Variant report

Variant	rs73041292
Chromosome Location	chr19:38816952-38816953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38815734..38818245-chr19:38825001..38828035,3	K562	blood:
2	chr19:38810442..38812628-chr19:38816894..38818676,3	K562	blood:
3	chr19:38759354..38761774-chr19:38815692..38818427,2	K562	blood:
4	chr19:38815734..38817911-chr19:38825001..38827555,2	K562	blood:

Variant related genes	Relation type
ENSG00000099337	Chromatin interaction
ENSG00000099338	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs3885340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61734615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73037321	1.00[EUR][1000 genomes]
rs73037333	0.97[EUR][1000 genomes]
rs73037343	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73037346	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73043012	0.87[EUR][1000 genomes]
rs73043013	0.87[EUR][1000 genomes]
rs73043014	0.87[EUR][1000 genomes]
rs73043015	0.87[EUR][1000 genomes]
rs73043019	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73043021	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73043022	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73043027	0.87[EUR][1000 genomes]
rs73043028	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73043029	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73043030	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73043033	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73043098	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv960928	chr19:38790012-38822380	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38811200-38817600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:38811200-38817600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:38811200-38826200	Weak transcription	Brain Anterior Caudate	brain
4	chr19:38811200-38826600	Weak transcription	Brain Substantia Nigra	brain
5	chr19:38811400-38817200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:38811400-38825600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr19:38811600-38819800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr19:38811800-38817400	Weak transcription	Small Intestine	intestine
9	chr19:38811800-38823000	Weak transcription	Brain Angular Gyrus	brain
10	chr19:38812000-38817400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:38812000-38826000	Weak transcription	Fetal Thymus	thymus
12	chr19:38812000-38826600	Weak transcription	HUVEC	blood vessel
13	chr19:38812200-38817800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:38812200-38823800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr19:38812200-38826400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:38812200-38826600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:38812400-38817200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr19:38812400-38817400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:38812400-38817400	Weak transcription	Liver	Liver
20	chr19:38812400-38817600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:38812400-38817600	Weak transcription	Left Ventricle	heart
22	chr19:38812400-38826400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr19:38812400-38826400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr19:38812400-38826400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr19:38812600-38817200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr19:38812600-38817200	Weak transcription	Thymus	Thymus
27	chr19:38812600-38817400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:38812600-38817600	Weak transcription	Brain Hippocampus Middle	brain
29	chr19:38812600-38817600	Weak transcription	Fetal Muscle Leg	muscle
30	chr19:38812600-38818200	Weak transcription	HSMM	muscle
31	chr19:38812600-38826200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:38812800-38817200	Weak transcription	Pancreas	Pancrea
33	chr19:38812800-38817400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr19:38813000-38818000	Weak transcription	Fetal Lung	lung
35	chr19:38813000-38818200	Weak transcription	HSMMtube	muscle
36	chr19:38813000-38826000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:38813000-38826400	Weak transcription	Stomach Mucosa	stomach
38	chr19:38813200-38817200	Weak transcription	Right Ventricle	heart
39	chr19:38813200-38826800	Weak transcription	Fetal Heart	heart
40	chr19:38813400-38826000	Weak transcription	Fetal Intestine Large	intestine
41	chr19:38813800-38819200	Strong transcription	Primary T cells from cord blood	blood
42	chr19:38814000-38819400	Strong transcription	Fetal Stomach	stomach
43	chr19:38814000-38819600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr19:38814000-38820600	Strong transcription	Aorta	Aorta
45	chr19:38814000-38826400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr19:38814200-38817600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr19:38814200-38818800	Weak transcription	K562	blood
48	chr19:38814200-38820600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr19:38814200-38826400	Weak transcription	Right Atrium	heart
50	chr19:38814400-38817200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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