Variant report

Variant	rs10415931
Chromosome Location	chr19:57049531-57049532
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	POLR2A	chr19:57049466-57050133	HL-60	blood:	n/a	n/a
2	MXI1	chr19:57049414-57049761	H1-hESC	embryonic stem cell:	n/a	n/a
3	SP1	chr19:57049519-57050062	H1-hESC	embryonic stem cell:	n/a	chr19:57049942-57049956 chr19:57049782-57049791 chr19:57049781-57049792 chr19:57049762-57049773 chr19:57049763-57049777
4	POLR2A	chr19:57049401-57050050	SK-N-MC	brain:	n/a	n/a
5	GABPA	chr19:57049523-57050321	SK-N-SH	brain:	n/a	chr19:57049806-57049817 chr19:57049808-57049817 chr19:57049803-57049817 chr19:57049806-57049820 chr19:57050290-57050299 chr19:57050288-57050297
6	ELF1	chr19:57049529-57050352	SK-N-SH	brain:	n/a	n/a
7	MAZ	chr19:57049495-57051243	IMR90	lung:	n/a	n/a
8	POLR2A	chr19:57049525-57050192	H1-neurons	neurons:	n/a	n/a
9	TCF12	chr19:57049206-57050178	A549	lung:	n/a	n/a
10	EP300	chr19:57049398-57050160	A549	lung:	n/a	n/a
11	POLR2A	chr19:57049481-57050044	SK-N-SH	brain:	n/a	n/a
12	SP1	chr19:57049472-57050156	A549	lung:	n/a	chr19:57049942-57049956 chr19:57049782-57049791 chr19:57049781-57049792 chr19:57049762-57049773 chr19:57049763-57049777
13	MAX	chr19:57049524-57050115	ECC-1	luminal epithelium:	n/a	n/a
14	TAF1	chr19:57049436-57049822	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr19:57049420-57050169	A549	lung:	n/a	n/a
16	SIN3A	chr19:57049510-57050118	H1-hESC	embryonic stem cell:	n/a	chr19:57049912-57049925 chr19:57049794-57049805
17	POLR2A	chr19:57049428-57049977	PFSK-1	brain:	n/a	n/a
18	ETS1	chr19:57049489-57050154	A549	lung:	n/a	chr19:57050037-57050050
19	GATA3	chr19:57049490-57050242	A549	lung:	n/a	n/a
20	GABPA	chr19:57049507-57050361	SK-N-SH	brain:	n/a	chr19:57049806-57049817 chr19:57049808-57049817 chr19:57049803-57049817 chr19:57049806-57049820 chr19:57050290-57050299 chr19:57050288-57050297
21	POLR2A	chr19:57049526-57050108	ECC-1	luminal epithelium:	n/a	n/a
22	SP1	chr19:57049470-57050553	A549	lung:	n/a	chr19:57050332-57050342 chr19:57049942-57049956 chr19:57049782-57049791 chr19:57049781-57049792 chr19:57050307-57050317 chr19:57049762-57049773 chr19:57049763-57049777
23	GABPA	chr19:57049376-57050161	A549	lung:	n/a	chr19:57049806-57049817 chr19:57049808-57049817 chr19:57049803-57049817 chr19:57049806-57049820
24	TAF1	chr19:57049487-57049971	ECC-1	luminal epithelium:	n/a	n/a
25	TAF1	chr19:57049486-57050155	H1-neurons	neurons:	n/a	n/a
26	REST	chr19:57049096-57051000	H1-neurons	neurons:	n/a	chr19:57049698-57049706 chr19:57049912-57049925
27	POLR2A	chr19:57049479-57050185	H1-neurons	neurons:	n/a	n/a
28	CREB1	chr19:57049461-57050173	H1-hESC	embryonic stem cell:	n/a	n/a
29	NRF1	chr19:57049135-57050750	SK-N-SH	brain:	n/a	chr19:57049806-57049817 chr19:57049808-57049817 chr19:57049803-57049817 chr19:57049806-57049820 chr19:57050290-57050299 chr19:57050288-57050297

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:57049530-57049580	GM12878	blood:	n/a
2	chr19:57049530-57049580	PFSK-1	brain:	n/a
3	chr19:57049530-57049580	SK-N-SH	brain:	n/a
4	chr19:57049530-57049580	HepG2	liver:	n/a
5	chr19:57049530-57049580	A549	lung:	n/a
6	chr19:57049530-57049580	AG09319	gingival:	n/a
7	chr19:57049530-57049580	HRCEpiC	kidney:	n/a
8	chr19:57049530-57049580	HRE	kidney:	n/a
9	chr19:57049530-57049580	HNPCEpiC	eye:	n/a
10	chr19:57049530-57049580	HEK293	kidney:	embryo
11	chr19:57049530-57049580	ECC-1	luminal epithelium:	n/a
12	chr19:57049530-57049580	HL-60	blood:	n/a
13	chr19:57049530-57049580	NHDF-neo	bronchial:	n/a
14	chr19:57049530-57049580	HRPEpiC	eye:	n/a
15	chr19:57049530-57049580	Jurkat	blood:	n/a
16	chr19:57049530-57049580	HCT-116	colon:	n/a
17	chr19:57049530-57049580	T-47D	breast:	n/a
18	chr19:57049530-57049580	PrEC	prostate:	n/a
19	chr19:57049530-57049580	Hela-S3	cervix:	n/a
20	chr19:57049530-57049580	ProgFib	skin:	n/a
21	chr19:57049530-57049580	HMEC	breast:	n/a
22	chr19:57049530-57049580	GM06990	blood:	n/a
23	chr19:57049530-57049580	AG04450	lung:	fetal
24	chr19:57049530-57049580	AG10803	skin:	n/a
25	chr19:57049530-57049580	LNCaP	prostate:	n/a
26	chr19:57049530-57049580	SAEC	small airway:	n/a
27	chr19:57049530-57049580	HEEpiC	esophagus:	n/a
28	chr19:57049530-57049580	HPAEpiC	pulmonary alveolar:	n/a
29	chr19:57049530-57049580	HCF	heart:	n/a
30	chr19:57049530-57049580	Hepatocyte	liver:	n/a
31	chr19:57049530-57049580	BJ	skin:	n/a
32	chr19:57049530-57049580	GM12892	blood:	n/a
33	chr19:57049530-57049580	MCF-7	breast:	n/a
34	chr19:57049530-57049580	NT2-D1	testis:	n/a
35	chr19:57049530-57049580	HCM	heart:	n/a
36	chr19:57049530-57049580	Caco-2	colon:	n/a
37	chr19:57049530-57049580	CMK	blood:	n/a
38	chr19:57049530-57049580	NHBE	bronchial:	n/a
39	chr19:57049530-57049580	PANC-1	pancreas:	n/a
40	chr19:57049530-57049580	HAEpiC	amniotic membrane:	n/a
41	chr19:57049530-57049580	SK-N-SH_RA	brain:	n/a
42	chr19:57049530-57049580	NH-A	brain:	n/a
43	chr19:57049530-57049580	U87	brain:	n/a
44	chr19:57049530-57049580	BE2_C	brain:	n/a
45	chr19:57049530-57049580	MCF10A-Er-Src	breast:	n/a
46	chr19:57049530-57049580	HUVEC	blood vessel:	n/a
47	chr19:57049530-57049580	SK-N-MC	brain:	n/a
48	chr19:57049530-57049580	AG04449	skin:	fetal
49	chr19:57049530-57049580	RPTEC	kidney:	n/a
50	chr19:57049530-57049580	K562	blood:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF667-3	chr19:57049017-57049800	ENSG00000267421.2

Variant related genes	Relation type
ZFP28	TF binding region
ZFP28	CpG island

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10403034	0.83[EUR][1000 genomes]
rs10405130	0.85[EUR][1000 genomes]
rs10405534	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10407163	0.83[EUR][1000 genomes]
rs10408508	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10413931	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10417351	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10418635	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10422564	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10423617	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13346710	0.86[EUR][1000 genomes]
rs17207495	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2058131	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2286420	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34136271	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3752177	0.83[EUR][1000 genomes]
rs73055319	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73055321	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73068034	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73068037	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73068061	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73070034	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73070060	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73070074	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73070077	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73070080	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv580385	chr19:56918598-57072433	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv1057240	chr19:56919831-57153659	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv544097	chr19:56919831-57153659	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv580386	chr19:56924761-57072433	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv1055357	chr19:56933632-57190007	ZNF genes & repeats Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv912518	chr19:56995737-57109821	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv912519	chr19:57020754-57065189	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:57047400-57049600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr19:57047400-57049600	ZNF genes & repeats	Colonic Mucosa	Colon
3	chr19:57047400-57077800	ZNF genes & repeats	Liver	Liver
4	chr19:57047600-57049600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
5	chr19:57047600-57049800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:57048000-57049600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr19:57048200-57049600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr19:57048200-57049600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
9	chr19:57048400-57049600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr19:57048400-57049600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
11	chr19:57048400-57049600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
12	chr19:57048400-57050000	ZNF genes & repeats	Thymus	Thymus
13	chr19:57048600-57049600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:57048600-57049600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
15	chr19:57048600-57049600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:57048800-57049600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr19:57048800-57049600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:57048800-57049600	ZNF genes & repeats	A549	lung
19	chr19:57048800-57049800	ZNF genes & repeats	Esophagus	oesophagus
20	chr19:57048800-57050000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:57048800-57050400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:57048800-57051200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
23	chr19:57048800-57051400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr19:57048800-57051600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:57048800-57053000	ZNF genes & repeats	Placenta	Placenta
26	chr19:57048800-57053000	ZNF genes & repeats	HSMM	muscle
27	chr19:57048800-57053800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:57049000-57049600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:57049000-57049600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr19:57049000-57049600	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr19:57049000-57049600	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr19:57049000-57049600	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr19:57049000-57049600	Flanking Active TSS	Fetal Heart	heart
34	chr19:57049000-57049600	ZNF genes & repeats	HSMMtube	muscle
35	chr19:57049000-57049800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:57049000-57049800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr19:57049000-57049800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:57049000-57049800	ZNF genes & repeats	Fetal Thymus	thymus
39	chr19:57049000-57050000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr19:57049000-57050000	ZNF genes & repeats	Lung	lung
41	chr19:57049000-57050000	ZNF genes & repeats	HMEC	breast
42	chr19:57049000-57050600	Active TSS	Fetal Brain Female	brain
43	chr19:57049000-57050800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:57049000-57050800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:57049000-57050800	Active TSS	NHLF	lung
46	chr19:57049000-57051400	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr19:57049200-57049600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:57049200-57049600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr19:57049200-57049600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr19:57049200-57049600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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