Variant report

Variant	rs56058717
Chromosome Location	chr19:41945304-41945305
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:153)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:153 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41945247-41946001	K562	blood:	n/a	n/a
2	POLR2A	chr19:41945262-41946029	HCT-116	colon:	n/a	n/a
3	POLR2A	chr19:41945268-41945919	HCT-116	colon:	n/a	n/a
4	POLR2A	chr19:41945144-41946090	PFSK-1	brain:	n/a	n/a
5	TBP	chr19:41945231-41946104	GM12878	blood:	n/a	n/a
6	SP1	chr19:41945266-41946129	GM12878	blood:	n/a	chr19:41945881-41945891 chr19:41945487-41945508 chr19:41945531-41945552
7	RCOR1	chr19:41945283-41946144	K562	blood:	n/a	n/a
8	POLR2A	chr19:41945243-41946009	MCF-7	breast:	n/a	n/a
9	TCF12	chr19:41945244-41946223	A549	lung:	n/a	n/a
10	REST	chr19:41945242-41946106	A549	lung:	n/a	n/a
11	POLR2A	chr19:41945230-41946031	GM12878	blood:	n/a	n/a
12	MAX	chr19:41945184-41946266	A549	lung:	n/a	n/a
13	SIN3AK20	chr19:41945171-41946226	A549	lung:	n/a	n/a
14	HEY1	chr19:41945184-41946069	HepG2	liver:	n/a	n/a
15	EP300	chr19:41945083-41946235	A549	lung:	n/a	chr19:41945481-41945488 chr19:41945119-41945133
16	HEY1	chr19:41945252-41946001	K562	blood:	n/a	n/a
17	NR2F2	chr19:41945223-41946016	K562	blood:	n/a	n/a
18	POLR2A	chr19:41945188-41945991	MCF10A-Er-Src	breast:	n/a	n/a
19	ATF3	chr19:41945143-41946236	A549	lung:	n/a	n/a
20	TAF1	chr19:41945194-41946151	A549	lung:	n/a	n/a
21	POLR2A	chr19:41945233-41946015	HUVEC	blood vessel:	n/a	n/a
22	CREB1	chr19:41945240-41946155	H1-hESC	embryonic stem cell:	n/a	n/a
23	YY1	chr19:41945259-41946270	A549	lung:	n/a	n/a
24	SP1	chr19:41945292-41946143	HepG2	liver:	n/a	chr19:41945881-41945891 chr19:41945487-41945508 chr19:41945531-41945552
25	POLR2A	chr19:41945272-41946025	GM12891	blood:	n/a	n/a
26	POLR2A	chr19:41945271-41945940	ProgFib	skin:	n/a	n/a
27	POLR2A	chr19:41945250-41946011	K562	blood:	n/a	n/a
28	TAF1	chr19:41945275-41946063	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr19:41945223-41946051	GM12892	blood:	n/a	n/a
30	POLR2A	chr19:41945269-41946003	H1-hESC	embryonic stem cell:	n/a	n/a
31	GABPA	chr19:41945159-41946217	A549	lung:	n/a	n/a
32	BCL3	chr19:41945045-41946144	A549	lung:	n/a	chr19:41945957-41945965
33	NFATC1	chr19:41945156-41946139	GM12878	blood:	n/a	n/a
34	GABPA	chr19:41945143-41946196	MCF-7	breast:	n/a	n/a
35	POLR2A	chr19:41945180-41946073	SK-N-SH	brain:	n/a	n/a
36	IRF1	chr19:41945146-41946121	K562	blood:	n/a	chr19:41945498-41945507 chr19:41945878-41945892
37	POLR2A	chr19:41945276-41945975	K562	blood:	n/a	n/a
38	POLR2A	chr19:41945198-41946116	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr19:41945075-41946186	HUVEC	blood vessel:	n/a	n/a
40	IRF3	chr19:41945216-41945997	GM12878	blood:	n/a	chr19:41945498-41945507 chr19:41945878-41945892
41	SIN3AK20	chr19:41945225-41946196	A549	lung:	n/a	n/a
42	MAX	chr19:41945301-41946267	ECC-1	luminal epithelium:	n/a	n/a
43	TAF1	chr19:41945200-41946144	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr19:41945293-41946059	ECC-1	luminal epithelium:	n/a	n/a
45	TBP	chr19:41945254-41945984	Hela-S3	cervix:	n/a	n/a
46	SP1	chr19:41945293-41946070	K562	blood:	n/a	chr19:41945881-41945891 chr19:41945487-41945508 chr19:41945531-41945552
47	MAX	chr19:41945268-41946230	MCF-7	breast:	n/a	n/a
48	POLR2A	chr19:41945197-41946091	GM12878	blood:	n/a	n/a
49	MAX	chr19:41945175-41946313	HCT-116	colon:	n/a	n/a
50	JUND	chr19:41945257-41946053	H1-hESC	embryonic stem cell:	n/a	chr19:41945496-41945505

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41944180..41946970-chr7:80547778..80549990,2	MCF-7	breast:
2	chr19:41857565..41861683-chr19:41942530..41947234,4	MCF-7	breast:
3	chr19:41859512..41861303-chr19:41943975..41945825,3	K562	blood:
4	chr19:41944238..41947062-chr19:41948910..41951983,5	K562	blood:
5	chr19:41930070..41932098-chr19:41944342..41947114,3	K562	blood:
6	chr19:41931962..41935414-chr19:41944317..41947167,6	MCF-7	breast:
7	chr19:41868336..41870018-chr19:41944233..41946275,2	K562	blood:
8	chr19:41903473..41906087-chr19:41945278..41947256,2	MCF-7	breast:
9	chr19:41944280..41946189-chr19:42004239..42006678,2	K562	blood:
10	chr19:41932975..41939032-chr19:41942824..41947362,11	K562	blood:
11	chr19:41940773..41942496-chr19:41944318..41947193,2	MCF-7	breast:
12	chr19:41901938..41905441-chr19:41944047..41947443,5	K562	blood:
13	chr19:41868336..41871272-chr19:41944233..41948538,5	K562	blood:
14	chr19:41944614..41946975-chr19:41948804..41950642,2	MCF-7	breast:
15	chr1:226111283..226112258-chr19:41945016..41945997,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ATP5SL	TF binding region
C19orf69	TF binding region
ENSG00000268987	Chromatin interaction
ENSG00000105341	Chromatin interaction
ENSG00000267107	Chromatin interaction
ENSG00000204978	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000077348	Chromatin interaction
ENSG00000075223	Chromatin interaction
ENSG00000123810	Chromatin interaction
ENSG00000268475	Chromatin interaction
ENSG00000248098	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000143811	Chromatin interaction
ENSG00000177191	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11466321	1.00[ASN][1000 genomes]
rs12327735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12327737	1.00[ASN][1000 genomes]
rs12327776	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800471	1.00[ASN][1000 genomes]
rs2231936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36035938	1.00[ASN][1000 genomes]
rs55826925	1.00[ASN][1000 genomes]
rs58479032	1.00[ASN][1000 genomes]
rs58921598	1.00[ASN][1000 genomes]
rs59204307	1.00[ASN][1000 genomes]
rs59233264	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59777247	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73047219	1.00[ASN][1000 genomes]
rs73931466	1.00[ASN][1000 genomes]
rs73931468	1.00[ASN][1000 genomes]
rs73931470	1.00[ASN][1000 genomes]
rs73931471	1.00[ASN][1000 genomes]
rs73931472	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73931473	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73931475	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73931477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73931479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73931480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73931482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73931483	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8102338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8102501	1.00[ASN][1000 genomes]
rs8106870	1.00[ASN][1000 genomes]
rs8106934	1.00[ASN][1000 genomes]
rs8106999	1.00[ASN][1000 genomes]
rs8108664	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9973242	1.00[ASN][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41934800-41945400	Weak transcription	Small Intestine	intestine
2	chr19:41939600-41945400	Weak transcription	Gastric	stomach
3	chr19:41943000-41945400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr19:41944200-41945400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:41944400-41945400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:41944400-41945400	Weak transcription	Esophagus	oesophagus
7	chr19:41944400-41945400	Weak transcription	Lung	lung
8	chr19:41944400-41945400	Weak transcription	Spleen	Spleen
9	chr19:41944400-41945400	Flanking Active TSS	Dnd41	blood
10	chr19:41944800-41945400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:41944800-41945400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr19:41944800-41945400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:41944800-41945400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr19:41944800-41945400	Flanking Active TSS	Hela-S3	cervix
15	chr19:41944800-41945400	Flanking Active TSS	NHEK	skin
16	chr19:41944800-41945600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr19:41944800-41945600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:41944800-41945800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr19:41944800-41946000	Active TSS	H9 Cell Line	embryonic stem cell
20	chr19:41944800-41946000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:41944800-41946000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:41944800-41946200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:41944800-41946200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:41944800-41946200	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr19:41944800-41946200	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr19:41944800-41946200	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr19:41944800-41946200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:41944800-41946200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:41944800-41946200	Active TSS	Fetal Brain Female	brain
30	chr19:41944800-41946200	Active TSS	Psoas Muscle	Psoas
31	chr19:41944800-41946200	Active TSS	GM12878-XiMat	blood
32	chr19:41944800-41946400	Active TSS	H1 Cell Line	embryonic stem cell
33	chr19:41944800-41946400	Active TSS	Stomach Smooth Muscle	stomach
34	chr19:41945000-41945400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:41945000-41945400	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr19:41945000-41945400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr19:41945000-41945400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:41945000-41945400	Flanking Active TSS	Liver	Liver
39	chr19:41945000-41945400	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr19:41945000-41945400	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr19:41945000-41945400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr19:41945000-41945400	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr19:41945000-41945400	Flanking Active TSS	Fetal Kidney	kidney
44	chr19:41945000-41945400	Flanking Active TSS	Fetal Stomach	stomach
45	chr19:41945000-41945400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr19:41945000-41945400	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr19:41945000-41945400	Flanking Active TSS	Thymus	Thymus
48	chr19:41945000-41945400	Flanking Active TSS	HUVEC	blood vessel
49	chr19:41945000-41945400	Flanking Active TSS	NH-A	brain
50	chr19:41945000-41945400	Flanking Active TSS	NHLF	lung

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