Variant report

Variant	rs73559683
Chromosome Location	chr19:40965330-40965331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr19:40965034-40965349	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40948471..40952327-chr19:40962723..40965926,3	K562	blood:
2	chr19:40948471..40950992-chr19:40962723..40965462,2	K562	blood:
3	chr19:40962431..40968148-chr19:40968863..40972815,11	K562	blood:

Variant related genes	Relation type
BLVRB	TF binding region
ENSG00000167565	Chromatin interaction
ENSG00000090013	Chromatin interaction
ENSG00000268366	Chromatin interaction
ENSG00000160460	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11878466	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28529139	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56307925	1.00[EUR][1000 genomes]
rs7256097	0.90[AMR][1000 genomes];1.00[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	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
5	nsv911709	chr19:40928944-41060616	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	nsv911710	chr19:40954062-40978869	Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv911711	chr19:40954062-40985003	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv911712	chr19:40957734-40978869	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv911713	chr19:40957734-40981198	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40951000-40970200	Weak transcription	Small Intestine	intestine
2	chr19:40951000-40970400	Weak transcription	Fetal Heart	heart
3	chr19:40951000-40970600	Weak transcription	Psoas Muscle	Psoas
4	chr19:40951000-40971200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr19:40951200-40967000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr19:40951200-40969000	Weak transcription	NHDF-Ad	bronchial
7	chr19:40951200-40969800	Weak transcription	Right Atrium	heart
8	chr19:40951200-40970400	Weak transcription	Brain Angular Gyrus	brain
9	chr19:40951200-40970400	Weak transcription	Brain Substantia Nigra	brain
10	chr19:40951200-40970400	Weak transcription	HSMMtube	muscle
11	chr19:40951200-40970400	Weak transcription	NH-A	brain
12	chr19:40951200-40970600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:40951200-40970600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr19:40951600-40967000	Strong transcription	Fetal Intestine Small	intestine
15	chr19:40952000-40969000	Weak transcription	Osteobl	bone
16	chr19:40952000-40970000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr19:40952000-40970400	Weak transcription	NHLF	lung
18	chr19:40952200-40970800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:40952400-40970600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:40952400-40970600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:40952600-40965400	Strong transcription	Liver	Liver
22	chr19:40952600-40967000	Weak transcription	Stomach Mucosa	stomach
23	chr19:40952600-40970600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr19:40954200-40969000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:40954200-40970400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:40954400-40967800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:40954400-40969800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:40954400-40970400	Weak transcription	Brain Hippocampus Middle	brain
29	chr19:40954400-40970400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:40954800-40970200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr19:40954800-40970400	Weak transcription	Aorta	Aorta
32	chr19:40954800-40970400	Weak transcription	Brain Anterior Caudate	brain
33	chr19:40955000-40970600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr19:40955200-40970400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:40957000-40970600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr19:40957400-40970400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr19:40957400-40970400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr19:40957400-40970400	Weak transcription	Fetal Lung	lung
39	chr19:40960200-40969000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:40961600-40970200	Weak transcription	Fetal Muscle Leg	muscle
41	chr19:40961800-40967600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:40961800-40967800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr19:40962600-40965600	Strong transcription	A549	lung
44	chr19:40963400-40969000	Weak transcription	NHEK	skin
45	chr19:40963600-40970400	Weak transcription	Colon Smooth Muscle	Colon
46	chr19:40964000-40966600	Weak transcription	K562	blood
47	chr19:40964000-40967200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr19:40964000-40969000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr19:40964000-40969000	Weak transcription	Hela-S3	cervix
50	chr19:40964000-40970200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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