Variant report

Variant	rs62121152
Chromosome Location	chr19:18208391-18208392
allele	G/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	ZNF143	chr19:18208211-18208805	GM12878	blood:	n/a	chr19:18208457-18208475 chr19:18208479-18208497
2	USF1	chr19:18208346-18208671	A549	lung:	n/a	n/a
3	USF1	chr19:18208263-18208695	SK-N-SH_RA	brain:	n/a	n/a
4	USF1	chr19:18208342-18208612	HepG2	liver:	n/a	n/a
5	RCOR1	chr19:18208215-18208427	GM12878	blood:	n/a	n/a
6	MAX	chr19:18208262-18208845	K562	blood:	n/a	chr19:18208455-18208465
7	USF1	chr19:18208280-18208771	K562	blood:	n/a	n/a
8	USF2	chr19:18208368-18208609	Hela-S3	cervix:	n/a	n/a
9	YY1	chr19:18208368-18208760	HepG2	liver:	n/a	chr19:18208670-18208684 chr19:18208457-18208466
10	MAZ	chr19:18208296-18208539	HepG2	liver:	n/a	chr19:18208455-18208465
11	USF1	chr19:18208221-18208774	SK-N-SH	brain:	n/a	n/a
12	USF1	chr19:18208214-18208719	K562	blood:	n/a	n/a
13	RCOR1	chr19:18208269-18208404	Hela-S3	cervix:	n/a	n/a
14	USF1	chr19:18208277-18208730	SK-N-SH	brain:	n/a	n/a
15	ZNF143	chr19:18208190-18208522	K562	blood:	n/a	chr19:18208457-18208475 chr19:18208479-18208497
16	ELF1	chr19:18208288-18208766	GM12878	blood:	n/a	chr19:18208670-18208682
17	MAZ	chr19:18208367-18210457	GM12878	blood:	n/a	chr19:18208455-18208465 chr19:18210144-18210154
18	SP1	chr19:18208296-18208730	GM12878	blood:	n/a	chr19:18208489-18208499 chr19:18208434-18208443 chr19:18208458-18208467 chr19:18208433-18208442 chr19:18208712-18208724 chr19:18208713-18208722 chr19:18208709-18208723 chr19:18208457-18208467 chr19:18208456-18208468 chr19:18208429-18208443 chr19:18208490-18208499 chr19:18208434-18208443 chr19:18208490-18208499 chr19:18208457-18208467 chr19:18208456-18208468 chr19:18208485-18208499 chr19:18208433-18208443 chr19:18208453-18208467 chr19:18208713-18208723 chr19:18208714-18208723 chr19:18208432-18208444 chr19:18208457-18208466 chr19:18208489-18208498 chr19:18208714-18208723 chr19:18208489-18208499 chr19:18208488-18208500 chr19:18208433-18208443 chr19:18208712-18208724 chr19:18208713-18208723 chr19:18208432-18208444 chr19:18208488-18208500 chr19:18208458-18208467
19	POLR2A	chr19:18208382-18208852	HCT-116	colon:	n/a	n/a
20	USF1	chr19:18208339-18208628	HepG2	liver:	n/a	n/a
21	POLR2A	chr19:18208369-18208968	GM12892	blood:	n/a	n/a
22	EGR1	chr19:18208303-18208986	K562	blood:	n/a	chr19:18208452-18208465 chr19:18208873-18208884 chr19:18208872-18208886 chr19:18208457-18208467 chr19:18208455-18208465 chr19:18208566-18208580 chr19:18208873-18208884
23	CHD2	chr19:18208382-18208695	Hela-S3	cervix:	n/a	n/a
24	RCOR1	chr19:18208190-18208422	K562	blood:	n/a	n/a
25	POLR2A	chr19:18208316-18210666	GM19193	blood:	n/a	n/a
26	RCOR1	chr19:18208047-18209339	IMR90	lung:	n/a	n/a
27	POLR2A	chr19:18208206-18210595	GM12892	blood:	n/a	n/a
28	POLR2A	chr19:18208270-18210693	Raji	blood:	n/a	n/a
29	USF1	chr19:18208376-18208657	GM12878	blood:	n/a	n/a
30	ELF1	chr19:18208379-18208798	K562	blood:	n/a	chr19:18208670-18208682
31	EGR1	chr19:18208250-18209010	K562	blood:	n/a	chr19:18208452-18208465 chr19:18208873-18208884 chr19:18208872-18208886 chr19:18208457-18208467 chr19:18208455-18208465 chr19:18208566-18208580 chr19:18208873-18208884
32	NFYB	chr19:18208322-18208729	GM12878	blood:	n/a	chr19:18208520-18208532
33	ZEB1	chr19:18208383-18209034	GM12878	blood:	n/a	n/a
34	USF2	chr19:18208341-18208791	GM12878	blood:	n/a	n/a
35	IRF1	chr19:18208271-18208788	K562	blood:	n/a	chr19:18208456-18208470 chr19:18208432-18208446 chr19:18208488-18208502 chr19:18208712-18208726
36	USF1	chr19:18208349-18208619	GM12878	blood:	n/a	n/a
37	USF1	chr19:18208286-18208683	SK-N-SH_RA	brain:	n/a	n/a
38	POLR2A	chr19:18208314-18210936	GM12891	blood:	n/a	n/a
39	POLR2A	chr19:18208285-18210884	GM12878	blood:	n/a	n/a
40	USF2	chr19:18208333-18208628	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr19:18208280-18210655	GM18505	blood:	n/a	n/a
42	MAZ	chr19:18208279-18208864	K562	blood:	n/a	chr19:18208455-18208465
43	USF1	chr19:18208235-18208699	A549	lung:	n/a	n/a
44	RUNX3	chr19:18208233-18210938	GM12878	blood:	n/a	n/a
45	YY1	chr19:18208220-18208814	GM12878	blood:	n/a	chr19:18208670-18208684 chr19:18208457-18208466
46	RCOR1	chr19:18208233-18208434	HepG2	liver:	n/a	n/a
47	ZNF143	chr19:18208236-18208414	Hela-S3	cervix:	n/a	n/a
48	USF1	chr19:18208220-18208743	ECC-1	luminal epithelium:	n/a	n/a
49	TAF1	chr19:18208391-18208833	GM12878	blood:	n/a	n/a
50	CBX3	chr19:18208196-18208462	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18208374-18208424	A549	lung:	n/a
2	chr19:18208374-18208424	NHDF-neo	bronchial:	n/a
3	chr19:18208374-18208424	MCF-7	breast:	n/a
4	chr19:18208374-18208424	PrEC	prostate:	n/a
5	chr19:18208374-18208424	Jurkat	blood:	n/a
6	chr19:18208374-18208424	HEK293	kidney:	embryo
7	chr19:18208374-18208424	HRE	kidney:	n/a
8	chr19:18208374-18208424	LNCaP	prostate:	n/a
9	chr19:18208374-18208424	HCM	heart:	n/a
10	chr19:18208374-18208424	NB4	blood:	n/a
11	chr19:18208374-18208424	SKMC	muscle:	n/a
12	chr19:18208374-18208424	NH-A	brain:	n/a
13	chr19:18208374-18208424	AG10803	skin:	n/a
14	chr19:18208374-18208424	HCPEpiC	choroid plexus:	n/a
15	chr19:18208374-18208424	BJ	skin:	n/a
16	chr19:18208374-18208424	AG04449	skin:	fetal
17	chr19:18208374-18208424	HMEC	breast:	n/a
18	chr19:18208374-18208424	T-47D	breast:	n/a
19	chr19:18208374-18208424	SK-N-SH	brain:	n/a
20	chr19:18208374-18208424	HRCEpiC	kidney:	n/a
21	chr19:18208374-18208424	PANC-1	pancreas:	n/a
22	chr19:18208374-18208424	H1-hESC	embryonic stem cell:	embryo
23	chr19:18208374-18208424	RPTEC	kidney:	n/a
24	chr19:18208374-18208424	AG04450	lung:	fetal
25	chr19:18208374-18208424	GM06990	blood:	n/a
26	chr19:18208374-18208424	CMK	blood:	n/a
27	chr19:18208374-18208424	HEEpiC	esophagus:	n/a
28	chr19:18208374-18208424	Hela-S3	cervix:	n/a
29	chr19:18208374-18208424	ProgFib	skin:	n/a
30	chr19:18208374-18208424	BE2_C	brain:	n/a
31	chr19:18208374-18208424	HL-60	blood:	n/a
32	chr19:18208374-18208424	SAEC	small airway:	n/a
33	chr19:18208374-18208424	HIPEpiC	eye:	n/a
34	chr19:18208374-18208424	U87	brain:	n/a
35	chr19:18208374-18208424	NT2-D1	testis:	n/a
36	chr19:18208374-18208424	ovcar-3	ovarian:	n/a
37	chr19:18208374-18208424	K562	blood:	n/a
38	chr19:18208374-18208424	AG09319	gingival:	n/a
39	chr19:18208374-18208424	NHBE	bronchial:	n/a
40	chr19:18208374-18208424	HepG2	liver:	n/a
41	chr19:18208374-18208424	HRPEpiC	eye:	n/a
42	chr19:18208374-18208424	AoSMC	blood vessel:	n/a
43	chr19:18208374-18208424	HCT-116	colon:	n/a
44	chr19:18208374-18208424	Caco-2	colon:	n/a
45	chr19:18208374-18208424	MCF10A-Er-Src	breast:	n/a
46	chr19:18208374-18208424	GM12878	blood:	n/a
47	chr19:18208374-18208424	HCF	heart:	n/a
48	chr19:18208374-18208424	ECC-1	luminal epithelium:	n/a
49	chr19:18208374-18208424	HNPCEpiC	eye:	n/a
50	chr19:18208374-18208424	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr19:18207114..18212211-chr19:18216815..18222515,8	K562	blood:
2	chr19:18206855..18210303-chr19:18216702..18222515,7	K562	blood:
3	chr19:18207111..18209121-chr19:18333968..18336429,3	K562	blood:
4	chr19:18117776..18120965-chr19:18206540..18209707,3	K562	blood:
5	chr19:18207159..18210021-chr19:18495217..18497699,3	K562	blood:
6	chr19:18207464..18209881-chr19:18313864..18315972,2	MCF-7	breast:
7	chr19:18207432..18210021-chr19:18495854..18497699,2	K562	blood:
8	chr19:18207827..18209431-chr19:18390333..18393371,3	K562	blood:
9	chr19:18206801..18208746-chr19:18390259..18392773,3	K562	blood:

Variant related genes	Relation type
MAST3	TF binding region
MAST3	CpG island
ENSG00000268650	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000105643	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000099308	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12052062	0.82[EUR][1000 genomes]
rs12461029	0.82[EUR][1000 genomes]
rs60963202	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62121153	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62121154	0.85[EUR][1000 genomes]
rs62123563	0.82[EUR][1000 genomes]
rs62123564	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS 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	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	nsv470130	chr19:18047283-18234587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv833773	chr19:18152971-18302988	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv911241	chr19:18193191-18304700	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv911242	chr19:18201757-18304700	Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv911243	chr19:18206681-18283501	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv911244	chr19:18206681-18304700	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv911245	chr19:18206681-18338101	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18201000-18208400	Weak transcription	Hela-S3	cervix
2	chr19:18201600-18208600	Weak transcription	Aorta	Aorta
3	chr19:18201800-18208600	Weak transcription	Colonic Mucosa	Colon
4	chr19:18202000-18208600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:18202000-18208600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr19:18202200-18208600	Weak transcription	Spleen	Spleen
7	chr19:18202400-18208600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr19:18202600-18208600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr19:18203000-18208600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr19:18203800-18208600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:18203800-18208600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:18204400-18208400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:18204600-18208600	Weak transcription	Lung	lung
14	chr19:18204600-18208600	Weak transcription	NHDF-Ad	bronchial
15	chr19:18204800-18208600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:18204800-18208600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:18204800-18208600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:18204800-18208600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:18204800-18208600	Weak transcription	HMEC	breast
20	chr19:18204800-18208600	Weak transcription	NHEK	skin
21	chr19:18204800-18208800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr19:18204800-18208800	Weak transcription	Stomach Mucosa	stomach
23	chr19:18205800-18208600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:18205800-18208600	Weak transcription	Liver	Liver
25	chr19:18206400-18208400	Weak transcription	Thymus	Thymus
26	chr19:18207600-18208600	Enhancers	Primary B cells from peripheral blood	blood
27	chr19:18207800-18208600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr19:18207800-18208600	Enhancers	Fetal Thymus	thymus
29	chr19:18208000-18208600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr19:18208000-18208600	Enhancers	Primary B cells from cord blood	blood
31	chr19:18208000-18208600	Enhancers	Primary T cells fromperipheralblood	blood
32	chr19:18208000-18208600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr19:18208000-18208600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:18208000-18208600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr19:18208000-18208600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr19:18208000-18208600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:18208000-18208600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr19:18208000-18208600	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr19:18208000-18208600	Enhancers	Placenta	Placenta
40	chr19:18208000-18208600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr19:18208200-18208400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr19:18208200-18208400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr19:18208200-18208400	Flanking Active TSS	A549	lung
44	chr19:18208200-18208400	Flanking Active TSS	K562	blood
45	chr19:18208200-18208600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:18208200-18208600	Enhancers	Primary T cells from cord blood	blood
47	chr19:18208200-18208600	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr19:18208200-18208600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr19:18208200-18208600	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr19:18208200-18208600	Enhancers	Primary T helper cells fromperipheralblood	blood

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