Variant report

Variant	rs73621270
Chromosome Location	chr19:56915121-56915122
allele	C/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	POLR2A	chr19:56915085-56916074	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:56915065-56916095	GM12892	blood:	n/a	n/a
3	SIN3A	chr19:56915024-56916281	H1-hESC	embryonic stem cell:	n/a	chr19:56915778-56915791 chr19:56915838-56915851 chr19:56915759-56915772
4	POLR2A	chr19:56915045-56915964	GM19193	blood:	n/a	n/a
5	POLR2A	chr19:56914969-56916416	HepG2	liver:	n/a	n/a
6	MAX	chr19:56915033-56916215	GM12878	blood:	n/a	chr19:56915768-56915778
7	POLR2A	chr19:56914963-56916502	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr19:56914732-56916168	GM12891	blood:	n/a	n/a
9	RCOR1	chr19:56914840-56916245	GM12878	blood:	n/a	n/a
10	MAX	chr19:56915028-56916226	ECC-1	luminal epithelium:	n/a	chr19:56915768-56915778
11	POLR2A	chr19:56915045-56916527	GM12892	blood:	n/a	n/a
12	POLR2A	chr19:56914957-56915984	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr19:56915065-56915963	GM18951	blood:	n/a	n/a
14	POLR2A	chr19:56915105-56916147	K562	blood:	n/a	n/a
15	POLR2A	chr19:56915070-56916025	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:56915093-56916075	ECC-1	luminal epithelium:	n/a	n/a
17	TCF12	chr19:56914824-56916112	A549	lung:	n/a	chr19:56915677-56915687 chr19:56915441-56915451 chr19:56915290-56915297
18	SETDB1	chr19:56915113-56916088	K562	blood:	n/a	chr19:56915447-56915456 chr19:56915665-56915689 chr19:56915386-56915395
19	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
20	PAX5	chr19:56915069-56915691	GM12878	blood:	n/a	chr19:56915228-56915237 chr19:56915386-56915395
21	RELA	chr19:56914678-56915716	GM19099	blood:	n/a	n/a
22	RELA	chr19:56914619-56916125	GM12891	blood:	n/a	n/a
23	ETS1	chr19:56915046-56915977	A549	lung:	n/a	chr19:56915665-56915678
24	ELF1	chr19:56915044-56915971	GM12878	blood:	n/a	n/a
25	ETS1	chr19:56915045-56916035	K562	blood:	n/a	chr19:56915665-56915678
26	MAX	chr19:56915068-56916185	SK-N-SH	brain:	n/a	chr19:56915768-56915778
27	CHD2	chr19:56915107-56916284	GM12878	blood:	n/a	chr19:56915710-56915717
28	ELF1	chr19:56915015-56915847	GM12878	blood:	n/a	n/a
29	POLR2A	chr19:56915044-56916013	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr19:56914908-56915919	PFSK-1	brain:	n/a	n/a
31	RELA	chr19:56914797-56915554	GM18526	blood:	n/a	n/a
32	MAX	chr19:56915087-56916321	HepG2	liver:	n/a	chr19:56916261-56916270 chr19:56915768-56915778 chr19:56916261-56916272 chr19:56916253-56916269
33	TAF1	chr19:56915082-56915789	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr19:56914980-56916449	H1-neurons	neurons:	n/a	n/a
35	TAF1	chr19:56914987-56915904	H1-neurons	neurons:	n/a	n/a
36	YY1	chr19:56915082-56916066	SK-N-SH	brain:	n/a	n/a
37	MAX	chr19:56915061-56916244	ECC-1	luminal epithelium:	n/a	chr19:56915768-56915778
38	POLR2A	chr19:56915072-56915855	PANC-1	pancreas:	n/a	n/a
39	RELA	chr19:56914760-56916057	GM15510	blood:	n/a	n/a
40	MXI1	chr19:56915017-56916094	GM12878	blood:	n/a	n/a
41	POLR2A	chr19:56914985-56916074	GM19099	blood:	n/a	n/a
42	POLR2A	chr19:56915079-56915435	ProgFib	skin:	n/a	n/a
43	POLR2A	chr19:56915097-56916202	GM12891	blood:	n/a	n/a
44	MAX	chr19:56914886-56916454	A549	lung:	n/a	chr19:56916261-56916270 chr19:56915768-56915778 chr19:56916261-56916272 chr19:56916253-56916269
45	MAX	chr19:56914973-56916376	A549	lung:	n/a	chr19:56916261-56916270 chr19:56915768-56915778 chr19:56916261-56916272 chr19:56916253-56916269
46	POLR2A	chr19:56915110-56915978	GM15510	blood:	n/a	n/a
47	TAF1	chr19:56915108-56916016	SK-N-SH	brain:	n/a	n/a
48	REST	chr19:56914735-56916580	H1-neurons	neurons:	n/a	chr19:56915759-56915772 chr19:56915847-56915857
49	POLR2A	chr19:56915017-56916051	HUVEC	blood vessel:	n/a	n/a
50	REST	chr19:56915054-56915426	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56915079-56915129	GM06990	blood:	n/a
2	chr19:56915079-56915129	GM12878	blood:	n/a
3	chr19:56915079-56915129	HIPEpiC	eye:	n/a
4	chr19:56915079-56915129	LNCaP	prostate:	n/a
5	chr19:56915079-56915129	HCF	heart:	n/a
6	chr19:56915079-56915129	HMEC	breast:	n/a
7	chr19:56915079-56915129	SKMC	muscle:	n/a
8	chr19:56915079-56915129	BE2_C	brain:	n/a
9	chr19:56915079-56915129	HCPEpiC	choroid plexus:	n/a
10	chr19:56915079-56915129	ECC-1	luminal epithelium:	n/a
11	chr19:56915079-56915129	SK-N-MC	brain:	n/a
12	chr19:56915079-56915129	NB4	blood:	n/a
13	chr19:56915079-56915129	AG09319	gingival:	n/a
14	chr19:56915079-56915129	HEK293	kidney:	embryo
15	chr19:56915079-56915129	GM12892	blood:	n/a
16	chr19:56915079-56915129	RPTEC	kidney:	n/a
17	chr19:56915079-56915129	HNPCEpiC	eye:	n/a
18	chr19:56915079-56915129	PrEC	prostate:	n/a
19	chr19:56915079-56915129	HEEpiC	esophagus:	n/a
20	chr19:56915079-56915129	U87	brain:	n/a
21	chr19:56915079-56915129	ProgFib	skin:	n/a
22	chr19:56915079-56915129	AoSMC	blood vessel:	n/a
23	chr19:56915079-56915129	ovcar-3	ovarian:	n/a
24	chr19:56915079-56915129	Jurkat	blood:	n/a
25	chr19:56915079-56915129	IMR90	lung:	fetal
26	chr19:56915079-56915129	GM19239	blood:	n/a
27	chr19:56915079-56915129	MCF-7	breast:	n/a
28	chr19:56915079-56915129	PANC-1	pancreas:	n/a
29	chr19:56915079-56915129	AG10803	skin:	n/a
30	chr19:56915079-56915129	HRE	kidney:	n/a
31	chr19:56915079-56915129	PFSK-1	brain:	n/a
32	chr19:56915079-56915129	T-47D	breast:	n/a
33	chr19:56915079-56915129	Hela-S3	cervix:	n/a
34	chr19:56915079-56915129	BJ	skin:	n/a
35	chr19:56915079-56915129	HRPEpiC	eye:	n/a
36	chr19:56915079-56915129	NHBE	bronchial:	n/a
37	chr19:56915079-56915129	Hepatocyte	liver:	n/a
38	chr19:56915079-56915129	CMK	blood:	n/a
39	chr19:56915079-56915129	HPAEpiC	pulmonary alveolar:	n/a
40	chr19:56915079-56915129	NH-A	brain:	n/a
41	chr19:56915079-56915129	AG04450	lung:	fetal
42	chr19:56915079-56915129	AG04449	skin:	fetal
43	chr19:56915079-56915129	SK-N-SH	brain:	n/a
44	chr19:56915079-56915129	GM12891	blood:	n/a
45	chr19:56915079-56915129	Caco-2	colon:	n/a
46	chr19:56915079-56915129	NHDF-neo	bronchial:	n/a
47	chr19:56915079-56915129	H1-hESC	embryonic stem cell:	embryo
48	chr19:56915079-56915129	HRCEpiC	kidney:	n/a
49	chr19:56915079-56915129	HUVEC	blood vessel:	n/a
50	chr19:56915079-56915129	HAEpiC	amniotic membrane:	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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF582-1	chr19:56914145-56915302	NONHSAT068149

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs57739622	0.90[AFR][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	chr19:56914200-56915200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
2	chr19:56914200-56915200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:56914200-56916000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr19:56914200-56916000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr19:56914200-56916000	Active TSS	HSMMtube	muscle
6	chr19:56914200-56916000	Active TSS	NHDF-Ad	bronchial
7	chr19:56914200-56916200	Active TSS	Muscle Satellite Cultured Cells	--
8	chr19:56914400-56915200	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr19:56914400-56915200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:56914400-56915200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr19:56914400-56915800	Active TSS	Stomach Smooth Muscle	stomach
12	chr19:56914400-56915800	Active TSS	HSMM	muscle
13	chr19:56914400-56915800	Active TSS	Osteobl	bone
14	chr19:56914400-56916000	Active TSS	H1 Cell Line	embryonic stem cell
15	chr19:56914400-56916000	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr19:56914400-56916000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:56914400-56916000	Active TSS	Brain Cingulate Gyrus	brain
18	chr19:56914400-56916000	Active TSS	Fetal Brain Female	brain
19	chr19:56914400-56916000	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr19:56914400-56916000	Active TSS	NHLF	lung
21	chr19:56914400-56916200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:56914400-56916400	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr19:56914400-56916800	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr19:56914600-56915200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr19:56914600-56915200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr19:56914600-56915200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr19:56914600-56915200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr19:56914600-56915200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr19:56914600-56915200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr19:56914600-56915200	Active TSS	Right Atrium	heart
31	chr19:56914600-56915200	Flanking Active TSS	HUVEC	blood vessel
32	chr19:56914600-56915200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr19:56914600-56915400	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr19:56914600-56915400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr19:56914600-56915800	Active TSS	H9 Cell Line	embryonic stem cell
36	chr19:56914600-56915800	Active TSS	Esophagus	oesophagus
37	chr19:56914600-56916000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:56914600-56916000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr19:56914600-56916000	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr19:56914600-56916000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:56914600-56916000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:56914600-56916000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:56914600-56916000	Active TSS	Colonic Mucosa	Colon
44	chr19:56914600-56916000	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr19:56914600-56916000	Active TSS	Gastric	stomach
46	chr19:56914600-56916000	Active TSS	NH-A	brain
47	chr19:56914600-56916200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr19:56914600-56916200	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr19:56914600-56916200	Active TSS	Fetal Intestine Large	intestine
50	chr19:56914600-56916400	Active TSS	Psoas Muscle	Psoas

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