Variant report

Variant	rs73632224
Chromosome Location	chr19:37998034-37998035
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	YY1	chr19:37996928-37998393	SK-N-SH	brain:	n/a	chr19:37997473-37997481 chr19:37997472-37997482 chr19:37997694-37997703 chr19:37997683-37997705 chr19:37997472-37997494 chr19:37997695-37997705 chr19:37997528-37997550
2	ELF1	chr19:37997622-37998154	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:37997048-37998230	GM12891	blood:	n/a	n/a
4	POLR2A	chr19:37997099-37998185	GM19193	blood:	n/a	n/a
5	ATF2	chr19:37997130-37998206	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:37996710-37998244	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr19:37996967-37998281	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr19:37997657-37998066	ProgFib	skin:	n/a	n/a
9	POLR2A	chr19:37996729-37998327	H1-neurons	neurons:	n/a	n/a
10	RELA	chr19:37997043-37998288	GM15510	blood:	n/a	n/a
11	GTF2F1	chr19:37997112-37998159	H1-hESC	embryonic stem cell:	n/a	n/a
12	SP1	chr19:37996975-37998151	H1-hESC	embryonic stem cell:	n/a	chr19:37997276-37997288 chr19:37997276-37997288 chr19:37997277-37997286 chr19:37997277-37997291 chr19:37997295-37997307
13	TCF7L2	chr19:37997275-37998066	MCF-7	breast:	n/a	chr19:37997512-37997522 chr19:37997509-37997523 chr19:37997512-37997521
14	YY1	chr19:37997193-37998154	GM12878	blood:	n/a	chr19:37997473-37997481 chr19:37997472-37997482 chr19:37997694-37997703 chr19:37997683-37997705 chr19:37997472-37997494 chr19:37997695-37997705 chr19:37997528-37997550
15	YY1	chr19:37997186-37998169	NT2-D1	testis:	n/a	chr19:37997473-37997481 chr19:37997472-37997482 chr19:37997694-37997703 chr19:37997683-37997705 chr19:37997472-37997494 chr19:37997695-37997705 chr19:37997528-37997550
16	ZNF143	chr19:37996866-37998180	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr19:37996869-37998318	H1-hESC	embryonic stem cell:	n/a	n/a
18	YY1	chr19:37997159-37998150	GM12878	blood:	n/a	chr19:37997473-37997481 chr19:37997472-37997482 chr19:37997694-37997703 chr19:37997683-37997705 chr19:37997472-37997494 chr19:37997695-37997705 chr19:37997528-37997550
19	POLR2A	chr19:37997163-37998216	GM18951	blood:	n/a	n/a
20	REST	chr19:37997769-37998140	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr19:37996674-37998256	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr19:37997231-37998167	H1-hESC	embryonic stem cell:	n/a	n/a
23	CREB1	chr19:37997529-37998219	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr19:37997091-37998347	SK-N-SH	brain:	n/a	n/a
25	POU2F2	chr19:37997530-37998185	GM12891	blood:	n/a	n/a
26	YY1	chr19:37997241-37998135	GM12892	blood:	n/a	chr19:37997473-37997481 chr19:37997472-37997482 chr19:37997694-37997703 chr19:37997683-37997705 chr19:37997472-37997494 chr19:37997695-37997705 chr19:37997528-37997550
27	YY1	chr19:37997194-37998139	GM12891	blood:	n/a	chr19:37997473-37997481 chr19:37997472-37997482 chr19:37997694-37997703 chr19:37997683-37997705 chr19:37997472-37997494 chr19:37997695-37997705 chr19:37997528-37997550
28	POLR2A	chr19:37997070-37998304	GM12891	blood:	n/a	n/a
29	TAF1	chr19:37996730-37998269	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr19:37997199-37998202	H1-hESC	embryonic stem cell:	n/a	n/a
31	MYC	chr19:37997660-37998074	MCF-7	breast:	n/a	n/a
32	NANOG	chr19:37997705-37998156	H1-hESC	embryonic stem cell:	n/a	n/a
33	JUND	chr19:37997033-37998137	H1-hESC	embryonic stem cell:	n/a	n/a
34	MYC	chr19:37997884-37998209	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr19:37997157-37998200	MCF-7	breast:	n/a	n/a
36	POLR2A	chr19:37996999-37998050	SK-N-MC	brain:	n/a	n/a
37	POLR2A	chr19:37996477-37998446	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr19:37997084-37998183	MCF-7	breast:	n/a	n/a
39	YY1	chr19:37996995-37998245	SK-N-SH_RA	brain:	n/a	chr19:37997473-37997481 chr19:37997472-37997482 chr19:37997694-37997703 chr19:37997683-37997705 chr19:37997472-37997494 chr19:37997695-37997705 chr19:37997528-37997550
40	POLR2A	chr19:37997069-37998224	GM12891	blood:	n/a	n/a
41	ZBTB33	chr19:37997546-37998332	SK-N-SH	brain:	n/a	chr19:37998074-37998084
42	REST	chr19:37997865-37998176	SK-N-SH	brain:	n/a	n/a
43	REST	chr19:37996982-37998223	HL-60	blood:	n/a	chr19:37997421-37997434
44	POLR2A	chr19:37996702-37998421	PANC-1	pancreas:	n/a	n/a
45	MXI1	chr19:37996285-37998848	SK-N-SH	brain:	n/a	chr19:37996660-37996675
46	POLR2A	chr19:37997082-37998161	GM12892	blood:	n/a	n/a
47	POLR2A	chr19:37997015-37998241	GM12891	blood:	n/a	n/a
48	POLR2A	chr19:37996889-37998277	HL-60	blood:	n/a	n/a
49	CHD2	chr19:37996899-37998248	H1-hESC	embryonic stem cell:	n/a	n/a
50	NRF1	chr19:37997672-37998048	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:37997991-37998041	U87	brain:	n/a
2	chr19:37997991-37998041	SK-N-MC	brain:	n/a
3	chr19:37997991-37998041	BJ	skin:	n/a
4	chr19:37997991-37998041	Jurkat	blood:	n/a
5	chr19:37997991-37998041	PFSK-1	brain:	n/a
6	chr19:37997991-37998041	PANC-1	pancreas:	n/a
7	chr19:37997991-37998041	SKMC	muscle:	n/a
8	chr19:37997991-37998041	SK-N-SH	brain:	n/a
9	chr19:37997991-37998041	CMK	blood:	n/a
10	chr19:37997991-37998041	HCF	heart:	n/a
11	chr19:37997991-37998041	IMR90	lung:	fetal
12	chr19:37997991-37998041	NH-A	brain:	n/a
13	chr19:37997991-37998041	GM19239	blood:	n/a
14	chr19:37997991-37998041	HRE	kidney:	n/a
15	chr19:37997991-37998041	GM06990	blood:	n/a
16	chr19:37997991-37998041	HCPEpiC	choroid plexus:	n/a
17	chr19:37997991-37998041	ECC-1	luminal epithelium:	n/a
18	chr19:37997991-37998041	HCT-116	colon:	n/a
19	chr19:37997991-37998041	RPTEC	kidney:	n/a
20	chr19:37997991-37998041	AG04449	skin:	fetal
21	chr19:37997991-37998041	LNCaP	prostate:	n/a
22	chr19:37997991-37998041	Hela-S3	cervix:	n/a
23	chr19:37997991-37998041	AG09319	gingival:	n/a
24	chr19:37997991-37998041	ProgFib	skin:	n/a
25	chr19:37997991-37998041	AG04450	lung:	fetal
26	chr19:37997991-37998041	NHDF-neo	bronchial:	n/a
27	chr19:37997991-37998041	GM12891	blood:	n/a
28	chr19:37997991-37998041	MCF10A-Er-Src	breast:	n/a
29	chr19:37997991-37998041	K562	blood:	n/a
30	chr19:37997991-37998041	HPAEpiC	pulmonary alveolar:	n/a
31	chr19:37997991-37998041	T-47D	breast:	n/a
32	chr19:37997991-37998041	HepG2	liver:	n/a
33	chr19:37997991-37998041	Hepatocyte	liver:	n/a
34	chr19:37997991-37998041	SAEC	small airway:	n/a
35	chr19:37997991-37998041	H1-hESC	embryonic stem cell:	embryo
36	chr19:37997991-37998041	AG09309	skin:	n/a
37	chr19:37997991-37998041	NB4	blood:	n/a
38	chr19:37997991-37998041	HRPEpiC	eye:	n/a
39	chr19:37997991-37998041	HUVEC	blood vessel:	n/a
40	chr19:37997991-37998041	GM12892	blood:	n/a
41	chr19:37997991-37998041	A549	lung:	n/a
42	chr19:37997991-37998041	BE2_C	brain:	n/a
43	chr19:37997991-37998041	MCF-7	breast:	n/a
44	chr19:37997991-37998041	HNPCEpiC	eye:	n/a
45	chr19:37997991-37998041	AG10803	skin:	n/a
46	chr19:37997991-37998041	HAEpiC	amniotic membrane:	n/a
47	chr19:37997991-37998041	NT2-D1	testis:	n/a
48	chr19:37997991-37998041	HEK293	kidney:	embryo
49	chr19:37997991-37998041	HMEC	breast:	n/a
50	chr19:37997991-37998041	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:37992616..37995600-chr19:37995736..37998672,5	MCF-7	breast:
2	chr19:37996176..37999146-chr19:38209174..38211289,2	MCF-7	breast:
3	chr19:37955552..37960531-chr19:37996583..37998774,4	MCF-7	breast:
4	chr19:37957751..37961901-chr19:37996099..37999727,6	MCF-7	breast:
5	chr19:37987631..37989871-chr19:37996181..37998149,2	MCF-7	breast:
6	chr19:37825178..37827025-chr19:37995882..37998065,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF569-5	chr19:37997741-37998058	NONHSAT066122
2	lnc-ZNF569-5	chr19:37997741-37998292	NONHSAT066119

Variant related genes	Relation type
ENSG00000266916	TF binding region
ENSG00000267115	TF binding region
ZNF793	TF binding region
ZNF793	CpG island
ENSG00000266916	CpG island
ENSG00000267115	CpG island
ENSG00000181666	Chromatin interaction
ENSG00000266916	Chromatin interaction
ENSG00000267115	Chromatin interaction
ENSG00000198182	Chromatin interaction
ENSG00000196437	Chromatin interaction
ENSG00000171827	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs2081095	1.00[AMR][1000 genomes]
rs57172286	1.00[AMR][1000 genomes]
rs57558227	1.00[AMR][1000 genomes]
rs57653286	1.00[AMR][1000 genomes]
rs57991649	1.00[AMR][1000 genomes]
rs58181180	1.00[AMR][1000 genomes]
rs58356286	1.00[AMR][1000 genomes]
rs58874386	1.00[AMR][1000 genomes]
rs58889235	1.00[AMR][1000 genomes]
rs59974370	1.00[AMR][1000 genomes]
rs60155022	1.00[AMR][1000 genomes]
rs73617110	1.00[AMR][1000 genomes]
rs73617115	1.00[AMR][1000 genomes]
rs73617116	1.00[AMR][1000 genomes]
rs73617118	1.00[AMR][1000 genomes]
rs73617123	1.00[AMR][1000 genomes]
rs73617125	1.00[AMR][1000 genomes]
rs73617129	1.00[AMR][1000 genomes]
rs73617131	1.00[AMR][1000 genomes]
rs73617141	1.00[AMR][1000 genomes]
rs73617156	1.00[AMR][1000 genomes]
rs73617163	1.00[AMR][1000 genomes]
rs73617168	1.00[AMR][1000 genomes]
rs73617173	1.00[AMR][1000 genomes]
rs73617175	1.00[AMR][1000 genomes]
rs73617179	1.00[AMR][1000 genomes]
rs73618903	1.00[AMR][1000 genomes]
rs73618986	1.00[AMR][1000 genomes]
rs73618993	1.00[AMR][1000 genomes]
rs73619001	1.00[AMR][1000 genomes]
rs73621506	1.00[AMR][1000 genomes]
rs73621518	1.00[AMR][1000 genomes]
rs73621526	1.00[AMR][1000 genomes]
rs73621530	1.00[AMR][1000 genomes]
rs73621533	1.00[AMR][1000 genomes]
rs73621535	1.00[AMR][1000 genomes]
rs73621536	1.00[AMR][1000 genomes]
rs73621543	1.00[AMR][1000 genomes]
rs73621545	1.00[AMR][1000 genomes]
rs73621570	1.00[AMR][1000 genomes]
rs73621578	1.00[AMR][1000 genomes]
rs73621580	1.00[AMR][1000 genomes]
rs73621584	1.00[AMR][1000 genomes]
rs73621598	1.00[AMR][1000 genomes]
rs73623410	1.00[AMR][1000 genomes]
rs73623432	1.00[AMR][1000 genomes]
rs73627757	1.00[AMR][1000 genomes]
rs73627762	1.00[AMR][1000 genomes]
rs73627764	1.00[AMR][1000 genomes]
rs73627796	1.00[AMR][1000 genomes]
rs73627802	1.00[AMR][1000 genomes]
rs73629606	1.00[AMR][1000 genomes]
rs73629637	1.00[AMR][1000 genomes]
rs73629646	1.00[AMR][1000 genomes]
rs73629665	1.00[AMR][1000 genomes]
rs73629668	1.00[AMR][1000 genomes]
rs73629679	1.00[AMR][1000 genomes]
rs73631014	1.00[AMR][1000 genomes]
rs73631027	1.00[AMR][1000 genomes]
rs73631041	1.00[AMR][1000 genomes]
rs73631044	1.00[AMR][1000 genomes]
rs73631045	1.00[AMR][1000 genomes]
rs73631050	1.00[AMR][1000 genomes]
rs73631060	1.00[AMR][1000 genomes]
rs73631066	1.00[AMR][1000 genomes]
rs73631070	1.00[AMR][1000 genomes]
rs73631071	1.00[AMR][1000 genomes]
rs73631080	1.00[AMR][1000 genomes]
rs73631082	1.00[AMR][1000 genomes]
rs73631084	1.00[AMR][1000 genomes]
rs73631087	1.00[AMR][1000 genomes]
rs73632220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73632231	1.00[AMR][1000 genomes]
rs73632248	1.00[AMR][1000 genomes]
rs73632252	1.00[AMR][1000 genomes]
rs73632256	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1056753	chr19:37963714-38015943	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37996000-37999200	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:37996000-37999200	ZNF genes & repeats	Liver	Liver
3	chr19:37996200-37998600	Active TSS	Colonic Mucosa	Colon
4	chr19:37996200-37999000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr19:37996400-37998400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:37996400-37998600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
7	chr19:37996400-37999400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr19:37996400-37999400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr19:37996600-37998200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr19:37996600-37998400	Active TSS	H1 Cell Line	embryonic stem cell
11	chr19:37996600-37998600	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr19:37996600-37998600	Active TSS	Aorta	Aorta
13	chr19:37996600-37998800	ZNF genes & repeats	GM12878-XiMat	blood
14	chr19:37996600-37999000	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr19:37996600-37999400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr19:37996800-37998200	Active TSS	Gastric	stomach
17	chr19:37996800-37998200	ZNF genes & repeats	Thymus	Thymus
18	chr19:37996800-37998200	ZNF genes & repeats	HepG2	liver
19	chr19:37996800-37998200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
20	chr19:37996800-37998400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:37996800-37998400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr19:37996800-37998400	Active TSS	Fetal Brain Female	brain
23	chr19:37996800-37998400	Active TSS	Fetal Kidney	kidney
24	chr19:37996800-37998600	Active TSS	H9 Cell Line	embryonic stem cell
25	chr19:37996800-37998600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:37996800-37998600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:37996800-37998600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:37996800-37998600	Active TSS	Fetal Thymus	thymus
29	chr19:37996800-37998600	Active TSS	Psoas Muscle	Psoas
30	chr19:37996800-37998600	Active TSS	NH-A	brain
31	chr19:37996800-37998600	Active TSS	NHDF-Ad	bronchial
32	chr19:37996800-37998800	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr19:37996800-37998800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:37996800-37998800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:37996800-37998800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:37996800-37998800	Active TSS	Muscle Satellite Cultured Cells	--
37	chr19:37996800-37998800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr19:37996800-37998800	Active TSS	Ovary	ovary
39	chr19:37996800-37998800	Active TSS	NHLF	lung
40	chr19:37996800-37998800	Active TSS	Osteobl	bone
41	chr19:37996800-37999000	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr19:37997000-37998200	Active TSS	Brain Hippocampus Middle	brain
43	chr19:37997000-37998200	Active TSS	Small Intestine	intestine
44	chr19:37997000-37998200	ZNF genes & repeats	HSMMtube	muscle
45	chr19:37997000-37998400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:37997000-37998400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:37997000-37998400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:37997000-37998400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr19:37997000-37998400	Active TSS	Brain Angular Gyrus	brain
50	chr19:37997000-37998400	Active TSS	Brain Anterior Caudate	brain

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