Variant report

Variant	rs4251804
Chromosome Location	chr19:44174832-44174833
allele	A/G
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	EGR1	chr19:44173908-44174882	HCT-116	colon:	n/a	chr19:44174401-44174412 chr19:44174408-44174422 chr19:44174400-44174413 chr19:44174402-44174412 chr19:44174400-44174413 chr19:44174402-44174411 chr19:44174430-44174444 chr19:44174400-44174413 chr19:44174400-44174413 chr19:44174400-44174414 chr19:44174396-44174418
2	GATA3	chr19:44174068-44174899	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr19:44173975-44174885	HCT-116	colon:	n/a	n/a
4	EGR1	chr19:44173908-44174924	HCT-116	colon:	n/a	chr19:44174401-44174412 chr19:44174408-44174422 chr19:44174400-44174413 chr19:44174402-44174412 chr19:44174400-44174413 chr19:44174402-44174411 chr19:44174430-44174444 chr19:44174400-44174413 chr19:44174400-44174413 chr19:44174400-44174414 chr19:44174396-44174418
5	POLR2A	chr19:44171941-44174883	IMR90	lung:	n/a	n/a
6	RCOR1	chr19:44174001-44175019	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr19:44171191-44175131	U87	brain:	n/a	n/a
8	REST	chr19:44173949-44174856	A549	lung:	n/a	n/a
9	POLR2A	chr19:44173974-44175025	HCT-116	colon:	n/a	n/a
10	POLR2A	chr19:44171596-44174971	U87	brain:	n/a	n/a
11	MAX	chr19:44174010-44174868	Hela-S3	cervix:	n/a	chr19:44174500-44174509 chr19:44174062-44174071
12	ELF1	chr19:44174181-44174833	A549	lung:	n/a	n/a
13	TAF1	chr19:44173918-44175013	A549	lung:	n/a	n/a
14	ZNF263	chr19:44173966-44174987	HEK293-T-REx	kidney:	n/a	chr19:44174418-44174427 chr19:44174331-44174340
15	POLR2A	chr19:44173844-44175140	Hela-S3	cervix:	n/a	n/a
16	YY1	chr19:44174658-44174929	SK-N-SH_RA	brain:	n/a	chr19:44174863-44174873
17	SIX5	chr19:44172986-44175111	A549	lung:	n/a	n/a
18	FOSL2	chr19:44174129-44174837	SK-N-SH	brain:	n/a	chr19:44174500-44174508 chr19:44174498-44174510
19	POLR2A	chr19:44171723-44175211	Hela-S3	cervix:	n/a	n/a
20	SP1	chr19:44173940-44175085	A549	lung:	n/a	chr19:44174205-44174214 chr19:44174408-44174420
21	BCL3	chr19:44173938-44174893	A549	lung:	n/a	n/a
22	GATA3	chr19:44173930-44174947	A549	lung:	n/a	n/a
23	MAX	chr19:44171971-44174939	A549	lung:	n/a	chr19:44174500-44174509 chr19:44173052-44173062 chr19:44174062-44174071
24	TCF12	chr19:44172775-44175023	A549	lung:	n/a	chr19:44174885-44174893
25	ATF3	chr19:44173996-44175003	A549	lung:	n/a	chr19:44174462-44174471
26	YY1	chr19:44174191-44175031	SK-N-SH	brain:	n/a	chr19:44174463-44174477 chr19:44174863-44174873
27	CEBPB	chr19:44173981-44175176	Hela-S3	cervix:	n/a	n/a
28	FOS	chr19:44174263-44174857	HUVEC	blood vessel:	n/a	chr19:44174500-44174508 chr19:44174498-44174510 chr19:44174498-44174509
29	TFAP2C	chr19:44174127-44174881	Hela-S3	cervix:	n/a	n/a
30	SIN3AK20	chr19:44173922-44174858	HCT-116	colon:	n/a	n/a
31	FOSL2	chr19:44173967-44174985	A549	lung:	n/a	chr19:44174500-44174508 chr19:44174498-44174510
32	KAP1	chr19:44174229-44174873	U2OS	brain:	n/a	n/a
33	GATA2	chr19:44174305-44174979	HUVEC	blood vessel:	n/a	n/a
34	YY1	chr19:44174094-44175004	A549	lung:	n/a	chr19:44174463-44174477 chr19:44174863-44174873
35	MAZ	chr19:44174167-44174832	Hela-S3	cervix:	n/a	chr19:44174500-44174509
36	JUN	chr19:44174002-44174983	K562	blood:	n/a	chr19:44174500-44174508 chr19:44174498-44174510
37	TEAD4	chr19:44173895-44174894	K562	blood:	n/a	n/a
38	SP1	chr19:44173865-44175020	A549	lung:	n/a	chr19:44174205-44174214 chr19:44174408-44174420
39	CHD1	chr19:44171185-44174987	IMR90	lung:	n/a	chr19:44173083-44173093 chr19:44172656-44172666
40	POLR2A	chr19:44172719-44174926	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44170992..44175159-chr19:44257509..44260839,9	K562	blood:
2	chr19:44121491..44126230-chr19:44171612..44176113,5	K562	blood:
3	chr19:39931789..39933472-chr19:44173116..44175103,2	MCF-7	breast:
4	chr19:44172767..44174988-chr19:44257416..44259615,3	MCF-7	breast:
5	chr19:44123600..44125300-chr19:44174551..44176113,2	K562	blood:

Variant related genes	Relation type
PLAUR	TF binding region
ENSG00000131116	Chromatin interaction
ENSG00000105771	Chromatin interaction
ENSG00000196235	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2176901	1.00[AMR][1000 genomes]
rs3213336	1.00[AMR][1000 genomes]
rs3213343	1.00[AMR][1000 genomes]
rs3213358	1.00[AMR][1000 genomes]
rs3213367	1.00[AMR][1000 genomes]
rs3213383	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44171600-44175000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr19:44172200-44175600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:44172400-44175000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:44172400-44175000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr19:44172400-44175200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr19:44172400-44175600	Active TSS	Hela-S3	cervix
7	chr19:44173000-44175000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr19:44173200-44175000	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr19:44173200-44175200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr19:44173400-44175000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr19:44173400-44175000	Bivalent Enhancer	Fetal Lung	lung
12	chr19:44174000-44175000	Flanking Active TSS	HUVEC	blood vessel
13	chr19:44174000-44175000	Flanking Active TSS	NHEK	skin
14	chr19:44174200-44175000	Flanking Active TSS	HSMM	muscle
15	chr19:44174400-44175000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:44174400-44175000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr19:44174400-44175000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:44174400-44175000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr19:44174400-44175000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr19:44174400-44175000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr19:44174400-44175000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr19:44174400-44175000	Flanking Active TSS	NHLF	lung
23	chr19:44174400-44175200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:44174400-44175200	Flanking Active TSS	A549	lung
25	chr19:44174400-44175400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr19:44174400-44176200	Weak transcription	Gastric	stomach
27	chr19:44174400-44178600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr19:44174600-44175000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
29	chr19:44174600-44175000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
30	chr19:44174600-44175000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:44174600-44175000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr19:44174600-44175000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:44174600-44175000	Active TSS	Brain Cingulate Gyrus	brain
34	chr19:44174600-44175000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr19:44174600-44175000	Enhancers	Pancreas	Pancrea
36	chr19:44174600-44175000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr19:44174600-44175000	Enhancers	Rectal Smooth Muscle	rectum
38	chr19:44174600-44175000	Flanking Active TSS	Stomach Mucosa	stomach
39	chr19:44174600-44175000	Enhancers	Stomach Smooth Muscle	stomach
40	chr19:44174600-44175000	Flanking Active TSS	NHDF-Ad	bronchial
41	chr19:44174600-44175000	Flanking Active TSS	Osteobl	bone
42	chr19:44174600-44175400	Flanking Active TSS	NH-A	brain
43	chr19:44174600-44176200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr19:44174600-44178400	Weak transcription	Spleen	Spleen
45	chr19:44174600-44179200	Weak transcription	Lung	lung
46	chr19:44174800-44175000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr19:44174800-44175000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr19:44174800-44175000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr19:44174800-44175000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr19:44174800-44175000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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