Variant report

Variant	rs73922821
Chromosome Location	chr19:19303273-19303274
allele	A/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	EGR1	chr19:19302846-19303816	K562	blood:	n/a	chr19:19303698-19303707 chr19:19303687-19303700 chr19:19303685-19303695 chr19:19303580-19303589 chr19:19303686-19303696
2	MAX	chr19:19302768-19303858	SK-N-SH	brain:	n/a	n/a
3	GABPA	chr19:19302338-19303853	MCF-7	breast:	n/a	chr19:19303697-19303706 chr19:19303502-19303516 chr19:19303686-19303695 chr19:19303697-19303711 chr19:19303502-19303513 chr19:19303694-19303708 chr19:19303496-19303510 chr19:19303579-19303590 chr19:19303697-19303708 chr19:19303579-19303593
4	POLR2A	chr19:19303192-19303430	A549	lung:	n/a	n/a
5	TBP	chr19:19302666-19304041	K562	blood:	n/a	n/a
6	NRF1	chr19:19303222-19303892	H1-hESC	embryonic stem cell:	n/a	chr19:19303697-19303706 chr19:19303502-19303516 chr19:19303686-19303695 chr19:19303697-19303711 chr19:19303502-19303513 chr19:19303694-19303708 chr19:19303496-19303510 chr19:19303501-19303512 chr19:19303579-19303590 chr19:19303697-19303708 chr19:19303579-19303593
7	POLR2A	chr19:19302595-19304018	HL-60	blood:	n/a	n/a
8	SRF	chr19:19302798-19303369	GM12878	blood:	n/a	n/a
9	NR2F2	chr19:19302643-19303736	K562	blood:	n/a	n/a
10	PAX5	chr19:19303194-19303680	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:19302696-19304091	Raji	blood:	n/a	n/a
12	POLR2A	chr19:19302745-19303846	HepG2	liver:	n/a	n/a
13	TAF1	chr19:19302685-19303695	MCF-7	breast:	n/a	n/a
14	ELK4	chr19:19302846-19303296	Hela-S3	cervix:	n/a	n/a
15	SP1	chr19:19303190-19303712	HepG2	liver:	n/a	chr19:19303686-19303695 chr19:19303537-19303547 chr19:19303537-19303546 chr19:19303427-19303437 chr19:19303536-19303548 chr19:19303685-19303697 chr19:19303685-19303697 chr19:19303426-19303438 chr19:19303537-19303551 chr19:19303426-19303438 chr19:19303536-19303548 chr19:19303428-19303437 chr19:19303686-19303696 chr19:19303682-19303696 chr19:19303427-19303436 chr19:19303617-19303627 chr19:19303296-19303307 chr19:19303538-19303547 chr19:19303687-19303696
16	SP1	chr19:19302646-19303857	A549	lung:	n/a	chr19:19303686-19303695 chr19:19303537-19303547 chr19:19303537-19303546 chr19:19303427-19303437 chr19:19303536-19303548 chr19:19303685-19303697 chr19:19303685-19303697 chr19:19303426-19303438 chr19:19303537-19303551 chr19:19303426-19303438 chr19:19303536-19303548 chr19:19303428-19303437 chr19:19303686-19303696 chr19:19303682-19303696 chr19:19303427-19303436 chr19:19303617-19303627 chr19:19303296-19303307 chr19:19303538-19303547 chr19:19303687-19303696
17	POLR2A	chr19:19302499-19304322	SK-N-MC	brain:	n/a	n/a
18	RELA	chr19:19302739-19303928	GM12892	blood:	n/a	n/a
19	POLR2A	chr19:19302657-19303551	K562	blood:	n/a	n/a
20	MAX	chr19:19302694-19303486	SK-N-SH	brain:	n/a	n/a
21	SP1	chr19:19302714-19303805	A549	lung:	n/a	chr19:19303686-19303695 chr19:19303537-19303547 chr19:19303537-19303546 chr19:19303427-19303437 chr19:19303536-19303548 chr19:19303685-19303697 chr19:19303685-19303697 chr19:19303426-19303438 chr19:19303537-19303551 chr19:19303426-19303438 chr19:19303536-19303548 chr19:19303428-19303437 chr19:19303686-19303696 chr19:19303682-19303696 chr19:19303427-19303436 chr19:19303617-19303627 chr19:19303296-19303307 chr19:19303538-19303547 chr19:19303687-19303696
22	GABPA	chr19:19302635-19303453	GM12878	blood:	n/a	n/a
23	POLR2A	chr19:19302781-19303818	HepG2	liver:	n/a	n/a
24	POLR2A	chr19:19302705-19303518	H1-hESC	embryonic stem cell:	n/a	n/a
25	GTF2F1	chr19:19302740-19303568	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr19:19302633-19303577	GM12892	blood:	n/a	n/a
27	MAX	chr19:19302593-19303910	A549	lung:	n/a	n/a
28	YY1	chr19:19302733-19303424	GM12878	blood:	n/a	n/a
29	RCOR1	chr19:19302796-19303523	GM12878	blood:	n/a	n/a
30	ATF2	chr19:19302740-19303484	GM12878	blood:	n/a	n/a
31	GABPA	chr19:19302672-19303494	Hela-S3	cervix:	n/a	n/a
32	GABPA	chr19:19302542-19303489	HL-60	blood:	n/a	n/a
33	YY1	chr19:19302734-19303597	HepG2	liver:	n/a	n/a
34	POLR2A	chr19:19302768-19303537	K562	blood:	n/a	n/a
35	ELK1	chr19:19302809-19303904	Hela-S3	cervix:	n/a	n/a
36	MAX	chr19:19302711-19303591	A549	lung:	n/a	n/a
37	POLR2A	chr19:19302611-19304027	GM12892	blood:	n/a	n/a
38	ZNF384	chr19:19302182-19304452	K562	blood:	n/a	n/a
39	POLR2A	chr19:19302627-19303770	PFSK-1	brain:	n/a	n/a
40	EP300	chr19:19302840-19303407	HepG2	liver:	n/a	n/a
41	CREB1	chr19:19302742-19303558	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAZ	chr19:19302823-19304165	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr19:19303251-19303401	A549	lung:	n/a	n/a
44	TBL1XR1	chr19:19302798-19303975	GM12878	blood:	n/a	n/a
45	TAF1	chr19:19302442-19303659	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr19:19302727-19303473	HepG2	liver:	n/a	n/a
47	MAX	chr19:19302776-19304229	NB4	blood:	n/a	n/a
48	CEBPB	chr19:19302730-19303605	Hela-S3	cervix:	n/a	n/a
49	CREB1	chr19:19302773-19303334	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr19:19302728-19303475	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:19303269-19303319	GM19239	blood:	n/a
2	chr19:19303269-19303319	NT2-D1	testis:	n/a
3	chr19:19303269-19303319	HPAEpiC	pulmonary alveolar:	n/a
4	chr19:19303269-19303319	AG10803	skin:	n/a
5	chr19:19303269-19303319	CMK	blood:	n/a
6	chr19:19303269-19303319	PFSK-1	brain:	n/a
7	chr19:19303269-19303319	ovcar-3	ovarian:	n/a
8	chr19:19303269-19303319	SK-N-MC	brain:	n/a
9	chr19:19303269-19303319	H1-hESC	embryonic stem cell:	embryo
10	chr19:19303269-19303319	NH-A	brain:	n/a
11	chr19:19303269-19303319	GM12891	blood:	n/a
12	chr19:19303269-19303319	SK-N-SH_RA	brain:	n/a
13	chr19:19303269-19303319	HUVEC	blood vessel:	n/a
14	chr19:19303269-19303319	PrEC	prostate:	n/a
15	chr19:19303269-19303319	AoSMC	blood vessel:	n/a
16	chr19:19303269-19303319	AG04450	lung:	fetal
17	chr19:19303269-19303319	HCM	heart:	n/a
18	chr19:19303269-19303319	MCF-7	breast:	n/a
19	chr19:19303269-19303319	HRE	kidney:	n/a
20	chr19:19303269-19303319	SK-N-SH	brain:	n/a
21	chr19:19303269-19303319	HCF	heart:	n/a
22	chr19:19303269-19303319	A549	lung:	n/a
23	chr19:19303269-19303319	RPTEC	kidney:	n/a
24	chr19:19303269-19303319	HEEpiC	esophagus:	n/a
25	chr19:19303269-19303319	AG04449	skin:	fetal
26	chr19:19303269-19303319	SAEC	small airway:	n/a
27	chr19:19303269-19303319	Caco-2	colon:	n/a
28	chr19:19303269-19303319	NHDF-neo	bronchial:	n/a
29	chr19:19303269-19303319	U87	brain:	n/a
30	chr19:19303269-19303319	Hela-S3	cervix:	n/a
31	chr19:19303269-19303319	NHBE	bronchial:	n/a
32	chr19:19303269-19303319	IMR90	lung:	fetal
33	chr19:19303269-19303319	HepG2	liver:	n/a
34	chr19:19303269-19303319	HCPEpiC	choroid plexus:	n/a
35	chr19:19303269-19303319	AG09319	gingival:	n/a
36	chr19:19303269-19303319	HEK293	kidney:	embryo
37	chr19:19303269-19303319	Jurkat	blood:	n/a
38	chr19:19303269-19303319	SKMC	muscle:	n/a
39	chr19:19303269-19303319	BJ	skin:	n/a
40	chr19:19303269-19303319	GM12878	blood:	n/a
41	chr19:19303269-19303319	MCF10A-Er-Src	breast:	n/a
42	chr19:19303269-19303319	HRCEpiC	kidney:	n/a
43	chr19:19303269-19303319	GM06990	blood:	n/a
44	chr19:19303269-19303319	GM12892	blood:	n/a
45	chr19:19303269-19303319	HCT-116	colon:	n/a
46	chr19:19303269-19303319	PANC-1	pancreas:	n/a
47	chr19:19303269-19303319	K562	blood:	n/a
48	chr19:19303269-19303319	T-47D	breast:	n/a
49	chr19:19303269-19303319	ProgFib	skin:	n/a
50	chr19:19303269-19303319	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:19279506..19282646-chr19:19302669..19304636,3	MCF-7	breast:
2	chr19:19143660..19145632-chr19:19301840..19304072,2	MCF-7	breast:
3	chr19:19300955..19305521-chr19:19311679..19315747,10	MCF-7	breast:
4	chr19:19301203..19304689-chr19:19429627..19432561,5	MCF-7	breast:
5	chr19:19295305..19299616-chr19:19301493..19303729,7	K562	blood:
6	chr19:19302763..19305800-chr19:19307599..19310833,3	MCF-7	breast:
7	chr19:19291248..19293065-chr19:19301550..19303514,2	K562	blood:
8	chr19:19301698..19303429-chr19:19429828..19432129,2	MCF-7	breast:
9	chr19:19294693..19300778-chr19:19301483..19306941,9	K562	blood:
10	chr19:19286456..19293705-chr19:19298673..19304955,13	K562	blood:
11	chr19:19301845..19303815-chr19:19429491..19431433,2	K562	blood:
12	chr19:19142422..19145596-chr19:19300959..19304249,3	K562	blood:
13	chr19:19300744..19305499-chr19:19311426..19319217,10	K562	blood:
14	chr19:19302936..19305152-chr19:19382979..19386540,3	MCF-7	breast:
15	chr19:19301631..19304213-chr19:19625502..19628076,2	MCF-7	breast:
16	chr19:19301788..19305469-chr19:19308325..19310505,4	K562	blood:
17	chr19:19303122..19305309-chr19:19496096..19498095,2	K562	blood:
18	chr19:19299448..19305567-chr19:19306959..19319217,21	K562	blood:
19	chr19:19302224..19305333-chr19:19312708..19315616,6	MCF-7	breast:
20	chr19:19291324..19295055-chr19:19301522..19304242,3	MCF-7	breast:
21	chr19:18682067..18684109-chr19:19302288..19304450,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM161A-1	chr19:19303008-19303400	NONHSAT063026

Variant related genes	Relation type
RFXANK	TF binding region
MEF2B	TF binding region
MEF2BNB	TF binding region
MEF2BNB-MEF2B	TF binding region
MEF2B	CpG island
MEF2BNB	CpG island
RFXANK	CpG island
MEF2BNB-MEF2B	CpG island
ENSG00000186010	Chromatin interaction
ENSG00000167491	Chromatin interaction
ENSG00000105705	Chromatin interaction
ENSG00000178093	Chromatin interaction
ENSG00000064489	Chromatin interaction
ENSG00000105676	Chromatin interaction
ENSG00000267629	Chromatin interaction
ENSG00000221983	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000064607	Chromatin interaction
ENSG00000213996	Chromatin interaction
ENSG00000184162	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000258674	Chromatin interaction
ENSG00000213999	Chromatin interaction
ENSG00000129933	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56738402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57362874	1.00[AFR][1000 genomes]
rs59210450	0.85[AMR][1000 genomes]
rs60666927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60973674	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7256074	0.85[AMR][1000 genomes]
rs73922820	0.85[AMR][1000 genomes]
rs73922822	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922823	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922826	0.85[AMR][1000 genomes]
rs73922828	0.85[AMR][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	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv933613	chr19:19291456-19312244	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv961283	chr19:19293486-19312277	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr19:19301600-19304400	Active TSS	K562	blood
2	chr19:19301600-19304600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr19:19301800-19304200	Active TSS	Fetal Kidney	kidney
4	chr19:19301800-19304400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr19:19301800-19304400	Active TSS	HMEC	breast
6	chr19:19301800-19304600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr19:19301800-19304600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr19:19301800-19304600	Active TSS	Psoas Muscle	Psoas
9	chr19:19301800-19304600	Active TSS	GM12878-XiMat	blood
10	chr19:19301800-19305000	Active TSS	A549	lung
11	chr19:19302000-19303400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr19:19302000-19304000	Active TSS	NHEK	skin
13	chr19:19302000-19304200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr19:19302000-19304200	Active TSS	Fetal Intestine Large	intestine
15	chr19:19302000-19304200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr19:19302000-19304200	Active TSS	Gastric	stomach
17	chr19:19302000-19304200	Active TSS	Ovary	ovary
18	chr19:19302000-19304400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:19302000-19304400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr19:19302000-19304400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:19302000-19304400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:19302000-19304400	Active TSS	Right Ventricle	heart
23	chr19:19302000-19304400	Active TSS	Hela-S3	cervix
24	chr19:19302000-19304600	Active TSS	H1 Cell Line	embryonic stem cell
25	chr19:19302000-19304600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:19302000-19304600	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr19:19302000-19304600	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr19:19302000-19304600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:19302000-19304600	Active TSS	Colon Smooth Muscle	Colon
30	chr19:19302000-19304600	Active TSS	HSMMtube	muscle
31	chr19:19302000-19304600	Active TSS	NH-A	brain
32	chr19:19302000-19304600	Active TSS	NHLF	lung
33	chr19:19302000-19304800	Active TSS	HSMM	muscle
34	chr19:19302200-19304000	Active TSS	Pancreas	Pancrea
35	chr19:19302200-19304000	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr19:19302200-19304200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr19:19302200-19304200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr19:19302200-19304200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:19302200-19304200	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr19:19302200-19304200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:19302200-19304200	Active TSS	Aorta	Aorta
42	chr19:19302200-19304200	Active TSS	Brain Angular Gyrus	brain
43	chr19:19302200-19304200	Active TSS	Esophagus	oesophagus
44	chr19:19302200-19304200	Active TSS	Lung	lung
45	chr19:19302200-19304200	Active TSS	Placenta Amnion	Placenta Amnion
46	chr19:19302200-19304200	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr19:19302200-19304200	Active TSS	Small Intestine	intestine
48	chr19:19302200-19304200	Active TSS	Stomach Mucosa	stomach
49	chr19:19302200-19304200	Active TSS	Spleen	Spleen
50	chr19:19302200-19304400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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