Variant report

Variant	rs4338894
Chromosome Location	chr19:44288829-44288830
allele	G/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	KAP1	chr19:44288590-44288869	U2OS	brain:	n/a	n/a
2	POLR2A	chr19:44288660-44288918	HUVEC	blood vessel:	n/a	n/a
3	TCF7L2	chr19:44288285-44288869	Hela-S3	cervix:	n/a	chr19:44288752-44288761 chr19:44288778-44288787
4	MAX	chr19:44288515-44288925	Hela-S3	cervix:	n/a	n/a
5	ZNF384	chr19:44288372-44288875	K562	blood:	n/a	n/a
6	TEAD4	chr19:44288421-44288969	K562	blood:	n/a	n/a
7	POLR2A	chr19:44288259-44288931	GM12892	blood:	n/a	n/a
8	MAX	chr19:44288500-44288851	K562	blood:	n/a	n/a
9	RAD21	chr19:44288552-44288962	IMR90	lung:	n/a	chr19:44288672-44288682
10	PAX5	chr19:44288268-44288890	GM12878	blood:	n/a	chr19:44288572-44288581
11	JUN	chr19:44288340-44288968	K562	blood:	n/a	chr19:44288778-44288787 chr19:44288753-44288761 chr19:44288779-44288790 chr19:44288752-44288762 chr19:44288752-44288762 chr19:44288777-44288786 chr19:44288776-44288788
12	NFIC	chr19:44288220-44289209	GM12878	blood:	n/a	n/a
13	SMC3	chr19:44288534-44289891	SK-N-SH	brain:	n/a	chr19:44289636-44289650
14	SP1	chr19:44288393-44289030	A549	lung:	n/a	chr19:44288721-44288734
15	EP300	chr19:44288587-44288829	K562	blood:	n/a	n/a
16	GATA3	chr19:44288470-44288978	MCF-7	breast:	n/a	n/a
17	SIN3AK20	chr19:44288498-44288907	SK-N-SH	brain:	n/a	n/a
18	MAX	chr19:44288513-44288964	K562	blood:	n/a	n/a
19	EP300	chr19:44288501-44289022	SK-N-SH	brain:	n/a	n/a
20	STAT3	chr19:44288629-44288854	MCF10A-Er-Src	breast:	n/a	n/a
21	CEBPB	chr19:44288575-44288886	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr19:44288551-44288923	K562	blood:	n/a	n/a
23	ZBTB7A	chr19:44288538-44289039	ECC-1	luminal epithelium:	n/a	n/a
24	BHLHE40	chr19:44288512-44288924	K562	blood:	n/a	n/a
25	JUN	chr19:44288553-44288994	K562	blood:	n/a	chr19:44288778-44288787 chr19:44288753-44288761 chr19:44288779-44288790 chr19:44288752-44288762 chr19:44288752-44288762 chr19:44288777-44288786 chr19:44288776-44288788
26	JUND	chr19:44288340-44289099	SK-N-SH	brain:	n/a	chr19:44288778-44288787 chr19:44288753-44288761 chr19:44288779-44288790 chr19:44288752-44288762 chr19:44288752-44288762 chr19:44288777-44288786 chr19:44288776-44288788
27	TCF12	chr19:44288283-44289988	MCF-7	breast:	n/a	chr19:44288708-44288715
28	ELF1	chr19:44288251-44288852	GM12878	blood:	n/a	n/a
29	MAFF	chr19:44288603-44288924	K562	blood:	n/a	n/a
30	RAD21	chr19:44288143-44290075	HCT-116	colon:	n/a	chr19:44288672-44288682 chr19:44289632-44289651
31	POLR2A	chr19:44288450-44289001	K562	blood:	n/a	n/a
32	MAZ	chr19:44288698-44288855	HepG2	liver:	n/a	n/a
33	SIN3AK20	chr19:44288363-44289941	MCF-7	breast:	n/a	n/a
34	ZBTB7A	chr19:44288476-44289076	ECC-1	luminal epithelium:	n/a	n/a
35	EP300	chr19:44288387-44289098	A549	lung:	n/a	n/a
36	HDAC2	chr19:44288455-44289016	MCF-7	breast:	n/a	n/a
37	RAD21	chr19:44288556-44288924	SK-N-SH_RA	brain:	n/a	chr19:44288672-44288682
38	EP300	chr19:44288573-44288954	K562	blood:	n/a	n/a
39	FOSL2	chr19:44288326-44289103	SK-N-SH	brain:	n/a	chr19:44288778-44288787 chr19:44288753-44288761 chr19:44288779-44288790 chr19:44288752-44288762 chr19:44288752-44288762 chr19:44288777-44288786 chr19:44288776-44288788
40	NR2F2	chr19:44288471-44289039	MCF-7	breast:	n/a	n/a
41	ZNF217	chr19:44288479-44288895	MCF-7	breast:	n/a	n/a
42	TCF3	chr19:44288327-44288834	GM12878	blood:	n/a	chr19:44288640-44288650 chr19:44288485-44288501
43	POLR2A	chr19:44288350-44288880	GM12892	blood:	n/a	n/a
44	JUND	chr19:44288498-44288994	SK-N-SH	brain:	n/a	chr19:44288778-44288787 chr19:44288753-44288761 chr19:44288779-44288790 chr19:44288752-44288762 chr19:44288752-44288762 chr19:44288777-44288786 chr19:44288776-44288788
45	TBP	chr19:44288559-44288871	K562	blood:	n/a	n/a
46	JUND	chr19:44288496-44289825	A549	lung:	n/a	chr19:44288778-44288787 chr19:44288753-44288761 chr19:44288779-44288790 chr19:44288752-44288762 chr19:44288752-44288762 chr19:44288777-44288786 chr19:44288776-44288788
47	POLR2A	chr19:44288661-44288916	K562	blood:	n/a	n/a
48	POLR2A	chr19:44288341-44289840	HCT-116	colon:	n/a	n/a
49	FOS	chr19:44288566-44288939	MCF10A-Er-Src	breast:	n/a	chr19:44288751-44288762 chr19:44288778-44288787 chr19:44288753-44288761 chr19:44288776-44288787 chr19:44288779-44288790 chr19:44288752-44288762 chr19:44288752-44288762 chr19:44288777-44288786 chr19:44288776-44288788
50	POLR2A	chr19:44288599-44288961	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44254856..44260610-chr19:44285479..44289743,8	MCF-7	breast:
2	chr19:44037281..44039805-chr19:44287429..44289593,2	K562	blood:
3	chr19:43967500..43969727-chr19:44288135..44290383,3	MCF-7	breast:
4	chr19:44287294..44289449-chr19:44292434..44295257,2	MCF-7	breast:
5	chr19:44250536..44251488-chr19:44288767..44289640,2	MCF-7	breast:
6	chr19:44256760..44265122-chr19:44281375..44290996,18	K562	blood:
7	chr19:44256245..44259869-chr19:44284477..44291035,7	MCF-7	breast:

Variant related genes	Relation type
KCNN4	TF binding region
ENSG00000105771	Chromatin interaction
ENSG00000176472	Chromatin interaction
ENSG00000124466	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1545966	0.81[AMR][1000 genomes]
rs375440	0.81[AMR][1000 genomes]
rs389903	0.81[AMR][1000 genomes]
rs9973290	0.81[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44282400-44289200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:44285200-44289400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr19:44285200-44289400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr19:44285200-44289600	Enhancers	Esophagus	oesophagus
5	chr19:44285400-44291400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:44285800-44289200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:44285800-44289400	Enhancers	Stomach Mucosa	stomach
8	chr19:44285800-44289800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:44286000-44289600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr19:44286600-44289800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr19:44287200-44289000	Weak transcription	Lung	lung
12	chr19:44287200-44289200	Weak transcription	HepG2	liver
13	chr19:44287400-44289400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr19:44287400-44289600	Enhancers	Colonic Mucosa	Colon
15	chr19:44287400-44289800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:44287400-44289800	Enhancers	Duodenum Mucosa	Duodenum
17	chr19:44287400-44291400	Enhancers	HMEC	breast
18	chr19:44287600-44289800	Flanking Active TSS	Hela-S3	cervix
19	chr19:44287800-44289600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr19:44287800-44289600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:44287800-44289600	Enhancers	Fetal Thymus	thymus
22	chr19:44288000-44289000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr19:44288000-44289400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:44288000-44289400	Enhancers	Primary T cells from cord blood	blood
25	chr19:44288000-44289400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr19:44288000-44289400	Enhancers	NHDF-Ad	bronchial
27	chr19:44288000-44289400	Enhancers	NHLF	lung
28	chr19:44288000-44289600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:44288000-44289600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr19:44288000-44289600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr19:44288000-44289600	Enhancers	Primary B cells from cord blood	blood
32	chr19:44288000-44289600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr19:44288000-44290200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr19:44288200-44289200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:44288200-44289200	Enhancers	Osteobl	bone
36	chr19:44288200-44289400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:44288200-44289400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr19:44288200-44289600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:44288200-44289600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:44288200-44289600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr19:44288200-44289600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:44288200-44289600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:44288200-44289600	Flanking Active TSS	A549	lung
44	chr19:44288200-44289600	Enhancers	HSMM	muscle
45	chr19:44288200-44289600	Flanking Active TSS	NHEK	skin
46	chr19:44288400-44289200	Weak transcription	Fetal Intestine Large	intestine
47	chr19:44288400-44289400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:44288400-44289600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr19:44288400-44289600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:44288400-44289600	Enhancers	Adipose Nuclei	Adipose

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