Variant report

Variant	rs183029691
Chromosome Location	chr19:19143617-19143618
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	TBL1XR1	chr19:19143446-19143886	K562	blood:	n/a	n/a
2	MXI1	chr19:19142926-19145719	SK-N-SH	brain:	n/a	chr19:19144717-19144726 chr19:19144719-19144728 chr19:19144719-19144728
3	ZBTB7A	chr19:19143613-19144855	K562	blood:	n/a	chr19:19144496-19144507 chr19:19144518-19144525 chr19:19144495-19144506 chr19:19143755-19143764 chr19:19144172-19144180
4	POLR2A	chr19:19143326-19145416	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr19:19143596-19143968	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:19142191-19144083	PFSK-1	brain:	n/a	n/a
7	CHD1	chr19:19143312-19144024	GM12878	blood:	n/a	n/a
8	MAX	chr19:19143427-19143735	GM12878	blood:	n/a	n/a
9	MTA3	chr19:19143254-19144172	GM12878	blood:	n/a	n/a
10	SIN3AK20	chr19:19143146-19143813	H1-hESC	embryonic stem cell:	n/a	n/a
11	IRF1	chr19:19143278-19143830	K562	blood:	n/a	chr19:19143444-19143458
12	MAX	chr19:19143222-19143871	NB4	blood:	n/a	n/a
13	PBX3	chr19:19143099-19143726	SK-N-SH	brain:	n/a	chr19:19143358-19143378
14	POLR2A	chr19:19143230-19145419	GM12891	blood:	n/a	n/a
15	POLR2A	chr19:19143173-19143664	GM12891	blood:	n/a	n/a
16	PML	chr19:19143101-19145513	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:19143104-19143750	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr19:19143403-19145389	Hela-S3	cervix:	n/a	n/a
19	SP1	chr19:19143104-19143619	A549	lung:	n/a	chr19:19143371-19143392
20	MXI1	chr19:19143156-19143917	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr19:19143119-19145540	GM12892	blood:	n/a	n/a
22	CEBPB	chr19:19143350-19143743	K562	blood:	n/a	n/a
23	STAT5A	chr19:19143411-19143882	GM12878	blood:	n/a	n/a
24	CEBPB	chr19:19143286-19143754	IMR90	lung:	n/a	n/a
25	POLR2A	chr19:19143242-19143692	HCT-116	colon:	n/a	n/a
26	MAZ	chr19:19143118-19145494	IMR90	lung:	n/a	chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144728
27	NFATC1	chr19:19143207-19143680	GM12878	blood:	n/a	n/a
28	MYC	chr19:19143304-19145519	K562	blood:	n/a	chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144728
29	POLR2A	chr19:19143290-19145369	GM18951	blood:	n/a	n/a
30	SP1	chr19:19143146-19143642	GM12878	blood:	n/a	chr19:19143371-19143392
31	EP300	chr19:19143241-19143931	K562	blood:	n/a	n/a
32	POLR2A	chr19:19143555-19143631	ProgFib	skin:	n/a	n/a
33	POLR2A	chr19:19143139-19144841	ECC-1	luminal epithelium:	n/a	n/a
34	NRF1	chr19:19143261-19143709	H1-hESC	embryonic stem cell:	n/a	n/a
35	MXI1	chr19:19143344-19143850	K562	blood:	n/a	n/a
36	USF1	chr19:19143573-19144031	K562	blood:	n/a	chr19:19143796-19143807
37	POLR2A	chr19:19143152-19145429	HL-60	blood:	n/a	n/a
38	POLR2A	chr19:19143248-19143698	GM12892	blood:	n/a	n/a
39	MAX	chr19:19143099-19145562	HCT-116	colon:	n/a	chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144728
40	POLR2A	chr19:19143120-19145419	GM12878	blood:	n/a	n/a
41	POU2F2	chr19:19143099-19143636	GM12878	blood:	n/a	n/a
42	POLR2A	chr19:19143066-19145439	K562	blood:	n/a	n/a
43	PBX3	chr19:19143103-19143721	SK-N-SH	brain:	n/a	chr19:19143358-19143378
44	POLR2A	chr19:19143103-19145471	GM12891	blood:	n/a	n/a
45	USF1	chr19:19143571-19144028	K562	blood:	n/a	chr19:19143796-19143807
46	ZBTB7A	chr19:19143601-19144904	ECC-1	luminal epithelium:	n/a	chr19:19144496-19144507 chr19:19144518-19144525 chr19:19144495-19144506 chr19:19143755-19143764 chr19:19144172-19144180
47	BHLHE40	chr19:19143316-19145488	GM12878	blood:	n/a	chr19:19144484-19144500
48	CHD2	chr19:19143256-19143729	K562	blood:	n/a	n/a
49	SIN3AK20	chr19:19143090-19144271	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAZ	chr19:19143299-19145434	K562	blood:	n/a	chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144728

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	chr19:19143530..19144320-chr7:5632368..5632941,2	NB4	blood:
6	chr19:19029521..19031208-chr19:19142280..19143902,2	K562	blood:
7	chr19:19141992..19145925-chr19:19172787..19177854,10	K562	blood:
8	chr19:19028019..19031021-chr19:19142402..19146031,5	K562	blood:
9	chr19:19142422..19145596-chr19:19300959..19304249,3	K562	blood:

Variant related genes	Relation type
SUGP2	TF binding region
ARMC6	TF binding region
ENSG00000075618	Chromatin interaction
ENSG00000181035	Chromatin interaction
ENSG00000064545	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000213999	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000064607	Chromatin interaction
ENSG00000064489	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	chr19:19142400-19143800	Enhancers	Spleen	Spleen
2	chr19:19142800-19143800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr19:19142800-19143800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:19142800-19143800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr19:19142800-19143800	Flanking Active TSS	Brain Anterior Caudate	brain
6	chr19:19142800-19143800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:19142800-19143800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr19:19142800-19144000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr19:19142800-19144000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr19:19142800-19144000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:19142800-19144000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr19:19142800-19144000	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr19:19142800-19144000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr19:19142800-19144000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr19:19142800-19144200	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr19:19142800-19145200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:19142800-19145400	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr19:19142800-19145400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:19142800-19145400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:19143000-19143800	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr19:19143000-19143800	Flanking Active TSS	Fetal Stomach	stomach
22	chr19:19143000-19144000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr19:19143000-19144800	Active TSS	NH-A	brain
24	chr19:19143000-19145000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:19143000-19145000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:19143000-19145000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr19:19143000-19145000	Active TSS	Fetal Intestine Small	intestine
28	chr19:19143000-19145200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr19:19143000-19145400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:19143000-19145400	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr19:19143000-19145400	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr19:19143000-19145600	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr19:19143000-19145600	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr19:19143000-19145600	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr19:19143000-19145600	Active TSS	GM12878-XiMat	blood
36	chr19:19143000-19145600	Active TSS	HSMM	muscle
37	chr19:19143000-19145600	Active TSS	NHDF-Ad	bronchial
38	chr19:19143000-19145600	Active TSS	NHLF	lung
39	chr19:19143000-19146000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr19:19143200-19143800	Flanking Active TSS	Liver	Liver
41	chr19:19143200-19143800	Flanking Active TSS	Colonic Mucosa	Colon
42	chr19:19143200-19143800	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr19:19143200-19143800	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr19:19143200-19143800	Active TSS	Fetal Heart	heart
45	chr19:19143200-19143800	Flanking Active TSS	Fetal Intestine Large	intestine
46	chr19:19143200-19143800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr19:19143200-19143800	Flanking Active TSS	HUVEC	blood vessel
48	chr19:19143200-19144000	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr19:19143200-19144000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr19:19143200-19144000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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