Variant report

Variant	rs139339816
Chromosome Location	chr19:19143232-19143233
allele	A/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	NFYB	chr19:19143222-19143595	K562	blood:	n/a	chr19:19143370-19143385 chr19:19143370-19143385 chr19:19143370-19143384 chr19:19143369-19143381
2	SPI1	chr19:19143220-19143475	GM12891	blood:	n/a	n/a
3	MXI1	chr19:19142926-19145719	SK-N-SH	brain:	n/a	chr19:19144717-19144726 chr19:19144719-19144728 chr19:19144719-19144728
4	POLR2A	chr19:19142191-19144083	PFSK-1	brain:	n/a	n/a
5	ATF2	chr19:19143175-19143566	GM12878	blood:	n/a	n/a
6	SIN3AK20	chr19:19143146-19143813	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr19:19143222-19143871	NB4	blood:	n/a	n/a
8	PBX3	chr19:19143099-19143726	SK-N-SH	brain:	n/a	chr19:19143358-19143378
9	POLR2A	chr19:19143230-19145419	GM12891	blood:	n/a	n/a
10	POLR2A	chr19:19143173-19143664	GM12891	blood:	n/a	n/a
11	PML	chr19:19143101-19145513	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:19143104-19143750	HUVEC	blood vessel:	n/a	n/a
13	SPI1	chr19:19143096-19143595	HL-60	blood:	n/a	n/a
14	SP1	chr19:19143104-19143619	A549	lung:	n/a	chr19:19143371-19143392
15	MXI1	chr19:19143156-19143917	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr19:19143220-19143551	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr19:19143119-19145540	GM12892	blood:	n/a	n/a
18	POLR2A	chr19:19143228-19143568	Gliobla	brain:	n/a	n/a
19	POLR2A	chr19:19143218-19143548	HUVEC	blood vessel:	n/a	n/a
20	MAZ	chr19:19143118-19145494	IMR90	lung:	n/a	chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144728
21	NFATC1	chr19:19143207-19143680	GM12878	blood:	n/a	n/a
22	SP1	chr19:19143146-19143642	GM12878	blood:	n/a	chr19:19143371-19143392
23	POLR2A	chr19:19143139-19144841	ECC-1	luminal epithelium:	n/a	n/a
24	SIN3AK20	chr19:19143226-19143561	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr19:19143152-19145429	HL-60	blood:	n/a	n/a
26	MAX	chr19:19143099-19145562	HCT-116	colon:	n/a	chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144728
27	POLR2A	chr19:19143120-19145419	GM12878	blood:	n/a	n/a
28	POU2F2	chr19:19143099-19143636	GM12878	blood:	n/a	n/a
29	POLR2A	chr19:19143066-19145439	K562	blood:	n/a	n/a
30	PBX3	chr19:19143103-19143721	SK-N-SH	brain:	n/a	chr19:19143358-19143378
31	POLR2A	chr19:19143103-19145471	GM12891	blood:	n/a	n/a
32	SIN3AK20	chr19:19143090-19144271	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr19:19143133-19143730	GM12878	blood:	n/a	n/a
34	POLR2A	chr19:19142600-19144078	SK-N-MC	brain:	n/a	n/a
35	TAF1	chr19:19143216-19143637	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr19:19143228-19143640	U87	brain:	n/a	n/a
37	NFYA	chr19:19143169-19143595	K562	blood:	n/a	chr19:19143370-19143385 chr19:19143370-19143385 chr19:19143370-19143384 chr19:19143369-19143381
38	SP1	chr19:19143120-19143655	H1-hESC	embryonic stem cell:	n/a	chr19:19143371-19143392
39	NFYB	chr19:19143231-19143607	GM12878	blood:	n/a	chr19:19143370-19143385 chr19:19143370-19143385 chr19:19143370-19143384 chr19:19143369-19143381
40	KAP1	chr19:19143150-19143614	U2OS	brain:	n/a	n/a
41	SP4	chr19:19143161-19143667	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr19:19143144-19143600	GM12878	blood:	n/a	n/a
43	CREB1	chr19:19143182-19143606	H1-hESC	embryonic stem cell:	n/a	n/a
44	REST	chr19:19143002-19145431	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr19:19142824-19145466	PFSK-1	brain:	n/a	n/a
46	PBX3	chr19:19143222-19143504	GM12878	blood:	n/a	chr19:19143358-19143378
47	POLR2A	chr19:19143093-19145559	K562	blood:	n/a	n/a
48	POLR2A	chr19:19143190-19144828	GM12891	blood:	n/a	n/a
49	POLR2A	chr19:19143161-19144853	GM12878	blood:	n/a	n/a
50	SP1	chr19:19143116-19143568	GM12878	blood:	n/a	chr19:19143371-19143392

No.	Distal block	Cell Line	Cell type
1	chr19:19141992..19145825-chr19:19171077..19177701,15	K562	blood:
2	chr19:19140364..19142501-chr19:19142973..19144893,2	MCF-7	breast:
3	chr19:19142905..19145164-chr19:19230033..19232752,3	K562	blood:
4	chr19:19142872..19145120-chr19:19247673..19249634,2	K562	blood:
5	chr19:19029521..19031208-chr19:19142280..19143902,2	K562	blood:
6	chr19:19141992..19145925-chr19:19172787..19177854,10	K562	blood:
7	chr19:19028019..19031021-chr19:19142402..19146031,5	K562	blood:
8	chr19:19142422..19145596-chr19:19300959..19304249,3	K562	blood:

Variant related genes	Relation type
ARMC6	TF binding region
SUGP2	TF binding region
ENSG00000105669	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000064489	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000064607	Chromatin interaction
ENSG00000181035	Chromatin interaction
ENSG00000064545	Chromatin interaction
ENSG00000213999	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	esv3362167	chr19:19143102-19145750	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19126400-19143400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:19139600-19143400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:19139800-19143400	Weak transcription	Aorta	Aorta
4	chr19:19140000-19143400	Weak transcription	Esophagus	oesophagus
5	chr19:19141800-19143400	Enhancers	Fetal Brain Male	brain
6	chr19:19142000-19143400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:19142000-19143400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:19142000-19143400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:19142400-19143400	Enhancers	Placenta	Placenta
10	chr19:19142400-19143800	Enhancers	Spleen	Spleen
11	chr19:19142600-19143400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr19:19142600-19143400	Enhancers	Primary B cells from peripheral blood	blood
13	chr19:19142600-19143400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:19142600-19143600	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr19:19142800-19143400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr19:19142800-19143400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr19:19142800-19143400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:19142800-19143400	Enhancers	Lung	lung
19	chr19:19142800-19143400	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr19:19142800-19143400	Enhancers	Stomach Mucosa	stomach
21	chr19:19142800-19143400	Flanking Active TSS	Thymus	Thymus
22	chr19:19142800-19143600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr19:19142800-19143600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr19:19142800-19143800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr19:19142800-19143800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:19142800-19143800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr19:19142800-19143800	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr19:19142800-19143800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:19142800-19143800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr19:19142800-19144000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr19:19142800-19144000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr19:19142800-19144000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:19142800-19144000	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr19:19142800-19144000	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr19:19142800-19144000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr19:19142800-19144000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr19:19142800-19144200	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr19:19142800-19145200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:19142800-19145400	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr19:19142800-19145400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:19142800-19145400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:19143000-19143400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr19:19143000-19143400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr19:19143000-19143400	Enhancers	Pancreas	Pancrea
45	chr19:19143000-19143400	Flanking Active TSS	Dnd41	blood
46	chr19:19143000-19143400	Flanking Active TSS	HepG2	liver
47	chr19:19143000-19143600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr19:19143000-19143600	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr19:19143000-19143600	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr19:19143000-19143600	Flanking Active TSS	Brain Substantia Nigra	brain

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