Variant report

Variant	rs61733856
Chromosome Location	chr19:21265110-21265111
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	YY1	chr19:21264825-21265483	GM12891	blood:	n/a	chr19:21265300-21265322 chr19:21265313-21265321 chr19:21265320-21265334 chr19:21265312-21265322 chr19:21265318-21265329
2	IRF1	chr19:21264724-21265368	K562	blood:	n/a	n/a
3	POLR2A	chr19:21264786-21265447	GM12878	blood:	n/a	n/a
4	PBX3	chr19:21264676-21265265	SK-N-SH	brain:	n/a	chr19:21264881-21264890
5	TAF7	chr19:21264825-21265277	H1-hESC	embryonic stem cell:	n/a	n/a
6	SP2	chr19:21264666-21265241	HepG2	liver:	n/a	chr19:21264894-21264909 chr19:21265190-21265199
7	SP1	chr19:21264665-21265141	GM12878	blood:	n/a	n/a
8	TCF3	chr19:21264906-21265223	GM12878	blood:	n/a	n/a
9	TAF1	chr19:21264651-21265245	PFSK-1	brain:	n/a	n/a
10	HDAC2	chr19:21264824-21265248	HepG2	liver:	n/a	n/a
11	POLR2A	chr19:21264757-21265399	NB4	blood:	n/a	n/a
12	POLR2A	chr19:21264677-21265587	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr19:21264898-21265174	SK-N-SH	brain:	n/a	n/a
14	SIN3AK20	chr19:21264735-21265273	H1-hESC	embryonic stem cell:	n/a	n/a
15	SMC3	chr19:21264698-21265384	Hela-S3	cervix:	n/a	chr19:21265307-21265321
16	IRF1	chr19:21264737-21265214	K562	blood:	n/a	n/a
17	POLR2A	chr19:21264809-21265389	GM12891	blood:	n/a	n/a
18	TAF1	chr19:21264810-21265446	H1-neurons	neurons:	n/a	n/a
19	EP300	chr19:21264779-21265162	K562	blood:	n/a	n/a
20	TAF1	chr19:21264837-21265288	GM12892	blood:	n/a	n/a
21	TBP	chr19:21264795-21265240	HepG2	liver:	n/a	n/a
22	NFYB	chr19:21264686-21265227	Hela-S3	cervix:	n/a	chr19:21264914-21264929 chr19:21264917-21264930 chr19:21264919-21264929 chr19:21264917-21264932 chr19:21264943-21264958 chr19:21264917-21264932 chr19:21264917-21264931
23	POLR2A	chr19:21264663-21265461	SK-N-SH	brain:	n/a	n/a
24	YY1	chr19:21264914-21265464	K562	blood:	n/a	chr19:21265300-21265322 chr19:21265313-21265321 chr19:21265320-21265334 chr19:21265312-21265322 chr19:21265318-21265329
25	NR2F2	chr19:21264690-21265254	K562	blood:	n/a	n/a
26	TBL1XR1	chr19:21264795-21265226	K562	blood:	n/a	n/a
27	MXI1	chr19:21264732-21265376	HepG2	liver:	n/a	n/a
28	POLR2A	chr19:21264709-21265360	HL-60	blood:	n/a	n/a
29	YY1	chr19:21264709-21265467	HepG2	liver:	n/a	chr19:21265300-21265322 chr19:21265313-21265321 chr19:21265320-21265334 chr19:21265312-21265322 chr19:21265318-21265329
30	ZNF384	chr19:21264833-21265197	K562	blood:	n/a	n/a
31	SP1	chr19:21264710-21265348	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr19:21264707-21265413	GM12878	blood:	n/a	n/a
33	GTF2B	chr19:21264856-21265159	K562	blood:	n/a	n/a
34	POLR2A	chr19:21264730-21265291	GM12878	blood:	n/a	n/a
35	TAF1	chr19:21264862-21265161	GM12892	blood:	n/a	n/a
36	POLR2A	chr19:21264745-21265435	MCF-7	breast:	n/a	n/a
37	MAX	chr19:21264741-21265643	Hela-S3	cervix:	n/a	n/a
38	ELF1	chr19:21264858-21265217	HepG2	liver:	n/a	n/a
39	MAZ	chr19:21264734-21265284	Hela-S3	cervix:	n/a	n/a
40	HEY1	chr19:21264691-21265342	HepG2	liver:	n/a	n/a
41	SIN3A	chr19:21264665-21265474	H1-hESC	embryonic stem cell:	n/a	chr19:21265022-21265031
42	RAD21	chr19:21264755-21265116	Hela-S3	cervix:	n/a	chr19:21264959-21264973
43	HEY1	chr19:21264687-21265358	HepG2	liver:	n/a	n/a
44	TAF1	chr19:21264876-21265160	GM12878	blood:	n/a	n/a
45	ZKSCAN1	chr19:21264840-21265351	Hela-S3	cervix:	n/a	n/a
46	TAF1	chr19:21264743-21265486	HepG2	liver:	n/a	n/a
47	RCOR1	chr19:21264713-21265281	K562	blood:	n/a	n/a
48	POLR2A	chr19:21264728-21265681	Hela-S3	cervix:	n/a	n/a
49	YY1	chr19:21264763-21265535	SK-N-SH_RA	brain:	n/a	chr19:21265300-21265322 chr19:21265313-21265321 chr19:21265320-21265334 chr19:21265312-21265322 chr19:21265318-21265329
50	MXI1	chr19:21264773-21265140	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:21264715..21265215-chrX:53710755..53711257,2	NB4	blood:
2	chr19:21238270..21239771-chr19:21264302..21266943,2	K562	blood:
3	chr19:21246343..21248444-chr19:21263959..21266875,2	K562	blood:
4	chr17:57969004..57971186-chr19:21264179..21266125,2	MCF-7	breast:
5	chr19:21264733..21265247-chr19:21541544..21542206,2	NB4	blood:
6	chr19:21203269..21205162-chr19:21263863..21266449,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF714-1	chr19:21264971-21265154	NONHSAT063683

Variant related genes	Relation type
ZNF714	TF binding region
ENSG00000086758	Chromatin interaction
ENSG00000108443	Chromatin interaction
ENSG00000265650	Chromatin interaction
ENSG00000172687	Chromatin interaction
ENSG00000268598	Chromatin interaction
ENSG00000108423	Chromatin interaction
ENSG00000118620	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10413569	0.89[EUR][1000 genomes]
rs10413841	0.86[EUR][1000 genomes]
rs10416447	0.89[EUR][1000 genomes]
rs10425841	0.98[EUR][1000 genomes]
rs11085427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11085429	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12052091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12150909	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12151107	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17618418	0.87[EUR][1000 genomes]
rs2358793	0.95[EUR][1000 genomes]
rs3919641	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3937493	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4580323	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66693308	1.00[EUR][1000 genomes]
rs73012909	0.87[EUR][1000 genomes]
rs73012916	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73012919	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73012925	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73012931	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73012943	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73014828	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73014838	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73014844	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73014852	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014854	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014855	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014863	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014868	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73018961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73018974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73018975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73018978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73019002	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020625	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020644	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020654	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020661	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022623	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022624	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022630	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022634	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73022639	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73022640	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73022648	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73022667	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024637	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024645	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024647	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024648	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024655	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024657	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024662	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024665	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73024668	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024670	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024671	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024674	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024675	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024685	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024688	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73026655	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73026661	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73026662	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73026693	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS 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	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv911412	chr19:21233388-21297358	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1065384	chr19:21249321-21350698	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv911413	chr19:21263518-21347598	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr19:21247400-21289600	Weak transcription	Aorta	Aorta
2	chr19:21264200-21265400	Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr19:21264600-21265800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr19:21264600-21265800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:21264600-21265800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:21264600-21266000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:21264600-21266000	Active TSS	Fetal Brain Female	brain
8	chr19:21264600-21266000	Active TSS	Fetal Intestine Small	intestine
9	chr19:21264600-21266200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr19:21264600-21266200	Active TSS	GM12878-XiMat	blood
11	chr19:21264800-21265400	Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr19:21264800-21265600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:21264800-21265600	Active TSS	Primary T cells from cord blood	blood
14	chr19:21264800-21265600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:21264800-21265600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr19:21264800-21265600	Active TSS	Brain Angular Gyrus	brain
17	chr19:21264800-21265600	Active TSS	Brain Hippocampus Middle	brain
18	chr19:21264800-21265600	Active TSS	Colon Smooth Muscle	Colon
19	chr19:21264800-21265600	ZNF genes & repeats	Esophagus	oesophagus
20	chr19:21264800-21265600	Active TSS	Pancreas	Pancrea
21	chr19:21264800-21265600	Active TSS	Right Ventricle	heart
22	chr19:21264800-21265600	Active TSS	HUVEC	blood vessel
23	chr19:21264800-21265800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:21264800-21265800	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr19:21264800-21265800	Active TSS	Primary B cells from peripheral blood	blood
26	chr19:21264800-21265800	Active TSS	Primary T cells fromperipheralblood	blood
27	chr19:21264800-21265800	Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr19:21264800-21265800	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr19:21264800-21265800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:21264800-21265800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:21264800-21265800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:21264800-21265800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:21264800-21265800	Active TSS	Muscle Satellite Cultured Cells	--
34	chr19:21264800-21265800	Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr19:21264800-21265800	Active TSS	Adipose Nuclei	Adipose
36	chr19:21264800-21265800	ZNF genes & repeats	Liver	Liver
37	chr19:21264800-21265800	Active TSS	Brain Cingulate Gyrus	brain
38	chr19:21264800-21265800	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr19:21264800-21265800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:21264800-21265800	Active TSS	Brain Substantia Nigra	brain
41	chr19:21264800-21265800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr19:21264800-21265800	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr19:21264800-21265800	Active TSS	Fetal Muscle Trunk	muscle
44	chr19:21264800-21265800	Active TSS	Fetal Muscle Leg	muscle
45	chr19:21264800-21265800	Active TSS	Placenta	Placenta
46	chr19:21264800-21265800	Active TSS	Fetal Stomach	stomach
47	chr19:21264800-21265800	Active TSS	Fetal Thymus	thymus
48	chr19:21264800-21265800	Active TSS	Placenta Amnion	Placenta Amnion
49	chr19:21264800-21265800	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr19:21264800-21265800	Active TSS	Skeletal Muscle Female	skeletal muscle

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