Variant report

Variant	rs73008939
Chromosome Location	chr19:19151054-19151055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19143762..19145287-chr19:19149753..19152112,2	K562	blood:
2	chr19:19148470..19151421-chr19:19152094..19154668,2	K562	blood:
3	chr19:19150556..19153646-chr19:19160742..19164221,4	K562	blood:
4	chr19:19142730..19148953-chr19:19149447..19156213,13	K562	blood:
5	chr19:19146038..19148163-chr19:19149447..19151209,2	K562	blood:

Variant related genes	Relation type
ENSG00000105676	Chromatin interaction
ENSG00000064607	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]
rs73008930	1.00[AFR][1000 genomes];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]
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	chr19:19145600-19151400	Weak transcription	Colon Smooth Muscle	Colon
8	chr19:19145600-19151400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr19:19145600-19151600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:19145600-19153200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:19145600-19153400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:19145600-19153400	Weak transcription	Brain Substantia Nigra	brain
13	chr19:19145600-19153400	Weak transcription	Colonic Mucosa	Colon
14	chr19:19145600-19153400	Weak transcription	Gastric	stomach
15	chr19:19145600-19153400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr19:19145600-19153600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr19:19145600-19153600	Weak transcription	Brain Anterior Caudate	brain
18	chr19:19145600-19153600	Weak transcription	Brain Hippocampus Middle	brain
19	chr19:19145600-19153600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr19:19145600-19153600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr19:19145600-19153800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr19:19145600-19154000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr19:19145600-19154600	Weak transcription	HUVEC	blood vessel
24	chr19:19145600-19154600	Weak transcription	NHDF-Ad	bronchial
25	chr19:19145600-19154800	Weak transcription	Brain Angular Gyrus	brain
26	chr19:19145600-19154800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr19:19145600-19159600	Weak transcription	NH-A	brain
28	chr19:19145600-19172200	Weak transcription	Stomach Mucosa	stomach
29	chr19:19145600-19173800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr19:19145600-19173800	Weak transcription	Fetal Kidney	kidney
31	chr19:19145800-19153400	Weak transcription	Spleen	Spleen
32	chr19:19146200-19151600	Weak transcription	Adipose Nuclei	Adipose
33	chr19:19146200-19153600	Weak transcription	Right Ventricle	heart
34	chr19:19146200-19154000	Weak transcription	Left Ventricle	heart
35	chr19:19146400-19151400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr19:19146400-19153400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:19146400-19153600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:19146600-19151600	Weak transcription	Lung	lung
39	chr19:19146600-19161800	Weak transcription	Psoas Muscle	Psoas
40	chr19:19146800-19153400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr19:19147400-19153400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr19:19147600-19151200	Strong transcription	Dnd41	blood
43	chr19:19148400-19161600	Weak transcription	Fetal Heart	heart
44	chr19:19148800-19153400	Weak transcription	Esophagus	oesophagus
45	chr19:19148800-19153400	Weak transcription	Fetal Intestine Large	intestine
46	chr19:19148800-19153400	Weak transcription	Placenta	Placenta
47	chr19:19148800-19153600	Weak transcription	HMEC	breast
48	chr19:19148800-19153800	Weak transcription	NHEK	skin
49	chr19:19149000-19151200	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr19:19149000-19151200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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