Variant report

Variant	rs73621272
Chromosome Location	chr19:56915440-56915441
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	chr19:56915085-56916074	GM12878	blood:	n/a	n/a
2	MAX	chr19:56915204-56915454	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:56915231-56915956	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:56915065-56916095	GM12892	blood:	n/a	n/a
5	ARID3A	chr19:56915260-56915738	HepG2	liver:	n/a	n/a
6	SIN3A	chr19:56915024-56916281	H1-hESC	embryonic stem cell:	n/a	chr19:56915778-56915791 chr19:56915838-56915851 chr19:56915759-56915772
7	CCNT2	chr19:56915246-56915917	K562	blood:	n/a	n/a
8	POLR2A	chr19:56915045-56915964	GM19193	blood:	n/a	n/a
9	POLR2A	chr19:56915151-56915787	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr19:56914969-56916416	HepG2	liver:	n/a	n/a
11	YY1	chr19:56915126-56916049	SK-N-SH_RA	brain:	n/a	n/a
12	RUNX3	chr19:56915225-56915879	GM12878	blood:	n/a	n/a
13	BACH1	chr19:56915357-56915904	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr19:56915258-56915584	GM12878	blood:	n/a	n/a
15	MAX	chr19:56915033-56916215	GM12878	blood:	n/a	chr19:56915768-56915778
16	POLR2A	chr19:56914963-56916502	H1-neurons	neurons:	n/a	n/a
17	HCFC1	chr19:56915173-56916136	K562	blood:	n/a	n/a
18	POLR2A	chr19:56915251-56915950	K562	blood:	n/a	n/a
19	POLR2A	chr19:56914732-56916168	GM12891	blood:	n/a	n/a
20	ZNF143	chr19:56915235-56916352	K562	blood:	n/a	chr19:56915651-56915661 chr19:56915671-56915690 chr19:56915765-56915775 chr19:56915667-56915685
21	TBP	chr19:56915235-56915956	K562	blood:	n/a	n/a
22	POLR2A	chr19:56915199-56915661	H1-hESC	embryonic stem cell:	n/a	n/a
23	NRF1	chr19:56915193-56915628	HepG2	liver:	n/a	chr19:56915448-56915457 chr19:56915385-56915396 chr19:56915446-56915457 chr19:56915446-56915460 chr19:56915446-56915457 chr19:56915443-56915457 chr19:56915382-56915396
24	POLR2A	chr19:56915232-56915533	A549	lung:	n/a	n/a
25	RCOR1	chr19:56914840-56916245	GM12878	blood:	n/a	n/a
26	MAX	chr19:56915028-56916226	ECC-1	luminal epithelium:	n/a	chr19:56915768-56915778
27	POLR2A	chr19:56915045-56916527	GM12892	blood:	n/a	n/a
28	POLR2A	chr19:56914957-56915984	SK-N-SH	brain:	n/a	n/a
29	CHD2	chr19:56915389-56915902	H1-hESC	embryonic stem cell:	n/a	chr19:56915710-56915717
30	POLR2A	chr19:56915065-56915963	GM18951	blood:	n/a	n/a
31	STAT5A	chr19:56915135-56915499	GM12878	blood:	n/a	chr19:56915228-56915239 chr19:56915345-56915357 chr19:56915475-56915487 chr19:56915197-56915209
32	MAX	chr19:56915136-56916536	K562	blood:	n/a	chr19:56916261-56916270 chr19:56915768-56915778 chr19:56916261-56916272 chr19:56916253-56916269
33	POLR2A	chr19:56915222-56915877	H1-hESC	embryonic stem cell:	n/a	n/a
34	NFIC	chr19:56915197-56915975	ECC-1	luminal epithelium:	n/a	n/a
35	MXI1	chr19:56915148-56916118	HepG2	liver:	n/a	n/a
36	POLR2A	chr19:56915105-56916147	K562	blood:	n/a	n/a
37	POLR2A	chr19:56915070-56916025	GM12878	blood:	n/a	n/a
38	POLR2A	chr19:56915093-56916075	ECC-1	luminal epithelium:	n/a	n/a
39	TCF12	chr19:56914824-56916112	A549	lung:	n/a	chr19:56915677-56915687 chr19:56915441-56915451 chr19:56915290-56915297
40	POLR2A	chr19:56915214-56915831	HepG2	liver:	n/a	n/a
41	GTF2F1	chr19:56915388-56915761	H1-hESC	embryonic stem cell:	n/a	n/a
42	SETDB1	chr19:56915113-56916088	K562	blood:	n/a	chr19:56915447-56915456 chr19:56915665-56915689 chr19:56915386-56915395
43	PAX5	chr19:56915188-56915534	GM12878	blood:	n/a	chr19:56915228-56915237 chr19:56915386-56915395
44	E2F6	chr19:56915203-56916474	K562	blood:	n/a	chr19:56915386-56915395 chr19:56915479-56915488 chr19:56915710-56915717 chr19:56915447-56915456 chr19:56915806-56915817 chr19:56915652-56915661
45	SP1	chr19:56915157-56915983	A549	lung:	n/a	chr19:56915564-56915571
46	HEY1	chr19:56915198-56915830	HepG2	liver:	n/a	chr19:56915651-56915666 chr19:56915649-56915664
47	NRF1	chr19:56914508-56916045	SK-N-SH	brain:	n/a	chr19:56915448-56915457 chr19:56915385-56915396 chr19:56915446-56915457 chr19:56915446-56915460 chr19:56915446-56915457 chr19:56915443-56915457 chr19:56915382-56915396
48	ZC3H11A	chr19:56915241-56915614	K562	blood:	n/a	n/a
49	IRF1	chr19:56915179-56915772	K562	blood:	n/a	chr19:56915216-56915230 chr19:56915214-56915234 chr19:56915224-56915238 chr19:56915228-56915238 chr19:56915212-56915226 chr19:56915220-56915240 chr19:56915222-56915236 chr19:56915218-56915232 chr19:56915222-56915232 chr19:56915216-56915226
50	NRF1	chr19:56915190-56915642	K562	blood:	n/a	chr19:56915448-56915457 chr19:56915385-56915396 chr19:56915446-56915457 chr19:56915446-56915460 chr19:56915446-56915457 chr19:56915443-56915457 chr19:56915382-56915396

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56915403-56915453	HCPEpiC	choroid plexus:	n/a
2	chr19:56915403-56915453	AG09309	skin:	n/a
3	chr19:56915403-56915453	SK-N-MC	brain:	n/a
4	chr19:56915403-56915453	K562	blood:	n/a
5	chr19:56915403-56915453	HNPCEpiC	eye:	n/a
6	chr19:56915403-56915453	ProgFib	skin:	n/a
7	chr19:56915403-56915453	NT2-D1	testis:	n/a
8	chr19:56915403-56915453	GM06990	blood:	n/a
9	chr19:56915403-56915453	HCF	heart:	n/a
10	chr19:56915403-56915453	LNCaP	prostate:	n/a
11	chr19:56915403-56915453	PFSK-1	brain:	n/a
12	chr19:56915403-56915453	ECC-1	luminal epithelium:	n/a
13	chr19:56915403-56915453	NHDF-neo	bronchial:	n/a
14	chr19:56915403-56915453	AG04449	skin:	fetal
15	chr19:56915403-56915453	HRPEpiC	eye:	n/a
16	chr19:56915403-56915453	HIPEpiC	eye:	n/a
17	chr19:56915403-56915453	AoSMC	blood vessel:	n/a
18	chr19:56915403-56915453	AG10803	skin:	n/a
19	chr19:56915403-56915453	HCM	heart:	n/a
20	chr19:56915403-56915453	NB4	blood:	n/a
21	chr19:56915403-56915453	HUVEC	blood vessel:	n/a
22	chr19:56915403-56915453	NHBE	bronchial:	n/a
23	chr19:56915403-56915453	U87	brain:	n/a
24	chr19:56915403-56915453	NH-A	brain:	n/a
25	chr19:56915403-56915453	SKMC	muscle:	n/a
26	chr19:56915403-56915453	HRCEpiC	kidney:	n/a
27	chr19:56915403-56915453	SK-N-SH_RA	brain:	n/a
28	chr19:56915403-56915453	Hela-S3	cervix:	n/a
29	chr19:56915403-56915453	A549	lung:	n/a
30	chr19:56915403-56915453	Caco-2	colon:	n/a
31	chr19:56915403-56915453	MCF10A-Er-Src	breast:	n/a
32	chr19:56915403-56915453	HEEpiC	esophagus:	n/a
33	chr19:56915403-56915453	HMEC	breast:	n/a
34	chr19:56915403-56915453	SAEC	small airway:	n/a
35	chr19:56915403-56915453	BE2_C	brain:	n/a
36	chr19:56915403-56915453	HEK293	kidney:	embryo
37	chr19:56915403-56915453	HRE	kidney:	n/a
38	chr19:56915403-56915453	CMK	blood:	n/a
39	chr19:56915403-56915453	PrEC	prostate:	n/a
40	chr19:56915403-56915453	H1-hESC	embryonic stem cell:	embryo
41	chr19:56915403-56915453	ovcar-3	ovarian:	n/a
42	chr19:56915403-56915453	GM12891	blood:	n/a
43	chr19:56915403-56915453	T-47D	breast:	n/a
44	chr19:56915403-56915453	HAEpiC	amniotic membrane:	n/a
45	chr19:56915403-56915453	GM12892	blood:	n/a
46	chr19:56915403-56915453	HepG2	liver:	n/a
47	chr19:56915403-56915453	AG04450	lung:	fetal
48	chr19:56915403-56915453	RPTEC	kidney:	n/a
49	chr19:56915403-56915453	HPAEpiC	pulmonary alveolar:	n/a
50	chr19:56915403-56915453	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:56902006..56908060-chr19:56909612..56917978,15	K562	blood:
2	chr19:56824960..56826803-chr19:56913604..56915630,2	K562	blood:
3	chr19:56902257..56906485-chr19:56913118..56917978,7	K562	blood:

Variant related genes	Relation type
ZNF583	TF binding region
ZNF583	CpG island
ENSG00000131848	Chromatin interaction
ENSG00000266631	Chromatin interaction
ENSG00000018869	Chromatin interaction
ENSG00000267549	Chromatin interaction
ENSG00000267454	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10401365	1.00[AMR][1000 genomes]
rs10408970	1.00[AMR][1000 genomes]
rs10419992	1.00[AMR][1000 genomes]
rs59829089	1.00[AMR][1000 genomes]
rs73621260	1.00[AMR][1000 genomes]
rs73621264	1.00[AMR][1000 genomes]
rs8100609	1.00[AMR][1000 genomes]
rs8100715	1.00[AMR][1000 genomes]
rs8109989	1.00[AMR][1000 genomes]
rs8110143	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8110200	1.00[AMR][1000 genomes]
rs8111813	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8113261	0.83[AMR][1000 genomes]
rs8113288	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	nsv544096	chr19:56905651-56933455	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	esv3373403	chr19:56913940-56918638	Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3389334	chr19:56914840-56917838	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56914200-56916000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr19:56914200-56916000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr19:56914200-56916000	Active TSS	HSMMtube	muscle
4	chr19:56914200-56916000	Active TSS	NHDF-Ad	bronchial
5	chr19:56914200-56916200	Active TSS	Muscle Satellite Cultured Cells	--
6	chr19:56914400-56915800	Active TSS	Stomach Smooth Muscle	stomach
7	chr19:56914400-56915800	Active TSS	HSMM	muscle
8	chr19:56914400-56915800	Active TSS	Osteobl	bone
9	chr19:56914400-56916000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr19:56914400-56916000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr19:56914400-56916000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:56914400-56916000	Active TSS	Brain Cingulate Gyrus	brain
13	chr19:56914400-56916000	Active TSS	Fetal Brain Female	brain
14	chr19:56914400-56916000	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr19:56914400-56916000	Active TSS	NHLF	lung
16	chr19:56914400-56916200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:56914400-56916400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr19:56914400-56916800	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr19:56914600-56915800	Active TSS	H9 Cell Line	embryonic stem cell
20	chr19:56914600-56915800	Active TSS	Esophagus	oesophagus
21	chr19:56914600-56916000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:56914600-56916000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:56914600-56916000	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr19:56914600-56916000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:56914600-56916000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:56914600-56916000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:56914600-56916000	Active TSS	Colonic Mucosa	Colon
28	chr19:56914600-56916000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr19:56914600-56916000	Active TSS	Gastric	stomach
30	chr19:56914600-56916000	Active TSS	NH-A	brain
31	chr19:56914600-56916200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr19:56914600-56916200	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr19:56914600-56916200	Active TSS	Fetal Intestine Large	intestine
34	chr19:56914600-56916400	Active TSS	Psoas Muscle	Psoas
35	chr19:56914600-56916800	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr19:56914600-56916800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:56914600-56917600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr19:56914800-56915800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:56914800-56915800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:56914800-56915800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:56914800-56915800	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr19:56914800-56915800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr19:56914800-56915800	Active TSS	Duodenum Mucosa	Duodenum
44	chr19:56914800-56915800	Active TSS	Fetal Kidney	kidney
45	chr19:56914800-56915800	Active TSS	Placenta	Placenta
46	chr19:56914800-56915800	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr19:56914800-56915800	Active TSS	Thymus	Thymus
48	chr19:56914800-56915800	Active TSS	A549	lung
49	chr19:56914800-56915800	Active TSS	HepG2	liver
50	chr19:56914800-56915800	Active TSS	HMEC	breast

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