19248200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr19:19222400-19229600	Weak transcription	Brain Germinal Matrix	brain
41	chr19:19222400-19229600	Weak transcription	Gastric	stomach
42	chr19:19222400-19230800	Weak transcription	Placenta	Placenta
43	chr19:19222600-19229600	Weak transcription	Thymus	Thymus
44	chr19:19222800-19229600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr19:19223200-19233400	Weak transcription	GM12878-XiMat	blood
46	chr19:19223400-19229600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:19223400-19230200	Weak transcription	Primary T cells from cord blood	blood
48	chr19:19224000-19233600	Weak transcription	Fetal Lung	lung
49	chr19:19224200-19229600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr19:19224200-19231600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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