Variant report

Variant	rs57874113
Chromosome Location	chr19:38815945-38815946
allele	C/T
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	chr19:38794304..38796174-chr19:38815095..38816804,2	MCF-7	breast:
3	chr19:38759354..38761774-chr19:38815692..38818427,2	K562	blood:
4	chr19:38815734..38817911-chr19:38825001..38827555,2	K562	blood:
5	chr19:38805262..38808383-chr19:38813120..38816114,3	K562	blood:

Variant related genes	Relation type
ENSG00000167644	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000167645	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs57249964	0.86[AFR][1000 genomes]
rs57347571	0.86[AFR][1000 genomes]
rs58490212	1.00[AFR][1000 genomes]
rs61648033	0.86[AFR][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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38811200-38816800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:38811200-38817600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:38811200-38817600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr19:38811200-38826200	Weak transcription	Brain Anterior Caudate	brain
5	chr19:38811200-38826600	Weak transcription	Brain Substantia Nigra	brain
6	chr19:38811400-38817200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:38811400-38825600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr19:38811600-38819800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:38811800-38817400	Weak transcription	Small Intestine	intestine
10	chr19:38811800-38823000	Weak transcription	Brain Angular Gyrus	brain
11	chr19:38812000-38817400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:38812000-38826000	Weak transcription	Fetal Thymus	thymus
13	chr19:38812000-38826600	Weak transcription	HUVEC	blood vessel
14	chr19:38812200-38816200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr19:38812200-38816200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr19:38812200-38816800	Weak transcription	Primary B cells from cord blood	blood
17	chr19:38812200-38817800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr19:38812200-38823800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr19:38812200-38826400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr19:38812200-38826600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:38812400-38816000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr19:38812400-38816200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:38812400-38817200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr19:38812400-38817400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:38812400-38817400	Weak transcription	Liver	Liver
26	chr19:38812400-38817600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:38812400-38817600	Weak transcription	Left Ventricle	heart
28	chr19:38812400-38826400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr19:38812400-38826400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr19:38812400-38826400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr19:38812600-38816000	Weak transcription	Colonic Mucosa	Colon
32	chr19:38812600-38816400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr19:38812600-38817200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr19:38812600-38817200	Weak transcription	Thymus	Thymus
35	chr19:38812600-38817400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr19:38812600-38817600	Weak transcription	Brain Hippocampus Middle	brain
37	chr19:38812600-38817600	Weak transcription	Fetal Muscle Leg	muscle
38	chr19:38812600-38818200	Weak transcription	HSMM	muscle
39	chr19:38812600-38826200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:38812800-38816000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr19:38812800-38816000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr19:38812800-38817200	Weak transcription	Pancreas	Pancrea
43	chr19:38812800-38817400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr19:38813000-38816200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr19:38813000-38816800	Weak transcription	NHLF	lung
46	chr19:38813000-38818000	Weak transcription	Fetal Lung	lung
47	chr19:38813000-38818200	Weak transcription	HSMMtube	muscle
48	chr19:38813000-38826000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:38813000-38826400	Weak transcription	Stomach Mucosa	stomach
50	chr19:38813200-38817200	Weak transcription	Right Ventricle	heart

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