Variant report

Variant	rs544505939
Chromosome Location	chr19:41283132-41283133
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:205)
CpG islands
(count:61)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:205 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr19:41282893-41284391	GM12878	blood:	n/a	chr19:41283206-41283222 chr19:41284255-41284271
2	TEAD4	chr19:41282840-41284622	K562	blood:	n/a	n/a
3	NR2F2	chr19:41283041-41285265	K562	blood:	n/a	n/a
4	EBF1	chr19:41282826-41284228	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:41282824-41285023	GM12878	blood:	n/a	n/a
6	PAX5	chr19:41283032-41283466	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:41283024-41284454	GM12891	blood:	n/a	n/a
8	CEBPB	chr19:41282770-41283918	GM12878	blood:	n/a	chr19:41283651-41283659
9	POLR2A	chr19:41283077-41284413	GM10847	blood:	n/a	n/a
10	TCF12	chr19:41282996-41283423	GM12878	blood:	n/a	n/a
11	REST	chr19:41282716-41283908	A549	lung:	n/a	chr19:41283403-41283412
12	HEY1	chr19:41283131-41284814	HepG2	liver:	n/a	chr19:41284233-41284248 chr19:41284130-41284145 chr19:41284232-41284247
13	ZC3H11A	chr19:41283054-41283950	K562	blood:	n/a	n/a
14	FOXM1	chr19:41282787-41284249	GM12878	blood:	n/a	n/a
15	NFATC1	chr19:41282905-41283956	GM12878	blood:	n/a	n/a
16	ARID3A	chr19:41282972-41283984	HepG2	liver:	n/a	n/a
17	MEF2A	chr19:41282958-41283883	GM12878	blood:	n/a	chr19:41283669-41283686
18	POLR2A	chr19:41283125-41283429	GM12878	blood:	n/a	n/a
19	EP300	chr19:41283001-41283937	GM12878	blood:	n/a	chr19:41283206-41283222
20	MAZ	chr19:41283091-41284792	K562	blood:	n/a	n/a
21	POLR2A	chr19:41282793-41284992	H1-hESC	embryonic stem cell:	n/a	n/a
22	RUNX3	chr19:41282646-41285107	GM12878	blood:	n/a	n/a
23	STAT1	chr19:41283046-41284778	GM12878	blood:	n/a	chr19:41283681-41283704
24	RCOR1	chr19:41282761-41284733	GM12878	blood:	n/a	n/a
25	BHLHE40	chr19:41283062-41284796	K562	blood:	n/a	n/a
26	MXI1	chr19:41282747-41285282	IMR90	lung:	n/a	n/a
27	POLR2A	chr19:41282921-41284953	GM12892	blood:	n/a	n/a
28	POLR2A	chr19:41282937-41284819	GM12892	blood:	n/a	n/a
29	WRNIP1	chr19:41282893-41283901	GM12878	blood:	n/a	n/a
30	MAX	chr19:41283054-41284669	NB4	blood:	n/a	n/a
31	POLR2A	chr19:41282976-41283628	HL-60	blood:	n/a	n/a
32	RUNX3	chr19:41282787-41284935	GM12878	blood:	n/a	n/a
33	POU2F2	chr19:41282807-41284930	GM12878	blood:	n/a	chr19:41283177-41283187 chr19:41283177-41283187 chr19:41283849-41283861 chr19:41283179-41283186 chr19:41283176-41283188 chr19:41283178-41283187 chr19:41283176-41283190 chr19:41283849-41283863 chr19:41283179-41283187 chr19:41283178-41283188 chr19:41283178-41283189 chr19:41283175-41283190 chr19:41283178-41283189
34	MTA3	chr19:41282604-41285252	GM12878	blood:	n/a	n/a
35	MYC	chr19:41283031-41284408	NB4	blood:	n/a	n/a
36	POLR2A	chr19:41283024-41284895	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr19:41283062-41284583	A549	lung:	n/a	n/a
38	SPI1	chr19:41283088-41283479	GM12878	blood:	n/a	n/a
39	TCF3	chr19:41282969-41283385	GM12878	blood:	n/a	n/a
40	RFX5	chr19:41282710-41285139	HepG2	liver:	n/a	chr19:41283514-41283523 chr19:41283511-41283525 chr19:41283651-41283660 chr19:41283510-41283525
41	TCF7L2	chr19:41283006-41283940	Hela-S3	cervix:	n/a	n/a
42	MAX	chr19:41282942-41284376	GM12878	blood:	n/a	n/a
43	NFYA	chr19:41283094-41284293	GM12878	blood:	n/a	chr19:41283980-41283992 chr19:41284032-41284050 chr19:41283981-41283996
44	POLR2A	chr19:41283024-41285117	PFSK-1	brain:	n/a	n/a
45	BCLAF1	chr19:41282905-41283981	GM12878	blood:	n/a	chr19:41283403-41283412
46	TCF12	chr19:41282989-41283463	GM12878	blood:	n/a	n/a
47	TAF1	chr19:41282964-41285167	H1-hESC	embryonic stem cell:	n/a	n/a
48	RCOR1	chr19:41282952-41284694	Hela-S3	cervix:	n/a	n/a
49	TAF1	chr19:41283075-41284847	H1-neurons	neurons:	n/a	n/a
50	SMC3	chr19:41282996-41283820	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41283090-41283140	IMR90	lung:	fetal
2	chr19:41283090-41283140	NB4	blood:	n/a
3	chr19:41283090-41283140	K562	blood:	n/a
4	chr19:41283090-41283140	PANC-1	pancreas:	n/a
5	chr19:41283090-41283140	ProgFib	skin:	n/a
6	chr19:41283090-41283140	GM12878	blood:	n/a
7	chr19:41283090-41283140	HEK293	kidney:	embryo
8	chr19:41283090-41283140	HRCEpiC	kidney:	n/a
9	chr19:41283090-41283140	U87	brain:	n/a
10	chr19:41283090-41283140	AG04450	lung:	fetal
11	chr19:41283090-41283140	SK-N-MC	brain:	n/a
12	chr19:41283090-41283140	HIPEpiC	eye:	n/a
13	chr19:41283090-41283140	NHDF-neo	bronchial:	n/a
14	chr19:41283090-41283140	T-47D	breast:	n/a
15	chr19:41283090-41283140	HCM	heart:	n/a
16	chr19:41283090-41283140	AG09319	gingival:	n/a
17	chr19:41283090-41283140	HEEpiC	esophagus:	n/a
18	chr19:41283090-41283140	GM12892	blood:	n/a
19	chr19:41283090-41283140	H1-hESC	embryonic stem cell:	embryo
20	chr19:41283090-41283140	SK-N-SH_RA	brain:	n/a
21	chr19:41283090-41283140	HCF	heart:	n/a
22	chr19:41283090-41283140	SKMC	muscle:	n/a
23	chr19:41283090-41283140	CMK	blood:	n/a
24	chr19:41283090-41283140	GM06990	blood:	n/a
25	chr19:41283090-41283140	HRPEpiC	eye:	n/a
26	chr19:41283090-41283140	NT2-D1	testis:	n/a
27	chr19:41283090-41283140	NHBE	bronchial:	n/a
28	chr19:41283090-41283140	HL-60	blood:	n/a
29	chr19:41283090-41283140	HRE	kidney:	n/a
30	chr19:41283090-41283140	AG04449	skin:	fetal
31	chr19:41283090-41283140	AoSMC	blood vessel:	n/a
32	chr19:41283090-41283140	SAEC	small airway:	n/a
33	chr19:41283090-41283140	HepG2	liver:	n/a
34	chr19:41283090-41283140	HAEpiC	amniotic membrane:	n/a
35	chr19:41283090-41283140	GM12891	blood:	n/a
36	chr19:41283090-41283140	SK-N-SH	brain:	n/a
37	chr19:41283090-41283140	LNCaP	prostate:	n/a
38	chr19:41283090-41283140	HCT-116	colon:	n/a
39	chr19:41283090-41283140	BJ	skin:	n/a
40	chr19:41283090-41283140	GM19239	blood:	n/a
41	chr19:41283090-41283140	A549	lung:	n/a
42	chr19:41283090-41283140	ovcar-3	ovarian:	n/a
43	chr19:41283090-41283140	MCF10A-Er-Src	breast:	n/a
44	chr19:41283090-41283140	ECC-1	luminal epithelium:	n/a
45	chr19:41283090-41283140	PrEC	prostate:	n/a
46	chr19:41283090-41283140	HPAEpiC	pulmonary alveolar:	n/a
47	chr19:41283090-41283140	HCPEpiC	choroid plexus:	n/a
48	chr19:41283090-41283140	HMEC	breast:	n/a
49	chr19:41283090-41283140	PFSK-1	brain:	n/a
50	chr19:41283090-41283140	Hepatocyte	liver:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41282962..41284842-chr19:41308232..41310693,2	MCF-7	breast:
2	chr19:41260700..41263624-chr19:41281746..41284711,4	K562	blood:
3	chr19:41254354..41258983-chr19:41282435..41286100,11	MCF-7	breast:
4	chr19:41254259..41260312-chr19:41280225..41287427,15	K562	blood:
5	chr19:41280553..41283413-chr19:41284684..41288209,4	MCF-7	breast:
6	chr19:41260895..41264688-chr19:41281653..41284501,3	MCF-7	breast:
7	chr19:41219466..41223288-chr19:41281896..41285456,5	MCF-7	breast:
8	chr19:41220807..41223667-chr19:41282098..41285361,4	MCF-7	breast:
9	chr19:41276921..41279823-chr19:41282678..41284570,2	MCF-7	breast:
10	chr19:41282306..41285368-chr19:41311943..41315414,5	MCF-7	breast:
11	chr19:41280805..41286068-chr19:41308324..41316733,13	K562	blood:
12	chr19:41221538..41223321-chr19:41282786..41284711,2	K562	blood:
13	chr14:102505039..102506720-chr19:41282932..41285736,2	MCF-7	breast:
14	chr19:41282175..41285758-chr19:41311471..41315456,8	K562	blood:
15	chr19:41246510..41248162-chr19:41281990..41283890,2	K562	blood:
16	chr19:41280731..41296556-chr19:41299561..41307605,30	MCF-7	breast:
17	chr19:41282692..41284743-chr19:41312820..41314498,2	MCF-7	breast:
18	chr19:41195631..41198231-chr19:41282908..41284681,3	K562	blood:
19	chr19:41253800..41258892-chr19:41281807..41286457,14	MCF-7	breast:
20	chr19:41281732..41286442-chr19:41302482..41306628,13	K562	blood:
21	chr19:41274845..41278396-chr19:41279079..41284996,6	K562	blood:
22	chr19:41220672..41223321-chr19:41282772..41284711,3	K562	blood:
23	chr19:41254259..41259402-chr19:41281476..41286314,17	K562	blood:
24	chr19:41281718..41286533-chr19:41301356..41311124,20	K562	blood:

No data

Variant related genes	Relation type
RAB4B	TF binding region
RAB4B-EGLN2	TF binding region
RAB4B	CpG island
RAB4B-EGLN2	CpG island
ENSG00000077312	Chromatin interaction
ENSG00000167578	Chromatin interaction
ENSG00000105245	Chromatin interaction
ENSG00000197102	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000171570	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000086544	Chromatin interaction
ENSG00000268797	Chromatin interaction
ENSG00000261857	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802033	chr19:41256131-41284240	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases
2	esv1801805	chr19:41256581-41284363	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
3	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv13500	chr19:41283063-41285263	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41260800-41283200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:41273400-41283200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:41273400-41283600	Weak transcription	Lung	lung
4	chr19:41281400-41283200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:41282400-41283200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr19:41282400-41283200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr19:41282600-41283200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:41282600-41283200	Flanking Active TSS	GM12878-XiMat	blood
9	chr19:41282600-41283400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr19:41282600-41283400	Enhancers	Spleen	Spleen
11	chr19:41282600-41283400	Flanking Active TSS	Dnd41	blood
12	chr19:41282600-41283400	Flanking Active TSS	HMEC	breast
13	chr19:41282800-41283200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
14	chr19:41282800-41283200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:41282800-41283200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:41282800-41283200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr19:41282800-41283200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr19:41282800-41283200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr19:41282800-41283200	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr19:41282800-41283200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr19:41282800-41283200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:41282800-41283200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:41282800-41283200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr19:41282800-41283200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:41282800-41283200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:41282800-41283200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:41282800-41283200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:41282800-41283200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:41282800-41283200	Enhancers	Aorta	Aorta
30	chr19:41282800-41283200	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr19:41282800-41283200	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr19:41282800-41283200	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr19:41282800-41283200	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr19:41282800-41283200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr19:41282800-41283200	Enhancers	Esophagus	oesophagus
36	chr19:41282800-41283200	Flanking Active TSS	Fetal Lung	lung
37	chr19:41282800-41283200	Enhancers	Gastric	stomach
38	chr19:41282800-41283200	Enhancers	Pancreas	Pancrea
39	chr19:41282800-41283200	Enhancers	Psoas Muscle	Psoas
40	chr19:41282800-41283200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr19:41282800-41283200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr19:41282800-41283200	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr19:41282800-41283200	Enhancers	Stomach Mucosa	stomach
44	chr19:41282800-41283200	Flanking Active TSS	HSMM	muscle
45	chr19:41282800-41283200	Flanking Active TSS	HSMMtube	muscle
46	chr19:41282800-41283200	Flanking Active TSS	NHDF-Ad	bronchial
47	chr19:41282800-41283400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:41282800-41283400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr19:41282800-41283400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr19:41282800-41283400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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