Variant report

Variant	rs7259266
Chromosome Location	chr19:51843808-51843809
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	YY1	chr19:51843164-51843934	K562	blood:	n/a	chr19:51843900-51843914 chr19:51843729-51843743 chr19:51843450-51843459 chr19:51843727-51843738 chr19:51843919-51843930
2	E2F6	chr19:51843035-51843965	K562	blood:	n/a	chr19:51843499-51843509
3	MAZ	chr19:51841761-51844263	K562	blood:	n/a	chr19:51843203-51843213 chr19:51842127-51842137 chr19:51841906-51841913 chr19:51843926-51843936
4	ZBTB7A	chr19:51843219-51844078	K562	blood:	n/a	n/a
5	TCF3	chr19:51843194-51843953	GM12878	blood:	n/a	chr19:51843782-51843797
6	YY1	chr19:51843178-51843861	HepG2	liver:	n/a	chr19:51843729-51843743 chr19:51843450-51843459 chr19:51843727-51843738
7	IRF1	chr19:51842834-51843832	K562	blood:	n/a	chr19:51843200-51843214 chr19:51843047-51843061 chr19:51843217-51843231
8	ZBTB7A	chr19:51843238-51844093	K562	blood:	n/a	n/a
9	MAZ	chr19:51842923-51843948	Hela-S3	cervix:	n/a	chr19:51843203-51843213 chr19:51843926-51843936
10	SIN3AK20	chr19:51843214-51843942	K562	blood:	n/a	n/a
11	E2F6	chr19:51843168-51843987	H1-hESC	embryonic stem cell:	n/a	chr19:51843499-51843509
12	POLR2A	chr19:51843049-51843938	H1-neurons	neurons:	n/a	n/a
13	ETS1	chr19:51843163-51843881	K562	blood:	n/a	chr19:51843448-51843459 chr19:51843649-51843662
14	JUND	chr19:51843077-51843997	A549	lung:	n/a	chr19:51843435-51843444
15	YY1	chr19:51843192-51843920	K562	blood:	n/a	chr19:51843900-51843914 chr19:51843729-51843743 chr19:51843450-51843459 chr19:51843727-51843738
16	POLR2A	chr19:51843202-51843862	GM12878	blood:	n/a	n/a
17	MAX	chr19:51843258-51843809	HepG2	liver:	n/a	n/a
18	HEY1	chr19:51843147-51843916	K562	blood:	n/a	chr19:51843763-51843778 chr19:51843448-51843463
19	POLR2A	chr19:51842868-51844090	A549	lung:	n/a	n/a
20	ESRRA	chr19:51843165-51844118	GM12878	blood:	n/a	chr19:51843582-51843596 chr19:51843581-51843597 chr19:51843463-51843473 chr19:51843582-51843601 chr19:51843461-51843473
21	POLR2A	chr19:51843049-51843888	A549	lung:	n/a	n/a
22	USF1	chr19:51843234-51843859	K562	blood:	n/a	chr19:51843421-51843432
23	POLR2A	chr19:51842283-51844002	HepG2	liver:	n/a	n/a
24	POLR2A	chr19:51843178-51843846	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr19:51842736-51843999	HepG2	liver:	n/a	chr19:51843203-51843213 chr19:51843926-51843936
26	POLR2A	chr19:51841814-51851408	HepG2	liver:	n/a	n/a
27	RCOR1	chr19:51841942-51843877	Hela-S3	cervix:	n/a	n/a
28	MAX	chr19:51842937-51843898	K562	blood:	n/a	chr19:51843203-51843213
29	POLR2A	chr19:51843141-51843948	A549	lung:	n/a	n/a
30	POLR2A	chr19:51842976-51843895	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr19:51842859-51843969	K562	blood:	n/a	n/a
32	RUNX3	chr19:51843267-51843862	GM12878	blood:	n/a	n/a
33	POLR2A	chr19:51842878-51844694	A549	lung:	n/a	n/a
34	SIN3A	chr19:51841890-51843995	H1-hESC	embryonic stem cell:	n/a	n/a
35	BHLHE40	chr19:51842591-51843923	K562	blood:	n/a	n/a
36	POLR2A	chr19:51842867-51843901	Hela-S3	cervix:	n/a	n/a
37	E2F6	chr19:51843158-51843891	K562	blood:	n/a	chr19:51843499-51843509
38	MAX	chr19:51843235-51843835	K562	blood:	n/a	n/a
39	CREB1	chr19:51842806-51843960	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr19:51842934-51844060	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr19:51843129-51843843	Hela-S3	cervix:	n/a	n/a
42	FOXP2	chr19:51843176-51843853	PFSK-1	brain:	n/a	n/a
43	GABPA	chr19:51843070-51843920	K562	blood:	n/a	chr19:51843496-51843510
44	MAX	chr19:51843064-51844001	A549	lung:	n/a	chr19:51843203-51843213 chr19:51843926-51843936
45	MAZ	chr19:51841807-51844122	IMR90	lung:	n/a	chr19:51843203-51843213 chr19:51842127-51842137 chr19:51841906-51841913 chr19:51843926-51843936
46	TBP	chr19:51841751-51843937	K562	blood:	n/a	n/a
47	HCFC1	chr19:51841877-51844023	Hela-S3	cervix:	n/a	n/a
48	E2F6	chr19:51843134-51843945	K562	blood:	n/a	chr19:51843499-51843509
49	MXI1	chr19:51841729-51843936	IMR90	lung:	n/a	n/a
50	CTCF	chr19:51843218-51843838	SK-N-SH	brain:	n/a	chr19:51843444-51843457

No.	Distal block	Cell Line	Cell type
1	chr19:51841257..51845442-chr19:51896216..51899567,12	K562	blood:
2	chr19:51843178..51845619-chr19:52074404..52075904,2	K562	blood:
3	chr14:23119976..23120528-chr19:51843337..51843862,2	Hela-S3	cervix:
4	chr19:51841314..51846809-chr19:51868154..51872523,19	K562	blood:
5	chr19:51841175..51847735-chr19:51867771..51872496,21	MCF-7	breast:
6	chr19:51841483..51843929-chr19:51917621..51920239,2	K562	blood:
7	chr19:51840838..51845657-chr19:51892354..51900411,18	K562	blood:
8	chr19:51841590..51847683-chr19:51867906..51872035,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267905	TF binding region
ENSG00000267984	TF binding region
VSIG10L	TF binding region
ENSG00000269403	Chromatin interaction
ENSG00000160318	Chromatin interaction
ENSG00000268889	Chromatin interaction
ENSG00000262874	Chromatin interaction
ENSG00000255441	Chromatin interaction
ENSG00000105497	Chromatin interaction
ENSG00000105379	Chromatin interaction
ENSG00000268520	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1035454	0.95[EUR][1000 genomes]
rs10414211	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10419062	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10424579	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11084068	0.99[ASN][1000 genomes]
rs11878664	0.99[ASN][1000 genomes]
rs12463376	0.99[ASN][1000 genomes]
rs2011612	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28668475	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34380065	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6509528	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8105710	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv1813225	chr19:51821612-51888813	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	esv3380303	chr19:51842165-51844913	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51841800-51844000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr19:51841800-51844000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:51841800-51844000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr19:51841800-51844200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:51842000-51844000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:51842000-51844000	Active TSS	Rectal Smooth Muscle	rectum
7	chr19:51842000-51844000	Active TSS	Right Atrium	heart
8	chr19:51842000-51844000	Active TSS	A549	lung
9	chr19:51842000-51844000	Active TSS	K562	blood
10	chr19:51842000-51844200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:51842000-51845200	Active TSS	Esophagus	oesophagus
12	chr19:51842200-51844000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:51842200-51844000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:51842200-51844000	Active TSS	Aorta	Aorta
15	chr19:51842600-51844600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr19:51842800-51847200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr19:51843000-51844000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:51843000-51844000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:51843000-51844000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr19:51843000-51844000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:51843000-51844000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:51843000-51844000	Active TSS	Brain Angular Gyrus	brain
23	chr19:51843000-51844000	Active TSS	Brain Hippocampus Middle	brain
24	chr19:51843000-51844000	Active TSS	Brain Substantia Nigra	brain
25	chr19:51843000-51844000	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr19:51843000-51844000	Bivalent/Poised TSS	Fetal Brain Female	brain
27	chr19:51843000-51844000	Active TSS	Left Ventricle	heart
28	chr19:51843000-51844000	Active TSS	HSMM	muscle
29	chr19:51843000-51844000	Active TSS	NH-A	brain
30	chr19:51843000-51844000	Active TSS	Osteobl	bone
31	chr19:51843000-51844200	Active TSS	Colon Smooth Muscle	Colon
32	chr19:51843000-51844200	Active TSS	HSMMtube	muscle
33	chr19:51843000-51844200	Active TSS	NHDF-Ad	bronchial
34	chr19:51843000-51844800	Active TSS	HepG2	liver
35	chr19:51843000-51847400	Weak transcription	Dnd41	blood
36	chr19:51843000-51852200	Weak transcription	Fetal Heart	heart
37	chr19:51843000-51857600	Weak transcription	Fetal Kidney	kidney
38	chr19:51843200-51844000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr19:51843200-51844200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:51843200-51857400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr19:51843400-51844000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:51843400-51844000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:51843400-51844000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:51843400-51844000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
45	chr19:51843400-51844000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr19:51843400-51844000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr19:51843400-51844000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr19:51843400-51844000	Flanking Active TSS	GM12878-XiMat	blood
49	chr19:51843400-51844000	Flanking Active TSS	HMEC	breast
50	chr19:51843400-51844200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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