Variant report

Variant	rs56138004
Chromosome Location	chr19:35785147-35785148
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:35759335..35760940-chr19:35784141..35785993,2	K562	blood:
2	chr19:35775470..35777616-chr19:35783839..35785786,2	K562	blood:
3	chr19:35783695..35786395-chr19:35798679..35800837,2	K562	blood:

Variant related genes	Relation type
ENSG00000105698	Chromatin interaction
ENSG00000105695	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs35760221	0.95[EUR][1000 genomes]
rs55899935	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71352915	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	esv1836312	chr19:35741456-35786868	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
9	nsv833810	chr19:35782588-35971959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35774800-35809600	Weak transcription	Right Atrium	heart
2	chr19:35776200-35786400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr19:35781800-35785200	Active TSS	Brain Cingulate Gyrus	brain
4	chr19:35782200-35785200	Active TSS	Brain Anterior Caudate	brain
5	chr19:35782200-35785400	Active TSS	Brain Angular Gyrus	brain
6	chr19:35783800-35785200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr19:35783800-35785400	Bivalent Enhancer	Fetal Stomach	stomach
8	chr19:35783800-35785800	Weak transcription	Primary B cells from cord blood	blood
9	chr19:35784000-35785400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr19:35784000-35785400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr19:35784000-35785400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:35784000-35785400	Enhancers	Spleen	Spleen
13	chr19:35784000-35786400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr19:35784000-35790200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:35784200-35785200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:35784200-35785200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:35784200-35785200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr19:35784200-35785200	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr19:35784200-35785200	Bivalent Enhancer	HSMMtube	muscle
20	chr19:35784200-35785400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:35784400-35785600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:35784400-35785600	Enhancers	K562	blood
23	chr19:35784400-35786400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:35784400-35787000	Enhancers	Fetal Lung	lung
25	chr19:35784600-35785200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:35784600-35785200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:35784600-35785800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr19:35784800-35785200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr19:35784800-35785200	Bivalent Enhancer	HepG2	liver
30	chr19:35784800-35785400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr19:35784800-35789600	Enhancers	Primary hematopoietic stem cells	blood
32	chr19:35785000-35785200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr19:35785000-35785400	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr19:35785000-35785600	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr19:35785000-35786000	Weak transcription	Placenta Amnion	Placenta Amnion

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