Variant report

Variant	rs7257537
Chromosome Location	chr19:38806772-38806773
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:287)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:38806505-38807125	A549	lung:	n/a	n/a
2	BHLHE40	chr19:38806202-38807157	GM12878	blood:	n/a	n/a
3	JUND	chr19:38806698-38806979	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr19:38806700-38806850	HCPEpiC	choroid plexus:	n/a	chr19:38806823-38806836
5	MAZ	chr19:38806264-38806902	HepG2	liver:	n/a	n/a
6	NFYB	chr19:38806500-38807029	GM12878	blood:	n/a	n/a
7	TBP	chr19:38806744-38807159	GM12878	blood:	n/a	n/a
8	GTF2B	chr19:38806383-38806974	K562	blood:	n/a	n/a
9	MYC	chr19:38806462-38806907	MCF-7	breast:	n/a	n/a
10	NR2F2	chr19:38805776-38807445	K562	blood:	n/a	chr19:38806412-38806427 chr19:38806409-38806424
11	POLR2A	chr19:38806237-38807061	GM18526	blood:	n/a	n/a
12	YY1	chr19:38806293-38807043	HepG2	liver:	n/a	chr19:38806562-38806571
13	POLR2A	chr19:38806341-38806990	MCF-7	breast:	n/a	n/a
14	POLR2A	chr19:38806677-38806962	A549	lung:	n/a	n/a
15	POLR2A	chr19:38806688-38807120	HCT-116	colon:	n/a	n/a
16	UBTF	chr19:38806417-38807137	K562	blood:	n/a	n/a
17	STAT5A	chr19:38806701-38807288	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:38806284-38807173	GM12878	blood:	n/a	n/a
19	CEBPD	chr19:38806552-38806835	HepG2	liver:	n/a	n/a
20	BHLHE40	chr19:38806202-38806895	HepG2	liver:	n/a	n/a
21	EBF1	chr19:38806585-38806979	GM12878	blood:	n/a	chr19:38806820-38806831
22	MAX	chr19:38806395-38806958	Hela-S3	cervix:	n/a	n/a
23	HEY1	chr19:38806681-38807288	K562	blood:	n/a	n/a
24	SIN3AK20	chr19:38806703-38807356	A549	lung:	n/a	n/a
25	GTF3C2	chr19:38806271-38807387	K562	blood:	n/a	n/a
26	STAT1	chr19:38806576-38806942	GM12878	blood:	n/a	n/a
27	POU2F2	chr19:38806698-38807284	GM12891	blood:	n/a	n/a
28	SIN3A	chr19:38806101-38806961	GM12878	blood:	n/a	n/a
29	RFX5	chr19:38806735-38807083	HepG2	liver:	n/a	n/a
30	BCL3	chr19:38805728-38807472	A549	lung:	n/a	n/a
31	USF1	chr19:38806164-38807127	A549	lung:	n/a	n/a
32	POLR2A	chr19:38806728-38806984	HepG2	liver:	n/a	n/a
33	POLR2A	chr19:38806713-38807033	K562	blood:	n/a	n/a
34	CEBPB	chr19:38806361-38806974	HepG2	liver:	n/a	n/a
35	GTF2F1	chr19:38806468-38807003	K562	blood:	n/a	n/a
36	E2F6	chr19:38806433-38806860	K562	blood:	n/a	chr19:38806619-38806628
37	EGR1	chr19:38806295-38806882	GM12878	blood:	n/a	chr19:38806667-38806677 chr19:38806723-38806730 chr19:38806667-38806680 chr19:38806457-38806471
38	CTCF	chr19:38806740-38806890	HBMEC	blood vessel:	n/a	chr19:38806823-38806836
39	CEBPB	chr19:38806490-38807141	A549	lung:	n/a	n/a
40	FOS	chr19:38806689-38806872	MCF10A-Er-Src	breast:	n/a	n/a
41	FOXP2	chr19:38806491-38806791	SK-N-MC	brain:	n/a	n/a
42	ZMIZ1	chr19:38805988-38807224	K562	blood:	n/a	n/a
43	SP1	chr19:38806537-38806982	GM12878	blood:	n/a	chr19:38806671-38806681 chr19:38806670-38806682 chr19:38806665-38806679 chr19:38806672-38806681 chr19:38806635-38806656 chr19:38806670-38806682 chr19:38806613-38806623
44	POLR2A	chr19:38806264-38807173	U87	brain:	n/a	n/a
45	TBP	chr19:38806763-38807119	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr19:38806700-38806975	A549	lung:	n/a	n/a
47	FOS	chr19:38806749-38806940	MCF10A-Er-Src	breast:	n/a	n/a
48	CTCF	chr19:38806760-38806910	HEK293	kidney:	n/a	chr19:38806823-38806836
49	YY1	chr19:38806119-38806980	K562	blood:	n/a	chr19:38806562-38806571
50	POLR2A	chr19:38806685-38807132	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:38806746-38806796	SK-N-MC	brain:	n/a
2	chr19:38806746-38806796	GM06990	blood:	n/a
3	chr19:38806746-38806796	HAEpiC	amniotic membrane:	n/a
4	chr19:38806746-38806796	HL-60	blood:	n/a
5	chr19:38806746-38806796	AG09319	gingival:	n/a
6	chr19:38806746-38806796	HCM	heart:	n/a
7	chr19:38806746-38806796	ECC-1	luminal epithelium:	n/a
8	chr19:38806746-38806796	HRPEpiC	eye:	n/a
9	chr19:38806746-38806796	AG10803	skin:	n/a
10	chr19:38806746-38806796	GM19239	blood:	n/a
11	chr19:38806746-38806796	BE2_C	brain:	n/a
12	chr19:38806746-38806796	PFSK-1	brain:	n/a
13	chr19:38806746-38806796	CMK	blood:	n/a
14	chr19:38806746-38806796	IMR90	lung:	fetal
15	chr19:38806746-38806796	PrEC	prostate:	n/a
16	chr19:38806746-38806796	NT2-D1	testis:	n/a
17	chr19:38806746-38806796	RPTEC	kidney:	n/a
18	chr19:38806746-38806796	MCF10A-Er-Src	breast:	n/a
19	chr19:38806746-38806796	GM12892	blood:	n/a
20	chr19:38806746-38806796	T-47D	breast:	n/a
21	chr19:38806746-38806796	HCF	heart:	n/a
22	chr19:38806746-38806796	BJ	skin:	n/a
23	chr19:38806746-38806796	HRCEpiC	kidney:	n/a
24	chr19:38806746-38806796	Hela-S3	cervix:	n/a
25	chr19:38806746-38806796	HIPEpiC	eye:	n/a
26	chr19:38806746-38806796	LNCaP	prostate:	n/a
27	chr19:38806746-38806796	A549	lung:	n/a
28	chr19:38806746-38806796	HMEC	breast:	n/a
29	chr19:38806746-38806796	U87	brain:	n/a
30	chr19:38806746-38806796	Hepatocyte	liver:	n/a
31	chr19:38806746-38806796	GM12878	blood:	n/a
32	chr19:38806746-38806796	NHBE	bronchial:	n/a
33	chr19:38806746-38806796	HRE	kidney:	n/a
34	chr19:38806746-38806796	HCT-116	colon:	n/a
35	chr19:38806746-38806796	Jurkat	blood:	n/a
36	chr19:38806746-38806796	AG04450	lung:	fetal
37	chr19:38806746-38806796	NB4	blood:	n/a
38	chr19:38806746-38806796	GM12891	blood:	n/a
39	chr19:38806746-38806796	AG04449	skin:	fetal
40	chr19:38806746-38806796	HEEpiC	esophagus:	n/a
41	chr19:38806746-38806796	PANC-1	pancreas:	n/a
42	chr19:38806746-38806796	HUVEC	blood vessel:	n/a
43	chr19:38806746-38806796	HCPEpiC	choroid plexus:	n/a
44	chr19:38806746-38806796	HNPCEpiC	eye:	n/a
45	chr19:38806746-38806796	ProgFib	skin:	n/a
46	chr19:38806746-38806796	AG09309	skin:	n/a
47	chr19:38806746-38806796	HepG2	liver:	n/a
48	chr19:38806746-38806796	AoSMC	blood vessel:	n/a
49	chr19:38806746-38806796	NHDF-neo	bronchial:	n/a
50	chr19:38806746-38806796	SAEC	small airway:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38806188..38807107-chr7:6414078..6414612,2	Hela-S3	cervix:
2	chr19:38804679..38808674-chr19:38824887..38827856,7	K562	blood:
3	chr19:38805296..38807779-chr19:38877097..38880049,2	K562	blood:
4	chr19:38806332..38809400-chr19:38825014..38828541,5	K562	blood:
5	chr19:38800007..38802686-chr19:38805252..38808238,5	K562	blood:
6	chr19:38755234..38758154-chr19:38804246..38806924,3	K562	blood:
7	chr19:38746183..38748575-chr19:38806704..38809483,2	K562	blood:
8	chr19:38804471..38807313-chr19:38874109..38876554,2	MCF-7	breast:
9	chr19:38805271..38808237-chr19:39322535..39325453,2	K562	blood:
10	chr19:38755242..38758154-chr19:38804246..38806924,2	K562	blood:
11	chr19:38804503..38806796-chr19:38878549..38880159,2	K562	blood:
12	chr19:38753883..38755727-chr19:38805197..38807267,2	MCF-7	breast:
13	chr19:38795298..38801659-chr19:38801673..38807893,10	K562	blood:
14	chr19:38806279..38807928-chr19:38863720..38866328,2	K562	blood:
15	chr19:38745470..38748025-chr19:38806544..38809528,4	K562	blood:

No data

Variant related genes	Relation type
YIF1B	TF binding region
KCNK6	TF binding region
KCNK6	CpG island
YIF1B	CpG island
ENSG00000167641	Chromatin interaction
ENSG00000104823	Chromatin interaction
ENSG00000099341	Chromatin interaction
ENSG00000267090	Chromatin interaction
ENSG00000188766	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000136238	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000167645	Chromatin interaction
ENSG00000179168	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11881305	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12609247	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12611255	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1821284	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2270095	0.88[AFR][1000 genomes]
rs3178327	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35436012	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3843754	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4312417	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4802324	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59898212	0.81[AFR][1000 genomes]
rs61160177	0.86[AMR][1000 genomes]
rs71354995	0.89[EUR][1000 genomes]
rs7252835	0.86[AFR][1000 genomes]
rs7253960	0.86[AMR][1000 genomes]
rs7260137	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73043010	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv960928	chr19:38790012-38822380	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38804800-38807000	Active TSS	K562	blood
2	chr19:38805400-38806800	Active TSS	HSMM	muscle
3	chr19:38805400-38807200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr19:38805400-38807400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr19:38805400-38807400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:38805400-38807400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr19:38805600-38807000	Active TSS	HSMMtube	muscle
8	chr19:38805600-38807200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr19:38805600-38807400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:38805600-38807400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:38805800-38806800	Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr19:38805800-38807000	Active TSS	Colon Smooth Muscle	Colon
13	chr19:38805800-38807000	Active TSS	Fetal Lung	lung
14	chr19:38805800-38807200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:38805800-38807200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:38805800-38807200	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr19:38805800-38807200	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr19:38805800-38807200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:38805800-38807200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:38805800-38807200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr19:38805800-38807200	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr19:38805800-38807200	Active TSS	Psoas Muscle	Psoas
23	chr19:38805800-38807200	Active TSS	Right Ventricle	heart
24	chr19:38805800-38807200	Active TSS	NHLF	lung
25	chr19:38805800-38807400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr19:38805800-38807400	Active TSS	H1 Cell Line	embryonic stem cell
27	chr19:38805800-38807400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr19:38805800-38807400	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr19:38805800-38807400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr19:38805800-38807400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:38805800-38807400	Active TSS	Brain Angular Gyrus	brain
32	chr19:38805800-38807400	Active TSS	Brain Germinal Matrix	brain
33	chr19:38806000-38807000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:38806000-38807000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:38806000-38807000	Active TSS	NH-A	brain
36	chr19:38806000-38807000	Active TSS	NHDF-Ad	bronchial
37	chr19:38806000-38807200	Active TSS	Fetal Kidney	kidney
38	chr19:38806000-38807400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:38806000-38807400	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr19:38806200-38806800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:38806200-38806800	Active TSS	Fetal Brain Male	brain
42	chr19:38806200-38806800	Active TSS	Stomach Mucosa	stomach
43	chr19:38806200-38807000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:38806200-38807000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr19:38806200-38807000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:38806200-38807000	Active TSS	Esophagus	oesophagus
47	chr19:38806200-38807000	Active TSS	Fetal Brain Female	brain
48	chr19:38806200-38807000	Active TSS	Gastric	stomach
49	chr19:38806200-38807000	Active TSS	Lung	lung
50	chr19:38806200-38807000	Active TSS	Sigmoid Colon	Sigmoid Colon

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