Variant report

Variant	rs16974142
Chromosome Location	chr19:38085982-38085983
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	CHD2	chr19:38084935-38086215	GM12878	blood:	n/a	n/a
2	MYC	chr19:38085116-38086307	K562	blood:	n/a	n/a
3	IRF1	chr19:38085457-38085983	K562	blood:	n/a	n/a
4	EP300	chr19:38085974-38086324	GM12878	blood:	n/a	n/a
5	ZKSCAN1	chr19:38084992-38086515	Hela-S3	cervix:	n/a	n/a
6	MAX	chr19:38084948-38086359	MCF-7	breast:	n/a	n/a
7	WRNIP1	chr19:38085316-38086067	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:38084964-38086230	GM12891	blood:	n/a	n/a
9	MAX	chr19:38084922-38086300	K562	blood:	n/a	n/a
10	CCNT2	chr19:38085544-38086099	K562	blood:	n/a	n/a
11	POLR2A	chr19:38085113-38086710	H1-neurons	neurons:	n/a	n/a
12	TCF12	chr19:38085032-38086046	ECC-1	luminal epithelium:	n/a	chr19:38085160-38085167
13	ETS1	chr19:38084999-38086036	A549	lung:	n/a	chr19:38085722-38085735
14	RFX5	chr19:38085446-38086271	GM12878	blood:	n/a	chr19:38085696-38085710
15	RCOR1	chr19:38085029-38086020	GM12878	blood:	n/a	n/a
16	JUND	chr19:38084970-38086143	H1-hESC	embryonic stem cell:	n/a	n/a
17	YY1	chr19:38085887-38086305	GM12878	blood:	n/a	n/a
18	ELK1	chr19:38085056-38086209	GM12878	blood:	n/a	n/a
19	ZNF143	chr19:38085176-38086186	GM12878	blood:	n/a	chr19:38085715-38085733 chr19:38085722-38085731 chr19:38085724-38085733
20	MAX	chr19:38085072-38086328	H1-hESC	embryonic stem cell:	n/a	n/a
21	TEAD4	chr19:38085467-38086224	H1-hESC	embryonic stem cell:	n/a	n/a
22	YY1	chr19:38085097-38086257	GM12892	blood:	n/a	chr19:38085253-38085264 chr19:38085253-38085262
23	MYC	chr19:38085215-38086176	K562	blood:	n/a	n/a
24	ZNF143	chr19:38085231-38086178	H1-hESC	embryonic stem cell:	n/a	chr19:38085715-38085733 chr19:38085722-38085731 chr19:38085724-38085733
25	MYC	chr19:38085029-38086325	MCF10A-Er-Src	breast:	n/a	n/a
26	MAX	chr19:38085127-38086255	GM12878	blood:	n/a	n/a
27	FOS	chr19:38085122-38086492	MCF10A-Er-Src	breast:	n/a	chr19:38086284-38086295
28	ZEB1	chr19:38084919-38086349	HepG2	liver:	n/a	chr19:38085637-38085644 chr19:38085635-38085644 chr19:38085241-38085248
29	EP300	chr19:38085685-38086184	GM12878	blood:	n/a	n/a
30	EP300	chr19:38084985-38086224	GM12878	blood:	n/a	n/a
31	CEBPB	chr19:38085268-38086033	HepG2	liver:	n/a	n/a
32	CEBPB	chr19:38085402-38086098	IMR90	lung:	n/a	n/a
33	MTA3	chr19:38085822-38086273	GM12878	blood:	n/a	n/a
34	MAX	chr19:38085409-38086184	HepG2	liver:	n/a	n/a
35	SIN3AK20	chr19:38085789-38086187	PANC-1	pancreas:	n/a	n/a
36	RCOR1	chr19:38085157-38086364	Hela-S3	cervix:	n/a	n/a
37	CREB1	chr19:38085197-38086244	ECC-1	luminal epithelium:	n/a	n/a
38	ELF1	chr19:38085017-38086181	MCF-7	breast:	n/a	chr19:38085429-38085441
39	CEBPB	chr19:38085156-38086206	Hela-S3	cervix:	n/a	n/a
40	ZNF143	chr19:38085280-38086227	Hela-S3	cervix:	n/a	chr19:38085715-38085733 chr19:38085722-38085731 chr19:38085724-38085733
41	POLR2A	chr19:38085952-38086229	A549	lung:	n/a	n/a
42	MAX	chr19:38084958-38086370	HepG2	liver:	n/a	n/a
43	MYC	chr19:38085912-38086296	MCF-7	breast:	n/a	n/a
44	MXI1	chr19:38085125-38086254	HepG2	liver:	n/a	n/a
45	HCFC1	chr19:38084749-38086755	Hela-S3	cervix:	n/a	n/a
46	KAP1	chr19:38084859-38086801	U2OS	brain:	n/a	n/a
47	SIN3A	chr19:38084956-38086343	H1-hESC	embryonic stem cell:	n/a	chr19:38085137-38085145
48	ATF1	chr19:38085471-38086216	K562	blood:	n/a	n/a
49	MAX	chr19:38085507-38086198	NB4	blood:	n/a	n/a
50	MAX	chr19:38085152-38086198	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:38085961..38087829-chr19:38145172..38147580,2	K562	blood:
2	chr19:38084603..38087452-chr19:38269351..38271925,3	MCF-7	breast:
3	chr19:38083812..38086216-chr19:38209948..38211806,2	MCF-7	breast:
4	chr19:38085182..38087082-chr19:38268049..38270346,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF793-2	chr19:38085777-38085996	NONHSAT066146

Variant related genes	Relation type
ZNF571	TF binding region
ZNF540	TF binding region
ENSG00000267422	Chromatin interaction
ENSG00000189144	Chromatin interaction
ENSG00000198182	Chromatin interaction
ENSG00000120784	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16973544	1.00[AMR][1000 genomes]
rs16973893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16974028	1.00[AMR][1000 genomes]
rs16974141	1.00[AMR][1000 genomes]
rs2112924	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	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 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	chr19:38084400-38086000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr19:38084400-38086200	Active TSS	NHEK	skin
3	chr19:38084400-38086400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:38084400-38086400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:38084600-38086000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:38084600-38086000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:38084600-38086000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr19:38084600-38086000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr19:38084600-38086000	Active TSS	K562	blood
10	chr19:38084600-38086200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr19:38084600-38086200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr19:38084600-38086200	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr19:38084600-38086200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:38084600-38086400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr19:38084600-38086400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr19:38084600-38086400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr19:38084600-38086400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:38084600-38086400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:38084600-38086400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr19:38084600-38086400	Active TSS	Colon Smooth Muscle	Colon
21	chr19:38084600-38086400	Active TSS	Esophagus	oesophagus
22	chr19:38084600-38086400	Active TSS	Fetal Kidney	kidney
23	chr19:38084600-38086400	Active TSS	Fetal Stomach	stomach
24	chr19:38084600-38086600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:38084600-38086600	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr19:38084600-38086600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr19:38084600-38086600	Active TSS	Colonic Mucosa	Colon
28	chr19:38084600-38086600	Active TSS	Fetal Intestine Small	intestine
29	chr19:38084600-38086600	Active TSS	HSMM	muscle
30	chr19:38084600-38086600	Active TSS	NHLF	lung
31	chr19:38084600-38086800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:38084600-38086800	Active TSS	Fetal Intestine Large	intestine
33	chr19:38084600-38086800	Active TSS	HMEC	breast
34	chr19:38084600-38087000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:38084800-38086000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:38084800-38086000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:38084800-38086000	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr19:38084800-38086200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr19:38084800-38086200	Active TSS	Muscle Satellite Cultured Cells	--
40	chr19:38084800-38086400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr19:38084800-38086400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:38084800-38086400	Active TSS	Fetal Muscle Trunk	muscle
43	chr19:38084800-38086400	Active TSS	Placenta Amnion	Placenta Amnion
44	chr19:38084800-38086400	Active TSS	Stomach Mucosa	stomach
45	chr19:38084800-38086600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr19:38084800-38086600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:38084800-38086600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:38084800-38086600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr19:38084800-38086600	Active TSS	Lung	lung
50	chr19:38084800-38086600	Active TSS	Pancreas	Pancrea

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