Variant report

Variant	rs439382
Chromosome Location	chr19:45408475-45408476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:45405203-45410051	K562	blood:	n/a	n/a
2	POLR2A	chr19:45405561-45409156	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr19:45405620-45409311	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr19:45405457-45408484	GM12892	blood:	n/a	n/a
5	PBX3	chr19:45406871-45408484	A549	lung:	n/a	n/a
6	POLR2A	chr19:45405893-45410103	K562	blood:	n/a	n/a
7	POLR2A	chr19:45406406-45409102	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr19:45406450-45409309	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr19:45405484-45410277	H1-hESC	embryonic stem cell:	n/a	n/a
10	TCF12	chr19:45406679-45408501	A549	lung:	n/a	n/a
11	POLR2A	chr19:45406875-45410413	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr19:45405446-45408522	GM12892	blood:	n/a	n/a
13	BCL3	chr19:45406608-45408483	A549	lung:	n/a	chr19:45407172-45407181 chr19:45407536-45407545
14	POLR2A	chr19:45406861-45411781	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45406839..45408683-chr19:45455179..45456897,2	MCF-7	breast:
2	chr19:45407734..45410496-chr19:45474972..45477815,2	K562	blood:
3	chr19:45406430..45412448-chr19:45445993..45451546,6	K562	blood:
4	chr19:45407631..45409490-chr19:45429198..45431974,3	K562	blood:
5	chr19:45408290..45410344-chr19:45572852..45575175,2	K562	blood:
6	chr19:45407631..45409490-chr19:45429549..45431974,2	K562	blood:
7	chr19:45407367..45409189-chr19:45457819..45459866,2	K562	blood:
8	chr19:45405563..45412018-chr19:45456830..45459683,7	MCF-7	breast:
9	chr19:45396519..45400631-chr19:45405107..45409651,5	MCF-7	breast:

No data

Variant related genes	Relation type
APOE	TF binding region
ENSG00000130204	Chromatin interaction
ENSG00000104853	Chromatin interaction
ENSG00000234906	Chromatin interaction
ENSG00000267114	Chromatin interaction
ENSG00000104859	Chromatin interaction
ENSG00000214855	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs157583	1.00[ASN][1000 genomes]
rs157587	1.00[ASN][1000 genomes]
rs166907	1.00[ASN][1000 genomes]
rs394819	1.00[ASN][1000 genomes]
rs417357	1.00[ASN][1000 genomes]
rs434132	1.00[ASN][1000 genomes]
rs435380	1.00[ASN][1000 genomes]
rs446037	1.00[ASN][1000 genomes]
rs490243	1.00[ASN][1000 genomes]
rs491153	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912129	chr19:45379791-45448465	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv912130	chr19:45382034-45448465	Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription 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	17 gene(s)	inside rSNPs	diseases
3	nsv912131	chr19:45391582-45415640	Flanking Active TSS Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv912132	chr19:45393473-45415640	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv912133	chr19:45395619-45482884	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
6	nsv912134	chr19:45395619-45528799	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv912135	chr19:45408312-45415640	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45396000-45408600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr19:45397000-45408800	Weak transcription	Psoas Muscle	Psoas
3	chr19:45400400-45414200	Weak transcription	Hela-S3	cervix
4	chr19:45400600-45409000	Weak transcription	Fetal Kidney	kidney
5	chr19:45401400-45408800	Weak transcription	Right Atrium	heart
6	chr19:45403600-45409000	Weak transcription	HSMM	muscle
7	chr19:45404400-45408600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr19:45405000-45408600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:45406200-45408600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:45406200-45408600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:45406200-45408800	Weak transcription	Left Ventricle	heart
12	chr19:45406200-45408800	Weak transcription	NHEK	skin
13	chr19:45406200-45409200	Weak transcription	HSMMtube	muscle
14	chr19:45406400-45408600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr19:45406400-45408600	Weak transcription	Fetal Lung	lung
16	chr19:45406400-45408600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:45406400-45408800	Weak transcription	HMEC	breast
18	chr19:45406400-45409000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:45406600-45408600	Flanking Active TSS	HepG2	liver
20	chr19:45406800-45408600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr19:45406800-45409200	Weak transcription	Gastric	stomach
22	chr19:45406800-45409600	Weak transcription	Dnd41	blood
23	chr19:45406800-45414200	Weak transcription	Lung	lung
24	chr19:45407000-45408600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr19:45407000-45408600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr19:45407000-45408600	Flanking Active TSS	Liver	Liver
27	chr19:45407000-45408600	Enhancers	Fetal Intestine Large	intestine
28	chr19:45407000-45408800	Enhancers	K562	blood
29	chr19:45407200-45408600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr19:45407200-45408600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:45407200-45408600	Enhancers	Colonic Mucosa	Colon
32	chr19:45407200-45408600	Weak transcription	NHLF	lung
33	chr19:45407400-45408600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr19:45407400-45408600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:45407400-45408800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:45407400-45408800	Weak transcription	Fetal Heart	heart
37	chr19:45407400-45408800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr19:45407400-45409200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr19:45407600-45408600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:45407600-45408600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:45407600-45408600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:45407600-45408800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:45407600-45408800	Bivalent Enhancer	Fetal Stomach	stomach
44	chr19:45407600-45408800	Weak transcription	Right Ventricle	heart
45	chr19:45407600-45409400	Weak transcription	GM12878-XiMat	blood
46	chr19:45407800-45408600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:45407800-45408600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr19:45407800-45408800	Weak transcription	Brain Hippocampus Middle	brain
49	chr19:45407800-45408800	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr19:45407800-45409000	Bivalent Enhancer	Placenta	Placenta

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