Variant report

Variant	rs4808922
Chromosome Location	chr19:19223475-19223476
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19221369..19226288-chr19:19228208..19232737,8	K562	blood:
2	chr19:19222581..19226288-chr19:19228821..19231997,5	K562	blood:
3	chr19:18994511..18995383-chr19:19223392..19223923,2	K562	blood:
4	chr19:19160117..19161662-chr19:19222753..19224886,2	K562	blood:
5	chr19:19199234..19201817-chr19:19222727..19224858,2	K562	blood:
6	chr19:19222347..19224827-chr19:19224890..19227152,2	K562	blood:
7	chr19:19191060..19192627-chr19:19221206..19223670,2	K562	blood:
8	chr19:19221106..19223983-chr19:19247665..19249535,2	MCF-7	breast:
9	chr19:19142860..19145143-chr19:19222404..19224133,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000064607	Chromatin interaction
ENSG00000105676	Chromatin interaction
ENSG00000223802	Chromatin interaction
ENSG00000064545	Chromatin interaction

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	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10221529	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11549380	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28498174	0.87[EUR][1000 genomes]
rs4808171	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs4808178	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4808180	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808181	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808896	0.87[EUR][1000 genomes]
rs4808897	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs4808899	0.87[EUR][1000 genomes]
rs4808909	0.83[EUR][1000 genomes]
rs4808910	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4808912	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808914	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808915	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808921	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55658345	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55678828	0.87[EUR][1000 genomes]
rs56141206	0.87[EUR][1000 genomes]
rs56144126	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56159042	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56227420	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60489867	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60696741	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72993458	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993462	0.89[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	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73008928	0.87[EUR][1000 genomes]
rs73008930	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73008934	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73008939	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73008945	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73008949	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73008958	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73008960	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73010908	0.93[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:93 , 50 per page) page: 1 2

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	chr19:19194600-19229400	Weak transcription	Dnd41	blood
4	chr19:19203800-19245600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr19:19206600-19229600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr19:19209000-19223600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:19210200-19230200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:19212600-19229600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:19212600-19240800	Weak transcription	Aorta	Aorta
10	chr19:19217000-19236800	Weak transcription	Hela-S3	cervix
11	chr19:19217200-19224000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:19217200-19247800	Weak transcription	Right Atrium	heart
13	chr19:19217400-19224000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr19:19217400-19229400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr19:19217400-19229600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr19:19217400-19229600	Weak transcription	NHLF	lung
17	chr19:19219000-19223600	Weak transcription	K562	blood
18	chr19:19219200-19229400	Weak transcription	Pancreas	Pancrea
19	chr19:19219400-19229400	Weak transcription	Lung	lung
20	chr19:19219400-19229600	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:19219400-19229600	Weak transcription	Left Ventricle	heart
22	chr19:19219800-19229400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:19219800-19230000	Weak transcription	Brain Substantia Nigra	brain
24	chr19:19220200-19224800	Enhancers	Fetal Muscle Leg	muscle
25	chr19:19220400-19247800	Weak transcription	Psoas Muscle	Psoas
26	chr19:19220800-19223800	Weak transcription	HepG2	liver
27	chr19:19220800-19223800	Weak transcription	HSMM	muscle
28	chr19:19220800-19242800	Weak transcription	Osteobl	bone
29	chr19:19221000-19224200	Enhancers	Primary B cells from peripheral blood	blood
30	chr19:19221200-19224000	Enhancers	Fetal Lung	lung
31	chr19:19221400-19230200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr19:19221400-19232600	Weak transcription	HSMMtube	muscle
33	chr19:19221600-19223800	Enhancers	Liver	Liver
34	chr19:19221600-19229600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr19:19221600-19229600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:19221600-19230200	Weak transcription	Right Ventricle	heart
37	chr19:19221800-19223800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr19:19221800-19223800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:19221800-19224000	Weak transcription	NH-A	brain
40	chr19:19221800-19229200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr19:19221800-19229400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr19:19221800-19229600	Weak transcription	Brain Angular Gyrus	brain
43	chr19:19221800-19229600	Weak transcription	Esophagus	oesophagus
44	chr19:19221800-19230200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr19:19221800-19230400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr19:19221800-19231400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr19:19221800-19235200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr19:19221800-19242800	Weak transcription	Spleen	Spleen
49	chr19:19221800-19243200	Weak transcription	A549	lung
50	chr19:19222000-19223800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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