Variant report

Variant	rs560961950
Chromosome Location	chr19:41284114-41284115
allele	A/C
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	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	HEY1	chr19:41284110-41284400	HepG2	liver:	n/a	chr19:41284233-41284248 chr19:41284130-41284145 chr19:41284232-41284247
5	EBF1	chr19:41282826-41284228	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:41282824-41285023	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:41283024-41284454	GM12891	blood:	n/a	n/a
8	POLR2A	chr19:41283667-41284589	MCF-7	breast:	n/a	n/a
9	SRF	chr19:41283829-41284278	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:41283077-41284413	GM10847	blood:	n/a	n/a
11	POLR2A	chr19:41283144-41284860	K562	blood:	n/a	n/a
12	UBTF	chr19:41283811-41284327	K562	blood:	n/a	n/a
13	NFYB	chr19:41283168-41284690	Hela-S3	cervix:	n/a	chr19:41283980-41283992 chr19:41283981-41283996
14	MYC	chr19:41283909-41284281	MCF10A-Er-Src	breast:	n/a	n/a
15	HEY1	chr19:41283131-41284814	HepG2	liver:	n/a	chr19:41284233-41284248 chr19:41284130-41284145 chr19:41284232-41284247
16	POLR2A	chr19:41283262-41284653	PANC-1	pancreas:	n/a	n/a
17	HDAC2	chr19:41283990-41284355	HepG2	liver:	n/a	n/a
18	PBX3	chr19:41283560-41284991	A549	lung:	n/a	chr19:41283827-41283836 chr19:41283651-41283660
19	USF1	chr19:41283882-41284252	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr19:41284040-41284190	HCM	heart:	n/a	chr19:41284056-41284069
21	FOXM1	chr19:41282787-41284249	GM12878	blood:	n/a	n/a
22	SPI1	chr19:41283940-41284312	GM12878	blood:	n/a	n/a
23	TAF1	chr19:41283666-41284332	GM12892	blood:	n/a	n/a
24	YY1	chr19:41283524-41284990	A549	lung:	n/a	chr19:41284243-41284265 chr19:41284226-41284240 chr19:41284241-41284258 chr19:41284237-41284246 chr19:41284242-41284254 chr19:41284382-41284391 chr19:41284235-41284246 chr19:41284143-41284152
25	CTCF	chr19:41284100-41284250	NHDF-neo	bronchial:	n/a	n/a
26	USF1	chr19:41283926-41284199	HepG2	liver:	n/a	n/a
27	CHD2	chr19:41283453-41284339	K562	blood:	n/a	n/a
28	MAZ	chr19:41283091-41284792	K562	blood:	n/a	n/a
29	CREB1	chr19:41283296-41284366	ECC-1	luminal epithelium:	n/a	n/a
30	SP1	chr19:41283683-41284666	K562	blood:	n/a	chr19:41284001-41284013 chr19:41284602-41284611 chr19:41284139-41284151 chr19:41284383-41284392 chr19:41284360-41284369 chr19:41284381-41284393 chr19:41284378-41284392 chr19:41284052-41284064 chr19:41284359-41284371 chr19:41284002-41284016 chr19:41284382-41284392 chr19:41284601-41284611 chr19:41284002-41284012 chr19:41284383-41284392 chr19:41283866-41283875 chr19:41284003-41284012 chr19:41284053-41284062 chr19:41284356-41284370 chr19:41284007-41284014 chr19:41284002-41284011 chr19:41284382-41284391 chr19:41284600-41284612 chr19:41284600-41284612 chr19:41284052-41284064 chr19:41284602-41284611 chr19:41284361-41284370 chr19:41284002-41284012 chr19:41284053-41284067 chr19:41284001-41284012 chr19:41284601-41284611 chr19:41284181-41284195 chr19:41284001-41284013 chr19:41284136-41284150 chr19:41284360-41284370 chr19:41284140-41284149 chr19:41284359-41284371 chr19:41284381-41284393 chr19:41284139-41284151 chr19:41284597-41284611 chr19:41284382-41284392 chr19:41284002-41284011 chr19:41284054-41284063 chr19:41284601-41284610
31	SPI1	chr19:41284024-41284284	K562	blood:	n/a	n/a
32	POLR2A	chr19:41282793-41284992	H1-hESC	embryonic stem cell:	n/a	n/a
33	SIN3AK20	chr19:41284028-41284417	K562	blood:	n/a	n/a
34	RUNX3	chr19:41282646-41285107	GM12878	blood:	n/a	n/a
35	STAT1	chr19:41283046-41284778	GM12878	blood:	n/a	chr19:41283681-41283704
36	CEBPZ	chr19:41283487-41284162	HepG2	liver:	n/a	n/a
37	RCOR1	chr19:41282761-41284733	GM12878	blood:	n/a	n/a
38	SPI1	chr19:41284000-41284261	GM12891	blood:	n/a	n/a
39	BHLHE40	chr19:41283062-41284796	K562	blood:	n/a	n/a
40	MXI1	chr19:41282747-41285282	IMR90	lung:	n/a	n/a
41	POLR2A	chr19:41282921-41284953	GM12892	blood:	n/a	n/a
42	ZMIZ1	chr19:41283520-41284619	K562	blood:	n/a	n/a
43	UBTF	chr19:41284060-41284351	K562	blood:	n/a	n/a
44	POLR2A	chr19:41283714-41284340	Gliobla	brain:	n/a	n/a
45	POLR2A	chr19:41282937-41284819	GM12892	blood:	n/a	n/a
46	MAX	chr19:41283054-41284669	NB4	blood:	n/a	n/a
47	RUNX3	chr19:41282787-41284935	GM12878	blood:	n/a	n/a
48	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
49	MYC	chr19:41283560-41284418	K562	blood:	n/a	n/a
50	SIN3AK20	chr19:41283855-41284375	PANC-1	pancreas:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41284070-41284120	HepG2	liver:	n/a
2	chr19:41284070-41284120	HRCEpiC	kidney:	n/a
3	chr19:41284070-41284120	GM12892	blood:	n/a
4	chr19:41284070-41284120	MCF-7	breast:	n/a
5	chr19:41284070-41284120	HEK293	kidney:	embryo
6	chr19:41284070-41284120	T-47D	breast:	n/a
7	chr19:41284070-41284120	U87	brain:	n/a
8	chr19:41284070-41284120	ProgFib	skin:	n/a
9	chr19:41284070-41284120	GM19239	blood:	n/a
10	chr19:41284070-41284120	H1-hESC	embryonic stem cell:	embryo
11	chr19:41284070-41284120	AG09319	gingival:	n/a
12	chr19:41284070-41284120	NT2-D1	testis:	n/a
13	chr19:41284070-41284120	Jurkat	blood:	n/a
14	chr19:41284070-41284120	AoSMC	blood vessel:	n/a
15	chr19:41284070-41284120	HMEC	breast:	n/a
16	chr19:41284070-41284120	SAEC	small airway:	n/a
17	chr19:41284070-41284120	SKMC	muscle:	n/a
18	chr19:41284070-41284120	HRPEpiC	eye:	n/a
19	chr19:41284070-41284120	CMK	blood:	n/a
20	chr19:41284070-41284120	RPTEC	kidney:	n/a
21	chr19:41284070-41284120	K562	blood:	n/a
22	chr19:41284070-41284120	HUVEC	blood vessel:	n/a
23	chr19:41284070-41284120	A549	lung:	n/a
24	chr19:41284070-41284120	AG04450	lung:	fetal
25	chr19:41284070-41284120	HCM	heart:	n/a
26	chr19:41284070-41284120	NHDF-neo	bronchial:	n/a
27	chr19:41284070-41284120	PrEC	prostate:	n/a
28	chr19:41284070-41284120	SK-N-SH_RA	brain:	n/a
29	chr19:41284070-41284120	HPAEpiC	pulmonary alveolar:	n/a
30	chr19:41284070-41284120	HNPCEpiC	eye:	n/a
31	chr19:41284070-41284120	HCT-116	colon:	n/a
32	chr19:41284070-41284120	Hela-S3	cervix:	n/a
33	chr19:41284070-41284120	HCPEpiC	choroid plexus:	n/a
34	chr19:41284070-41284120	IMR90	lung:	fetal
35	chr19:41284070-41284120	Caco-2	colon:	n/a
36	chr19:41284070-41284120	ovcar-3	ovarian:	n/a
37	chr19:41284070-41284120	AG09309	skin:	n/a
38	chr19:41284070-41284120	PFSK-1	brain:	n/a
39	chr19:41284070-41284120	LNCaP	prostate:	n/a
40	chr19:41284070-41284120	NH-A	brain:	n/a
41	chr19:41284070-41284120	ECC-1	luminal epithelium:	n/a
42	chr19:41284070-41284120	GM12878	blood:	n/a
43	chr19:41284070-41284120	PANC-1	pancreas:	n/a
44	chr19:41284070-41284120	HRE	kidney:	n/a
45	chr19:41284070-41284120	SK-N-MC	brain:	n/a
46	chr19:41284070-41284120	AG10803	skin:	n/a
47	chr19:41284070-41284120	MCF10A-Er-Src	breast:	n/a
48	chr19:41284070-41284120	SK-N-SH	brain:	n/a
49	chr19:41284070-41284120	HCF	heart:	n/a
50	chr19:41284070-41284120	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41282962..41284842-chr19:41308232..41310693,2	MCF-7	breast:
2	chr19:41195540..41197710-chr19:41283825..41285603,2	MCF-7	breast:
3	chr19:41260700..41263624-chr19:41281746..41284711,4	K562	blood:
4	chr19:41254354..41258983-chr19:41282435..41286100,11	MCF-7	breast:
5	chr19:41254259..41260312-chr19:41280225..41287427,15	K562	blood:
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	chr19:41280731..41296556-chr19:41299561..41307605,30	MCF-7	breast:
16	chr19:41282692..41284743-chr19:41312820..41314498,2	MCF-7	breast:
17	chr19:41195631..41198231-chr19:41282908..41284681,3	K562	blood:
18	chr19:41283422..41285801-chr19:41305183..41308009,2	MCF-7	breast:
19	chr19:41253800..41258892-chr19:41281807..41286457,14	MCF-7	breast:
20	chr19:41281732..41286442-chr19:41302482..41306628,13	K562	blood:
21	chr19:41283851..41288555-chr19:41290136..41292963,4	MCF-7	breast:
22	chr19:41274845..41278396-chr19:41279079..41284996,6	K562	blood:
23	chr19:41220672..41223321-chr19:41282772..41284711,3	K562	blood:
24	chr19:41254259..41259402-chr19:41281476..41286314,17	K562	blood:
25	chr19:41281718..41286533-chr19:41301356..41311124,20	K562	blood:

Variant related genes	Relation type
RAB4B-EGLN2	TF binding region
RAB4B	TF binding region
RAB4B-EGLN2	CpG island
RAB4B	CpG island
ENSG00000123815	Chromatin interaction
ENSG00000077312	Chromatin interaction
ENSG00000268797	Chromatin interaction
ENSG00000261857	Chromatin interaction
ENSG00000197102	Chromatin interaction
ENSG00000105245	Chromatin interaction
ENSG00000167578	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000086544	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41282800-41285000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:41282800-41285200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr19:41282800-41285400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:41283000-41284800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr19:41283000-41285000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr19:41283000-41285200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr19:41283000-41285200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:41283000-41285200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:41283000-41285200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:41283000-41285400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr19:41283000-41285400	Active TSS	H9 Cell Line	embryonic stem cell
12	chr19:41283000-41285400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:41283000-41285400	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr19:41283200-41284200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:41283200-41284400	Active TSS	Monocytes-CD14+_RO01746	blood
16	chr19:41283200-41284600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr19:41283200-41284600	Active TSS	Primary B cells from cord blood	blood
18	chr19:41283200-41284600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr19:41283200-41284600	Active TSS	Muscle Satellite Cultured Cells	--
20	chr19:41283200-41284600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr19:41283200-41284600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:41283200-41284600	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr19:41283200-41284600	Active TSS	Duodenum Mucosa	Duodenum
24	chr19:41283200-41284600	Active TSS	Esophagus	oesophagus
25	chr19:41283200-41284600	Active TSS	Fetal Intestine Small	intestine
26	chr19:41283200-41284600	Active TSS	Gastric	stomach
27	chr19:41283200-41284600	Active TSS	Pancreas	Pancrea
28	chr19:41283200-41284600	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr19:41283200-41284600	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr19:41283200-41284600	Active TSS	Rectal Smooth Muscle	rectum
31	chr19:41283200-41284600	Active TSS	Right Ventricle	heart
32	chr19:41283200-41284600	Active TSS	Small Intestine	intestine
33	chr19:41283200-41284600	Active TSS	Stomach Mucosa	stomach
34	chr19:41283200-41284800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:41283200-41284800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr19:41283200-41284800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:41283200-41284800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr19:41283200-41284800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:41283200-41284800	Active TSS	Brain Angular Gyrus	brain
40	chr19:41283200-41284800	Active TSS	Brain Hippocampus Middle	brain
41	chr19:41283200-41284800	Active TSS	Brain Substantia Nigra	brain
42	chr19:41283200-41284800	Active TSS	Colonic Mucosa	Colon
43	chr19:41283200-41284800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr19:41283200-41284800	Active TSS	Fetal Kidney	kidney
45	chr19:41283200-41284800	Active TSS	Fetal Lung	lung
46	chr19:41283200-41284800	Active TSS	Left Ventricle	heart
47	chr19:41283200-41284800	Active TSS	Right Atrium	heart
48	chr19:41283200-41284800	Active TSS	HSMMtube	muscle
49	chr19:41283200-41284800	Active TSS	NH-A	brain
50	chr19:41283200-41285000	Active TSS	H1 Cell Line	embryonic stem cell

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