Variant report

Variant	rs60030397
Chromosome Location	chr19:19772470-19772471
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr19:19772451-19773027	GM12892	blood:	n/a	n/a
2	POLR2A	chr19:19772031-19775125	GM19193	blood:	n/a	n/a
3	POLR2A	chr19:19771886-19774863	GM12878	blood:	n/a	n/a
4	RCOR1	chr19:19772150-19772994	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:19772026-19775170	GM18505	blood:	n/a	n/a
6	CREB1	chr19:19772345-19773083	GM12878	blood:	n/a	chr19:19772685-19772698
7	POLR2A	chr19:19772089-19775169	GM18951	blood:	n/a	n/a
8	POLR2A	chr19:19772425-19775227	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr19:19771866-19775239	GM12892	blood:	n/a	n/a
10	EP300	chr19:19772440-19773036	GM12878	blood:	n/a	n/a
11	POU2F2	chr19:19772366-19773608	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:19772336-19773649	GM12878	blood:	n/a	n/a
13	NFATC1	chr19:19772242-19773224	GM12878	blood:	n/a	n/a
14	SIN3A	chr19:19772433-19773066	GM12878	blood:	n/a	n/a
15	MXI1	chr19:19771963-19775426	SK-N-SH	brain:	n/a	chr19:19774765-19774780 chr19:19774550-19774565
16	WRNIP1	chr19:19772134-19774816	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:19771901-19775139	K562	blood:	n/a	n/a
18	POLR2A	chr19:19772159-19775226	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:19771894-19774978	GM12891	blood:	n/a	n/a
20	STAT5A	chr19:19772285-19774087	GM12878	blood:	n/a	n/a
21	POLR2A	chr19:19771960-19774921	GM12892	blood:	n/a	n/a
22	FOXM1	chr19:19772414-19773021	GM12878	blood:	n/a	n/a
23	POLR2A	chr19:19772273-19772653	MCF-7	breast:	n/a	n/a
24	PML	chr19:19772238-19773454	GM12878	blood:	n/a	n/a
25	FOXM1	chr19:19772414-19773153	GM12878	blood:	n/a	n/a
26	YY1	chr19:19772386-19773067	GM12878	blood:	n/a	n/a
27	ATF2	chr19:19772464-19772970	GM12878	blood:	n/a	chr19:19772686-19772697
28	POLR2A	chr19:19772390-19773575	HL-60	blood:	n/a	n/a
29	POLR2A	chr19:19772032-19775174	GM12891	blood:	n/a	n/a
30	POLR2A	chr19:19772112-19775164	GM19099	blood:	n/a	n/a
31	POLR2A	chr19:19772075-19775176	GM12892	blood:	n/a	n/a
32	POLR2A	chr19:19771776-19774877	GM12892	blood:	n/a	n/a
33	POLR2A	chr19:19771906-19773511	K562	blood:	n/a	n/a
34	NFATC1	chr19:19772192-19773969	GM12878	blood:	n/a	n/a
35	RFX5	chr19:19772466-19773017	GM12878	blood:	n/a	n/a
36	BCLAF1	chr19:19772371-19773166	GM12878	blood:	n/a	n/a
37	POLR2A	chr19:19771895-19774869	GM12892	blood:	n/a	n/a
38	TBP	chr19:19772456-19773212	GM12878	blood:	n/a	n/a
39	POLR2A	chr19:19771777-19775243	GM12878	blood:	n/a	n/a
40	ZNF263	chr19:19772248-19773244	HEK293-T-REx	kidney:	n/a	chr19:19772523-19772544 chr19:19773074-19773083
41	MTA3	chr19:19772027-19774887	GM12878	blood:	n/a	n/a
42	MAX	chr19:19772441-19773596	GM12878	blood:	n/a	n/a
43	POLR2A	chr19:19772050-19775180	GM12878	blood:	n/a	n/a
44	RUNX3	chr19:19772358-19773225	GM12878	blood:	n/a	n/a
45	POLR2A	chr19:19772321-19774881	GM12891	blood:	n/a	n/a
46	POLR2A	chr19:19771928-19774881	GM12891	blood:	n/a	n/a
47	NFIC	chr19:19772363-19773283	GM12878	blood:	n/a	n/a
48	MXI1	chr19:19772363-19773112	GM12878	blood:	n/a	n/a
49	SPI1	chr19:19772386-19773362	GM12878	blood:	n/a	chr19:19772932-19772939 chr19:19773207-19773220 chr19:19772929-19772942
50	POLR2A	chr19:19771908-19775292	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19755704..19761642-chr19:19771468..19774473,6	MCF-7	breast:
2	chr19:19753534..19755355-chr19:19771479..19774786,3	MCF-7	breast:
3	chr19:19636166..19641062-chr19:19772143..19775843,4	MCF-7	breast:
4	chr19:19751259..19757786-chr19:19771999..19776232,8	K562	blood:
5	chr19:19649331..19652417-chr19:19771491..19776120,6	K562	blood:
6	chr19:19729417..19731495-chr19:19772370..19774542,2	MCF-7	breast:
7	chr19:19767560..19771032-chr19:19771876..19774701,8	MCF-7	breast:
8	chr19:19649600..19655493-chr19:19770960..19774805,7	K562	blood:
9	chr19:19751259..19758144-chr19:19770384..19776332,14	K562	blood:
10	chr19:19673046..19675875-chr19:19772243..19774932,2	K562	blood:
11	chr19:19753961..19756109-chr19:19770427..19773007,2	MCF-7	breast:
12	chr19:19772164..19776257-chr19:19777737..19781997,10	MCF-7	breast:

No data

Variant related genes	Relation type
ATP13A1	TF binding region
ENSG00000181896	Chromatin interaction
ENSG00000089639	Chromatin interaction
ENSG00000160161	Chromatin interaction
ENSG00000250067	Chromatin interaction
ENSG00000105726	Chromatin interaction
ENSG00000105717	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10421328	1.00[ASN][1000 genomes]
rs55831814	1.00[ASN][1000 genomes]
rs59327775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61752462	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919778	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv911309	chr19:19727042-19784891	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv911310	chr19:19753882-19784891	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
5	esv3330851	chr19:19755507-19852881	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19755400-19772800	Strong transcription	Thymus	Thymus
2	chr19:19766400-19772800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:19767000-19773400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:19768200-19773000	Weak transcription	Psoas Muscle	Psoas
5	chr19:19769600-19772800	Weak transcription	NH-A	brain
6	chr19:19769800-19773200	Weak transcription	Fetal Kidney	kidney
7	chr19:19770000-19772600	Weak transcription	HUVEC	blood vessel
8	chr19:19770200-19772800	Weak transcription	HSMM	muscle
9	chr19:19770200-19773600	Weak transcription	Aorta	Aorta
10	chr19:19770600-19772800	Weak transcription	HSMMtube	muscle
11	chr19:19770800-19773000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:19770800-19773000	Weak transcription	Fetal Intestine Large	intestine
13	chr19:19770800-19773200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:19771200-19772600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr19:19771200-19773000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr19:19771200-19773200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr19:19771200-19773200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:19771200-19773200	Weak transcription	Ovary	ovary
19	chr19:19771800-19772800	Enhancers	Primary B cells from cord blood	blood
20	chr19:19771800-19773000	Genic enhancers	Brain Cingulate Gyrus	brain
21	chr19:19772000-19772600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
22	chr19:19772000-19772600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr19:19772000-19772600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:19772000-19772600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:19772000-19772600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr19:19772000-19772600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:19772000-19772600	Enhancers	Adipose Nuclei	Adipose
28	chr19:19772000-19772600	Genic enhancers	Spleen	Spleen
29	chr19:19772000-19772600	Flanking Active TSS	GM12878-XiMat	blood
30	chr19:19772000-19772600	Genic enhancers	Osteobl	bone
31	chr19:19772000-19772800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr19:19772000-19772800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr19:19772000-19772800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr19:19772000-19772800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:19772000-19772800	Genic enhancers	Lung	lung
36	chr19:19772000-19772800	Genic enhancers	K562	blood
37	chr19:19772000-19773000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr19:19772000-19773000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr19:19772000-19773000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr19:19772000-19773000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr19:19772000-19773000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:19772000-19773000	Enhancers	Liver	Liver
43	chr19:19772000-19773000	Genic enhancers	Brain Germinal Matrix	brain
44	chr19:19772000-19773000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
45	chr19:19772000-19773200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:19772000-19773200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr19:19772000-19773200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr19:19772000-19773200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr19:19772000-19773200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr19:19772000-19773200	Genic enhancers	Fetal Muscle Trunk	muscle

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