Variant report

Variant	rs851611
Chromosome Location	chr19:42805035-42805036
allele	C/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42754290..42756701-chr19:42804402..42806386,2	K562	blood:
2	chr19:42771398..42774307-chr19:42804493..42807877,4	MCF-7	breast:
3	chr19:42804082..42810862-chr19:42813351..42818872,10	K562	blood:
4	chr19:42756858..42760226-chr19:42804706..42807905,7	K562	blood:
5	chr19:42756858..42762075-chr19:42803237..42807691,9	K562	blood:
6	chr19:42786948..42794333-chr19:42803465..42809501,23	K562	blood:
7	chr19:42787763..42791073-chr19:42804241..42808628,6	MCF-7	breast:
8	chr19:42804822..42808346-chr19:42815036..42819132,8	MCF-7	breast:
9	chr19:42745110..42750037-chr19:42804255..42809210,7	MCF-7	breast:
10	chr19:42804664..42808164-chr19:42828676..42831528,3	MCF-7	breast:
11	chr19:42783298..42787362-chr19:42802681..42808039,8	MCF-7	breast:
12	chr19:42804981..42810862-chr19:42813585..42819261,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000079432	Chromatin interaction
ENSG00000105429	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000105723	Chromatin interaction
ENSG00000268643	Chromatin interaction
ENSG00000204957	Chromatin interaction
ENSG00000167619	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1206030	0.83[AFR][1000 genomes]
rs1206036	0.82[AFR][1000 genomes]
rs1206037	0.85[AFR][1000 genomes]
rs1654624	0.83[AFR][1000 genomes]
rs1685564	0.91[AFR][1000 genomes]
rs1685566	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2615615	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs851291	0.81[AFR][1000 genomes]
rs851295	0.83[AFR][1000 genomes]
rs851614	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
5	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
6	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
7	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
8	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42790600-42805400	Weak transcription	Stomach Mucosa	stomach
2	chr19:42790600-42806000	Weak transcription	Psoas Muscle	Psoas
3	chr19:42791200-42805800	Weak transcription	Fetal Heart	heart
4	chr19:42791200-42806000	Weak transcription	Right Atrium	heart
5	chr19:42792800-42806000	Weak transcription	HSMM	muscle
6	chr19:42794400-42805600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:42794400-42805800	Weak transcription	NHDF-Ad	bronchial
8	chr19:42796000-42805600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:42796600-42805600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr19:42796600-42805600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr19:42798400-42805400	Weak transcription	HepG2	liver
12	chr19:42798600-42806200	Weak transcription	Small Intestine	intestine
13	chr19:42799000-42805200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:42799000-42805400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:42799000-42805400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr19:42799000-42805400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr19:42799000-42805800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr19:42799000-42806000	Weak transcription	Aorta	Aorta
19	chr19:42799000-42806000	Weak transcription	Left Ventricle	heart
20	chr19:42799200-42805400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr19:42799200-42805600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr19:42799200-42805600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr19:42799400-42805600	Weak transcription	Primary T cells from cord blood	blood
24	chr19:42799400-42806000	Weak transcription	Ovary	ovary
25	chr19:42799600-42805400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr19:42799600-42805800	Weak transcription	Colonic Mucosa	Colon
27	chr19:42799600-42805800	Weak transcription	Right Ventricle	heart
28	chr19:42799600-42806000	Weak transcription	HSMMtube	muscle
29	chr19:42800000-42805600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr19:42800000-42805600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr19:42800200-42805800	Weak transcription	Primary B cells from cord blood	blood
32	chr19:42800200-42806000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr19:42800400-42806000	Weak transcription	Colon Smooth Muscle	Colon
34	chr19:42800600-42805400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr19:42800600-42805400	Weak transcription	Adipose Nuclei	Adipose
36	chr19:42800600-42805600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:42800600-42805600	Weak transcription	Brain Angular Gyrus	brain
38	chr19:42800600-42805600	Weak transcription	Brain Hippocampus Middle	brain
39	chr19:42800600-42805600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr19:42800600-42805800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:42800600-42805800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr19:42800600-42805800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr19:42800600-42805800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr19:42800600-42806000	Weak transcription	Brain Substantia Nigra	brain
45	chr19:42800600-42806000	Weak transcription	Gastric	stomach
46	chr19:42800600-42806200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr19:42800800-42805600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr19:42800800-42805600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr19:42800800-42805800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr19:42800800-42805800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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