Variant report

Variant	rs73008930
Chromosome Location	chr19:19149097-19149098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19147736..19150233-chr19:19170434..19173422,2	K562	blood:
2	chr19:19148470..19151421-chr19:19152094..19154668,2	K562	blood:
3	chr19:19148387..19150920-chr19:19203551..19206895,3	K562	blood:
4	chr19:19148010..19150242-chr19:19312371..19314078,2	K562	blood:
5	chr19:19133809..19135508-chr19:19148686..19150405,2	K562	blood:

Variant related genes	Relation type
ENSG00000184162	Chromatin interaction
ENSG00000181035	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10164302	0.98[EUR][1000 genomes]
rs10221450	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10221529	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11549380	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28498174	1.00[EUR][1000 genomes]
rs4808171	1.00[EUR][1000 genomes]
rs4808178	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808180	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4808181	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4808896	1.00[EUR][1000 genomes]
rs4808897	1.00[EUR][1000 genomes]
rs4808899	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808909	0.95[EUR][1000 genomes]
rs4808910	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4808912	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4808914	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4808915	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4808921	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4808922	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs55658345	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55678828	1.00[EUR][1000 genomes]
rs56141206	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56144126	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56159042	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs56227420	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60489867	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60696741	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72993458	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72993462	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73004898	1.00[EUR][1000 genomes]
rs73004899	1.00[EUR][1000 genomes]
rs73006907	1.00[EUR][1000 genomes]
rs73006928	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008923	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73008939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008945	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008949	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008958	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008960	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73010908	0.85[AMR][1000 genomes];0.87[EUR][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	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	nsv543927	chr19:19147376-19178024	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 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	chr19:19145000-19154800	Weak transcription	Aorta	Aorta
2	chr19:19145000-19174000	Weak transcription	Small Intestine	intestine
3	chr19:19145200-19153600	Weak transcription	Ovary	ovary
4	chr19:19145400-19153400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:19145400-19165600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:19145400-19171800	Weak transcription	Right Atrium	heart
7	chr19:19145600-19149800	Weak transcription	Osteobl	bone
8	chr19:19145600-19150000	Weak transcription	NHLF	lung
9	chr19:19145600-19150200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:19145600-19150200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr19:19145600-19150200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr19:19145600-19150600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr19:19145600-19151000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:19145600-19151400	Weak transcription	Colon Smooth Muscle	Colon
15	chr19:19145600-19151400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr19:19145600-19151600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:19145600-19153200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr19:19145600-19153400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:19145600-19153400	Weak transcription	Brain Substantia Nigra	brain
20	chr19:19145600-19153400	Weak transcription	Colonic Mucosa	Colon
21	chr19:19145600-19153400	Weak transcription	Gastric	stomach
22	chr19:19145600-19153400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr19:19145600-19153600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr19:19145600-19153600	Weak transcription	Brain Anterior Caudate	brain
25	chr19:19145600-19153600	Weak transcription	Brain Hippocampus Middle	brain
26	chr19:19145600-19153600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr19:19145600-19153600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr19:19145600-19153800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:19145600-19154000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:19145600-19154600	Weak transcription	HUVEC	blood vessel
31	chr19:19145600-19154600	Weak transcription	NHDF-Ad	bronchial
32	chr19:19145600-19154800	Weak transcription	Brain Angular Gyrus	brain
33	chr19:19145600-19154800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr19:19145600-19159600	Weak transcription	NH-A	brain
35	chr19:19145600-19172200	Weak transcription	Stomach Mucosa	stomach
36	chr19:19145600-19173800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr19:19145600-19173800	Weak transcription	Fetal Kidney	kidney
38	chr19:19145800-19149600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:19145800-19150000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr19:19145800-19150200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr19:19145800-19150200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr19:19145800-19153400	Weak transcription	Spleen	Spleen
43	chr19:19146200-19149800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr19:19146200-19150200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr19:19146200-19150400	Strong transcription	Fetal Stomach	stomach
46	chr19:19146200-19151600	Weak transcription	Adipose Nuclei	Adipose
47	chr19:19146200-19153600	Weak transcription	Right Ventricle	heart
48	chr19:19146200-19154000	Weak transcription	Left Ventricle	heart
49	chr19:19146400-19150200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr19:19146400-19150200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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