Variant report

Variant	rs73931040
Chromosome Location	chr19:37020181-37020182
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:110)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:110 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:37018795-37020195	GM12892	blood:	n/a	n/a
2	POLR2A	chr19:37018919-37020220	Hela-S3	cervix:	n/a	n/a
3	RELA	chr19:37018840-37020359	GM19099	blood:	n/a	n/a
4	POLR2A	chr19:37018698-37020410	GM12878	blood:	n/a	n/a
5	USF2	chr19:37019353-37020234	GM12878	blood:	n/a	n/a
6	SIN3A	chr19:37018472-37020398	H1-hESC	embryonic stem cell:	n/a	chr19:37019675-37019684
7	ETS1	chr19:37018763-37020270	A549	lung:	n/a	chr19:37019594-37019607 chr19:37019595-37019608
8	EP300	chr19:37019064-37020211	K562	blood:	n/a	n/a
9	GATA3	chr19:37018559-37020324	A549	lung:	n/a	n/a
10	BACH1	chr19:37018803-37020374	H1-hESC	embryonic stem cell:	n/a	n/a
11	KAP1	chr19:37019061-37020181	U2OS	brain:	n/a	n/a
12	RELA	chr19:37018903-37020427	GM15510	blood:	n/a	n/a
13	WRNIP1	chr19:37018999-37020369	GM12878	blood:	n/a	n/a
14	TBP	chr19:37018302-37020382	GM12878	blood:	n/a	n/a
15	POLR2A	chr19:37018781-37020382	GM12878	blood:	n/a	n/a
16	CREB1	chr19:37018779-37020265	HepG2	liver:	n/a	n/a
17	MAZ	chr19:37018784-37020401	K562	blood:	n/a	n/a
18	MYC	chr19:37019110-37020212	H1-hESC	embryonic stem cell:	n/a	n/a
19	EBF1	chr19:37018293-37020496	GM12878	blood:	n/a	n/a
20	MXI1	chr19:37018889-37020204	HepG2	liver:	n/a	n/a
21	RUNX3	chr19:37018834-37020253	GM12878	blood:	n/a	n/a
22	POLR2A	chr19:37018728-37020396	GM12892	blood:	n/a	n/a
23	POLR2A	chr19:37018843-37020202	GM19193	blood:	n/a	n/a
24	SIN3A	chr19:37018969-37020194	GM12878	blood:	n/a	chr19:37019675-37019684
25	CTCF	chr19:37020120-37020270	GM12873	blood:	n/a	n/a
26	SIN3AK20	chr19:37018688-37020197	MCF-7	breast:	n/a	n/a
27	POLR2A	chr19:37018897-37020279	GM12878	blood:	n/a	n/a
28	RELA	chr19:37019364-37020357	GM18526	blood:	n/a	n/a
29	STAT1	chr19:37018789-37020364	GM12878	blood:	n/a	chr19:37019588-37019611 chr19:37019490-37019498 chr19:37019603-37019611
30	MXI1	chr19:37018241-37020454	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr19:37018879-37020242	GM12878	blood:	n/a	n/a
32	ATF1	chr19:37019094-37020263	K562	blood:	n/a	n/a
33	SMC3	chr19:37018866-37020366	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr19:37018913-37020247	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:37018869-37020227	HepG2	liver:	n/a	n/a
36	TCF7L2	chr19:37019046-37020216	Hela-S3	cervix:	n/a	n/a
37	MAX	chr19:37019004-37020251	Hela-S3	cervix:	n/a	n/a
38	MAFK	chr19:37018933-37020241	Hela-S3	cervix:	n/a	n/a
39	BCL3	chr19:37018782-37020197	A549	lung:	n/a	n/a
40	CHD1	chr19:37018052-37020289	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr19:37018833-37020461	GM12878	blood:	n/a	n/a
42	SP1	chr19:37018787-37020339	A549	lung:	n/a	chr19:37019627-37019641 chr19:37018953-37018967 chr19:37019627-37019636 chr19:37019626-37019638 chr19:37019628-37019637 chr19:37019626-37019638
43	REST	chr19:37018653-37020216	A549	lung:	n/a	chr19:37019672-37019686 chr19:37019651-37019664 chr19:37019674-37019684
44	BHLHE40	chr19:37018960-37020444	GM12878	blood:	n/a	n/a
45	POLR2A	chr19:37018889-37020309	GM12891	blood:	n/a	n/a
46	POLR2A	chr19:37018610-37020274	MCF10A-Er-Src	breast:	n/a	n/a
47	ZMIZ1	chr19:37018918-37020198	K562	blood:	n/a	n/a
48	POLR2A	chr19:37018858-37020232	GM12892	blood:	n/a	n/a
49	MAX	chr19:37018681-37020302	A549	lung:	n/a	n/a
50	BHLHE40	chr19:37018842-37020195	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:37020172-37020222	AG09319	gingival:	n/a
2	chr19:37020172-37020222	HL-60	blood:	n/a
3	chr19:37020172-37020222	BE2_C	brain:	n/a
4	chr19:37020172-37020222	HCF	heart:	n/a
5	chr19:37020172-37020222	GM12878	blood:	n/a
6	chr19:37020172-37020222	HCPEpiC	choroid plexus:	n/a
7	chr19:37020172-37020222	NT2-D1	testis:	n/a
8	chr19:37020172-37020222	ovcar-3	ovarian:	n/a
9	chr19:37020172-37020222	HPAEpiC	pulmonary alveolar:	n/a
10	chr19:37020172-37020222	SAEC	small airway:	n/a
11	chr19:37020172-37020222	NH-A	brain:	n/a
12	chr19:37020172-37020222	LNCaP	prostate:	n/a
13	chr19:37020172-37020222	HEK293	kidney:	embryo
14	chr19:37020172-37020222	GM12891	blood:	n/a
15	chr19:37020172-37020222	GM19239	blood:	n/a
16	chr19:37020172-37020222	U87	brain:	n/a
17	chr19:37020172-37020222	GM06990	blood:	n/a
18	chr19:37020172-37020222	HAEpiC	amniotic membrane:	n/a
19	chr19:37020172-37020222	AoSMC	blood vessel:	n/a
20	chr19:37020172-37020222	RPTEC	kidney:	n/a
21	chr19:37020172-37020222	SK-N-SH_RA	brain:	n/a
22	chr19:37020172-37020222	SK-N-MC	brain:	n/a
23	chr19:37020172-37020222	NB4	blood:	n/a
24	chr19:37020172-37020222	HCT-116	colon:	n/a
25	chr19:37020172-37020222	MCF10A-Er-Src	breast:	n/a
26	chr19:37020172-37020222	MCF-7	breast:	n/a
27	chr19:37020172-37020222	GM12892	blood:	n/a
28	chr19:37020172-37020222	HEEpiC	esophagus:	n/a
29	chr19:37020172-37020222	AG10803	skin:	n/a
30	chr19:37020172-37020222	HRCEpiC	kidney:	n/a
31	chr19:37020172-37020222	HIPEpiC	eye:	n/a
32	chr19:37020172-37020222	AG04450	lung:	fetal
33	chr19:37020172-37020222	HRE	kidney:	n/a
34	chr19:37020172-37020222	HCM	heart:	n/a
35	chr19:37020172-37020222	Jurkat	blood:	n/a
36	chr19:37020172-37020222	AG09309	skin:	n/a
37	chr19:37020172-37020222	SK-N-SH	brain:	n/a
38	chr19:37020172-37020222	SKMC	muscle:	n/a
39	chr19:37020172-37020222	PrEC	prostate:	n/a
40	chr19:37020172-37020222	HUVEC	blood vessel:	n/a
41	chr19:37020172-37020222	Hela-S3	cervix:	n/a
42	chr19:37020172-37020222	K562	blood:	n/a
43	chr19:37020172-37020222	ECC-1	luminal epithelium:	n/a
44	chr19:37020172-37020222	T-47D	breast:	n/a
45	chr19:37020172-37020222	NHBE	bronchial:	n/a
46	chr19:37020172-37020222	HRPEpiC	eye:	n/a
47	chr19:37020172-37020222	PANC-1	pancreas:	n/a
48	chr19:37020172-37020222	HNPCEpiC	eye:	n/a
49	chr19:37020172-37020222	CMK	blood:	n/a
50	chr19:37020172-37020222	Caco-2	colon:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36978821..36980790-chr19:37017858..37020685,3	K562	blood:
2	chr19:37019103..37021335-chr19:37062459..37064743,4	K562	blood:
3	chr19:36869703..36871321-chr19:37018127..37020542,2	K562	blood:
4	chr19:36979124..36982554-chr19:37017679..37020247,4	MCF-7	breast:
5	chr19:37019171..37020688-chr19:37117854..37120209,2	K562	blood:
6	chr19:36978148..36981795-chr19:37018105..37021194,8	K562	blood:
7	chr19:37017852..37021325-chr19:37033943..37038779,6	K562	blood:
8	chr19:37018711..37023188-chr19:37060299..37065354,5	K562	blood:
9	chr19:36868756..36870628-chr19:37018916..37021157,2	MCF-7	breast:
10	chr19:37012845..37016384-chr19:37017166..37020287,4	K562	blood:
11	chr19:37017989..37021035-chr19:37064029..37066517,3	MCF-7	breast:
12	chr19:36979323..36981752-chr19:37018816..37021173,2	MCF-7	breast:
13	chr19:37019843..37021429-chr19:37026140..37028875,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF260	TF binding region
ZNF260	CpG island
ENSG00000186020	Chromatin interaction
ENSG00000266973	Chromatin interaction
ENSG00000142065	Chromatin interaction
ENSG00000186017	Chromatin interaction
ENSG00000254004	Chromatin interaction
ENSG00000233527	Chromatin interaction
ENSG00000267309	Chromatin interaction
ENSG00000266935	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs55885724	1.00[AFR][1000 genomes]
rs55981753	1.00[AFR][1000 genomes]
rs56836606	1.00[AFR][1000 genomes]
rs57422489	1.00[AFR][1000 genomes]
rs57586526	1.00[AFR][1000 genomes]
rs57678022	1.00[AFR][1000 genomes]
rs58078073	1.00[AFR][1000 genomes]
rs58361065	0.83[AFR][1000 genomes]
rs58403474	1.00[AFR][1000 genomes]
rs59329149	0.83[AFR][1000 genomes]
rs60132516	1.00[AFR][1000 genomes]
rs60808598	1.00[AFR][1000 genomes]
rs61082544	1.00[AFR][1000 genomes]
rs61481244	1.00[AFR][1000 genomes]
rs73929009	1.00[AFR][1000 genomes]
rs73929011	1.00[AFR][1000 genomes]
rs73929123	1.00[AFR][1000 genomes]
rs73929124	1.00[AFR][1000 genomes]
rs73929127	1.00[AFR][1000 genomes]
rs73929170	1.00[AFR][1000 genomes]
rs73929171	1.00[AFR][1000 genomes]
rs73929178	1.00[AFR][1000 genomes]
rs73931028	1.00[AFR][1000 genomes]
rs73931029	1.00[AFR][1000 genomes]
rs73931030	1.00[AFR][1000 genomes]
rs73931036	1.00[AFR][1000 genomes]
rs73931037	1.00[AFR][1000 genomes]
rs73931038	1.00[AFR][1000 genomes]
rs73931626	1.00[AFR][1000 genomes]
rs73931627	1.00[AFR][1000 genomes]
rs73931629	1.00[AFR][1000 genomes]
rs73931634	1.00[AFR][1000 genomes]
rs73931636	1.00[AFR][1000 genomes]
rs73931639	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised 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	61 gene(s)	inside rSNPs	diseases
5	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers 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	61 gene(s)	inside rSNPs	diseases
6	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 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	chr19:37017600-37020600	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr19:37017600-37020600	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr19:37017800-37020200	Active TSS	Fetal Muscle Trunk	muscle
4	chr19:37017800-37020600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:37017800-37020600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:37018000-37020400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr19:37018000-37020400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:37018000-37020400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:37018000-37020400	Active TSS	HSMM	muscle
10	chr19:37018000-37021000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:37018000-37021000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr19:37018000-37021000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr19:37018200-37020200	Active TSS	Muscle Satellite Cultured Cells	--
14	chr19:37018200-37020200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:37018200-37020200	Active TSS	Colon Smooth Muscle	Colon
16	chr19:37018200-37020200	Active TSS	Fetal Brain Female	brain
17	chr19:37018200-37020200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr19:37018200-37020400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr19:37018200-37020400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr19:37018200-37020400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:37018200-37020600	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr19:37018200-37020600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr19:37018200-37020600	Active TSS	GM12878-XiMat	blood
24	chr19:37018200-37020800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:37018200-37020800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:37018400-37020200	Active TSS	Fetal Intestine Small	intestine
27	chr19:37018400-37020200	Active TSS	Stomach Mucosa	stomach
28	chr19:37018400-37020400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr19:37018400-37020400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:37018400-37020400	Active TSS	Fetal Intestine Large	intestine
31	chr19:37018400-37020600	Active TSS	Psoas Muscle	Psoas
32	chr19:37018600-37020200	Active TSS	Placenta Amnion	Placenta Amnion
33	chr19:37018800-37020200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:37019200-37020200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr19:37019600-37020200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr19:37019600-37020400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr19:37019600-37020400	Flanking Active TSS	HUVEC	blood vessel
38	chr19:37019600-37020600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:37019800-37020200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:37019800-37020200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:37019800-37020200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr19:37019800-37020200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr19:37019800-37020200	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr19:37019800-37020200	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr19:37019800-37020200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr19:37019800-37020200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr19:37019800-37020200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:37019800-37020200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:37019800-37020200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr19:37019800-37020200	Flanking Active TSS	Fetal Thymus	thymus

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