Variant report

Variant	rs73933270
Chromosome Location	chr19:40870991-40870992
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:40870979-40871034	GM12878	blood:	n/a	n/a
2	RFX5	chr19:40870879-40873177	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40870911..40872668-chr19:40875500..40877500,2	MCF-7	breast:
2	chr19:40858935..40867508-chr19:40870167..40875772,11	K562	blood:
3	chr19:40853192..40856646-chr19:40870044..40873206,4	K562	blood:
4	chr19:40865553..40867508-chr19:40869694..40871667,2	K562	blood:
5	chr19:40789879..40793059-chr19:40870323..40872928,3	K562	blood:

No data

Variant related genes	Relation type
PLD3	TF binding region
ENSG00000105223	Chromatin interaction
ENSG00000105221	Chromatin interaction
ENSG00000160392	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10408405	1.00[EUR][1000 genomes]
rs10412156	1.00[EUR][1000 genomes]
rs10422945	1.00[EUR][1000 genomes]
rs10424704	1.00[EUR][1000 genomes]
rs11879375	1.00[EUR][1000 genomes]
rs11881681	1.00[EUR][1000 genomes]
rs13345497	1.00[EUR][1000 genomes]
rs13346024	1.00[EUR][1000 genomes]
rs1865081	1.00[EUR][1000 genomes]
rs268659	1.00[EUR][1000 genomes]
rs28407044	1.00[EUR][1000 genomes]
rs28679850	1.00[EUR][1000 genomes]
rs28728269	1.00[EUR][1000 genomes]
rs3730257	1.00[EUR][1000 genomes]
rs4150984	1.00[EUR][1000 genomes]
rs55646097	1.00[EUR][1000 genomes]
rs55860305	1.00[EUR][1000 genomes]
rs55954198	1.00[EUR][1000 genomes]
rs60115762	1.00[EUR][1000 genomes]
rs61018633	1.00[EUR][1000 genomes]
rs73559625	1.00[EUR][1000 genomes]
rs73559626	1.00[EUR][1000 genomes]
rs73559635	1.00[EUR][1000 genomes]
rs73933256	1.00[EUR][1000 genomes]
rs73933258	1.00[EUR][1000 genomes]
rs73933265	1.00[EUR][1000 genomes]
rs73933276	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer 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	35 gene(s)	inside rSNPs	diseases
3	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	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
5	nsv911707	chr19:40855255-40948202	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40855600-40871000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr19:40855600-40871000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr19:40855600-40871000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr19:40855600-40871000	Weak transcription	Fetal Brain Male	brain
5	chr19:40855600-40871000	Weak transcription	Fetal Intestine Large	intestine
6	chr19:40855600-40871000	Weak transcription	Right Atrium	heart
7	chr19:40855600-40871000	Weak transcription	NHDF-Ad	bronchial
8	chr19:40855600-40871000	Weak transcription	NHEK	skin
9	chr19:40855600-40871200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:40855600-40871200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr19:40855600-40871200	Weak transcription	Colon Smooth Muscle	Colon
12	chr19:40855600-40871200	Weak transcription	Small Intestine	intestine
13	chr19:40855600-40871400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:40855600-40871400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:40855600-40871400	Weak transcription	Left Ventricle	heart
16	chr19:40855600-40871400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr19:40855600-40871400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr19:40855600-40871400	Weak transcription	Right Ventricle	heart
19	chr19:40855600-40871400	Weak transcription	NHLF	lung
20	chr19:40855600-40872400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr19:40855600-40872400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr19:40855600-40872600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr19:40855600-40873400	Weak transcription	Aorta	Aorta
24	chr19:40855600-40875800	Weak transcription	HSMMtube	muscle
25	chr19:40855800-40871400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:40856600-40873600	Weak transcription	Psoas Muscle	Psoas
27	chr19:40857800-40871200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:40861600-40871400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr19:40862600-40871000	Weak transcription	Ovary	ovary
30	chr19:40863400-40871000	Weak transcription	Pancreas	Pancrea
31	chr19:40863600-40871400	Weak transcription	Brain Anterior Caudate	brain
32	chr19:40863800-40871400	Weak transcription	Fetal Lung	lung
33	chr19:40864000-40871000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:40864000-40871000	Weak transcription	Brain Substantia Nigra	brain
35	chr19:40864000-40871200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:40864000-40871200	Weak transcription	Fetal Kidney	kidney
37	chr19:40864000-40884400	Weak transcription	HepG2	liver
38	chr19:40864200-40871200	Weak transcription	HUVEC	blood vessel
39	chr19:40864200-40871400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:40865400-40872000	Weak transcription	Colonic Mucosa	Colon
41	chr19:40865600-40871000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr19:40865600-40871400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr19:40865800-40871000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:40865800-40871400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr19:40866000-40871000	Weak transcription	Fetal Muscle Leg	muscle
46	chr19:40866000-40877600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:40866200-40871200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr19:40866200-40871200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:40866200-40871200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr19:40866400-40871000	Weak transcription	Lung	lung

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