Variant report

Variant	rs61347180
Chromosome Location	chr19:40521697-40521698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr19:40519569-40522135	U2OS	brain:	n/a	n/a
2	POLR2A	chr19:40519945-40522295	K562	blood:	n/a	n/a
3	TCF12	chr19:40519604-40521857	A549	lung:	n/a	n/a
4	KAP1	chr19:40519761-40521770	HEK293	kidney:	n/a	n/a
5	ZNF274	chr19:40519220-40521810	K562	blood:	n/a	n/a
6	POLR2A	chr19:40517320-40525363	PANC-1	pancreas:	n/a	n/a
7	GATA3	chr19:40519564-40522205	A549	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40514284..40516940-chr19:40519055..40521737,2	K562	blood:
2	chr19:40520246..40523221-chr19:40527503..40530294,2	K562	blood:
3	chr19:40520341..40522642-chr19:40525632..40527204,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF780B-1	chr19:40521102-40522954	NONHSAT066336

No data

Variant related genes	Relation type
ENSG00000268166	TF binding region
ENSG00000268166	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1854099	0.84[AFR][1000 genomes]
rs58000341	0.94[AFR][1000 genomes]
rs60365201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73545960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73545976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73547687	0.94[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40504000-40533800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:40511600-40522000	ZNF genes & repeats	A549	lung
3	chr19:40512000-40527200	ZNF genes & repeats	Liver	Liver
4	chr19:40513400-40521800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:40513600-40522200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:40514000-40523000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:40515600-40522200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr19:40517400-40522800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:40517600-40521800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
10	chr19:40517600-40521800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:40517600-40522200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:40517600-40522200	ZNF genes & repeats	Primary T cells from cord blood	blood
13	chr19:40517600-40522200	ZNF genes & repeats	Fetal Lung	lung
14	chr19:40517600-40522400	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr19:40517600-40522400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr19:40517800-40522000	ZNF genes & repeats	Primary B cells from cord blood	blood
17	chr19:40518200-40521800	Weak transcription	Placenta	Placenta
18	chr19:40519000-40521800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
19	chr19:40519200-40521800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:40519200-40521800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
21	chr19:40519200-40522000	ZNF genes & repeats	Brain Anterior Caudate	brain
22	chr19:40519200-40522200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
23	chr19:40519200-40522400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
24	chr19:40519200-40522400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
25	chr19:40519400-40521800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
26	chr19:40519400-40521800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
27	chr19:40519400-40522000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:40519400-40522000	ZNF genes & repeats	Osteobl	bone
29	chr19:40519400-40522200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr19:40519600-40521800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr19:40519600-40521800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
32	chr19:40519600-40522000	ZNF genes & repeats	Dnd41	blood
33	chr19:40519600-40522200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr19:40519600-40522400	ZNF genes & repeats	Left Ventricle	heart
35	chr19:40519800-40522200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:40519800-40522400	ZNF genes & repeats	Aorta	Aorta
37	chr19:40520000-40522000	ZNF genes & repeats	Brain Germinal Matrix	brain
38	chr19:40520600-40522000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr19:40520800-40521800	Weak transcription	Fetal Thymus	thymus
40	chr19:40521000-40522200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:40521200-40540800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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