Variant report

Variant	rs73028384
Chromosome Location	chr19:38716700-38716701
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	CTCF	chr19:38716600-38716750	HCT-116	colon:	n/a	n/a
2	CTCF	chr19:38716700-38716850	HEK293	kidney:	n/a	n/a
3	CTCF	chr19:38716668-38716821	GM19240	blood:	n/a	n/a
4	CTCF	chr19:38716694-38716769	GM12878	blood:	n/a	n/a
5	CTCF	chr19:38716620-38716770	AG10803	skin:	n/a	n/a
6	POLR2A	chr19:38716498-38717217	K562	blood:	n/a	n/a
7	CTCF	chr19:38716663-38717425	GM12892	blood:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717180-38717188 chr19:38717025-38717041 chr19:38717027-38717040
8	CTCF	chr19:38716655-38717300	IMR90	lung:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717180-38717188 chr19:38717025-38717041 chr19:38717027-38717040
9	CTCF	chr19:38716660-38716810	AG10803	skin:	n/a	n/a
10	CTCF	chr19:38716680-38716830	GM12865	blood:	n/a	n/a
11	CTCF	chr19:38716700-38716850	GM12874	blood:	n/a	n/a
12	CTCF	chr19:38716580-38716730	GM12874	blood:	n/a	n/a
13	CTCF	chr19:38716700-38716803	NHEK	skin:	n/a	n/a
14	CTCF	chr19:38716620-38716770	HRE	kidney:	n/a	n/a
15	CTCF	chr19:38716580-38716730	HFF-Myc	foreskin:	n/a	n/a
16	CTCF	chr19:38716640-38716790	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr19:38716600-38716750	GM12873	blood:	n/a	n/a
18	POLR2A	chr19:38716549-38717159	K562	blood:	n/a	n/a
19	CTCF	chr19:38716660-38716810	GM12867	blood:	n/a	n/a
20	POLR2A	chr19:38716583-38716835	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr19:38716642-38717199	GM12891	blood:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717180-38717188 chr19:38717025-38717041 chr19:38717027-38717040
22	CTCF	chr19:38716543-38717543	SK-N-SH	brain:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717180-38717188 chr19:38717025-38717041 chr19:38717027-38717040
23	CTCF	chr19:38716660-38716810	HepG2	liver:	n/a	n/a
24	POLR2A	chr19:38716616-38717131	K562	blood:	n/a	n/a
25	CTCF	chr19:38716680-38716830	AG04449	skin:	n/a	n/a
26	POLR2A	chr19:38716643-38716880	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr19:38716495-38717226	K562	blood:	n/a	n/a
28	HEY1	chr19:38716550-38717242	K562	blood:	n/a	n/a
29	CTCF	chr19:38716640-38716790	HEK293	kidney:	n/a	n/a
30	CTCF	chr19:38716660-38716810	SAEC	small airway:	n/a	n/a
31	CTCF	chr19:38716700-38716850	RPTEC	kidney:	n/a	n/a
32	CTCF	chr19:38716620-38716770	HRPEpiC	eye:	n/a	n/a
33	CTCF	chr19:38716640-38716790	WI-38	lung:	n/a	n/a
34	CTCF	chr19:38716700-38716850	GM12872	blood:	n/a	n/a
35	CTCF	chr19:38716700-38716850	SAEC	small airway:	n/a	n/a
36	CTCF	chr19:38716680-38716830	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr19:38716693-38716805	GM19239	blood:	n/a	n/a
38	CTCF	chr19:38716580-38716730	GM12872	blood:	n/a	n/a
39	CTCF	chr19:38716420-38717760	A549	lung:	n/a	chr19:38717027-38717036 chr19:38717029-38717039 chr19:38717024-38717042 chr19:38717027-38717040 chr19:38717026-38717047 chr19:38717180-38717188 chr19:38717025-38717041 chr19:38717027-38717040
40	CTCF	chr19:38716580-38716730	BE2_C	brain:	n/a	n/a
41	CTCF	chr19:38716660-38716810	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr19:38716620-38716770	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr19:38716640-38716790	GM12878	blood:	n/a	n/a
44	CTCF	chr19:38716680-38716830	GM06990	blood:	n/a	n/a
45	CTCF	chr19:38716560-38716710	GM12864	blood:	n/a	n/a
46	CHD2	chr19:38716669-38716784	K562	blood:	n/a	n/a
47	CTCF	chr19:38716700-38716850	HMEC	breast:	n/a	n/a
48	CTCF	chr19:38716660-38716810	GM12864	blood:	n/a	n/a
49	CTCF	chr19:38716660-38716810	GM12865	blood:	n/a	n/a
50	CTCF	chr19:38716700-38716850	AoAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:38716611..38717479-chr19:38825815..38826777,3	K562	blood:
2	chr19:38715204..38718579-chr19:38826351..38828588,3	K562	blood:
3	chr19:38713729..38715323-chr19:38716058..38719030,2	K562	blood:
4	chr19:38715242..38718088-chr19:38941035..38943575,2	K562	blood:
5	chr19:38713237..38716742-chr19:38865084..38866886,4	MCF-7	breast:
6	chr19:38714374..38716736-chr19:38753965..38756092,2	MCF-7	breast:
7	chr19:38651241..38653210-chr19:38716095..38718461,3	K562	blood:
8	chr19:38715608..38719883-chr19:38825304..38828918,6	K562	blood:
9	chr19:38715033..38716998-chr19:38741502..38743244,2	K562	blood:
10	chr19:38604586..38606112-chr19:38715121..38717021,2	K562	blood:
11	chr19:38651349..38653210-chr19:38716095..38718461,2	K562	blood:
12	chr19:38673271..38675565-chr19:38714868..38716918,2	K562	blood:

Variant related genes	Relation type
DPF1	TF binding region
ENSG00000269653	Chromatin interaction
ENSG00000099341	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000011332	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34121040	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73028390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8100697	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38715200-38718200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:38715200-38719000	Weak transcription	Right Atrium	heart
3	chr19:38715200-38719200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr19:38715200-38719200	Weak transcription	Pancreas	Pancrea
5	chr19:38715400-38717000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:38715400-38717000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr19:38715400-38717000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr19:38715400-38717000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:38715400-38717200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:38715400-38717200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:38715400-38717200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:38715400-38717200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:38715400-38717200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:38715400-38717200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr19:38715400-38718200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr19:38715400-38718200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:38715400-38718400	Weak transcription	Brain Angular Gyrus	brain
18	chr19:38715400-38718400	Weak transcription	Fetal Heart	heart
19	chr19:38715400-38718600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:38715400-38719000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:38715400-38719200	Weak transcription	NH-A	brain
22	chr19:38715400-38719200	Weak transcription	NHDF-Ad	bronchial
23	chr19:38715600-38716800	Weak transcription	Fetal Brain Male	brain
24	chr19:38715600-38717000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr19:38715600-38717000	Enhancers	Fetal Brain Female	brain
26	chr19:38715600-38718000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:38715600-38718000	Weak transcription	NHEK	skin
28	chr19:38715600-38719400	Weak transcription	Brain Anterior Caudate	brain
29	chr19:38715600-38719600	Weak transcription	Hela-S3	cervix
30	chr19:38716000-38717600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr19:38716200-38717000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr19:38716600-38716800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:38716600-38716800	Bivalent Enhancer	Fetal Stomach	stomach
34	chr19:38716600-38716800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr19:38716600-38717200	Active TSS	Brain Germinal Matrix	brain
36	chr19:38716600-38717400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:38716600-38718000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr19:38716600-38718000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:38716600-38718400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr19:38716600-38718600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:38716600-38719200	Enhancers	A549	lung
42	chr19:38716600-38720800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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