Variant report

Variant	rs73937256
Chromosome Location	chr19:56904931-56904932
allele	C/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	POLR2A	chr19:56904716-56904983	K562	blood:	n/a	n/a
2	CTCF	chr19:56904806-56905037	Pancreas_OC	pancreas:	n/a	chr19:56904906-56904919 chr19:56904904-56904920 chr19:56904905-56904926 chr19:56904903-56904921 chr19:56904846-56904859
3	SIX5	chr19:56904390-56905113	H1-hESC	embryonic stem cell:	n/a	chr19:56904669-56904678 chr19:56904666-56904680 chr19:56904667-56904676
4	TCF7L2	chr19:56904702-56905221	PANC-1	pancreas:	n/a	n/a
5	CTCF	chr19:56904499-56905003	GM10248	blood:	n/a	chr19:56904906-56904919 chr19:56904904-56904920 chr19:56904905-56904926 chr19:56904903-56904921 chr19:56904846-56904859
6	PAX5	chr19:56904574-56905371	GM12878	blood:	n/a	chr19:56904840-56904849 chr19:56904981-56905008
7	POLR2A	chr19:56904735-56905015	K562	blood:	n/a	n/a
8	CTCF	chr19:56904810-56905014	GM13976	blood:	n/a	chr19:56904906-56904919 chr19:56904904-56904920 chr19:56904905-56904926 chr19:56904903-56904921 chr19:56904846-56904859
9	CTCF	chr19:56904840-56904990	GM12869	blood:	n/a	chr19:56904906-56904919 chr19:56904904-56904920 chr19:56904905-56904926 chr19:56904903-56904921 chr19:56904846-56904859
10	PML	chr19:56904603-56905024	GM12878	blood:	n/a	n/a
11	MAX	chr19:56904497-56905220	K562	blood:	n/a	n/a
12	MAX	chr19:56904464-56905235	ECC-1	luminal epithelium:	n/a	n/a
13	YY1	chr19:56904834-56904998	K562	blood:	n/a	chr19:56904842-56904856 chr19:56904836-56904847
14	YY1	chr19:56904442-56905238	HepG2	liver:	n/a	chr19:56904652-56904666 chr19:56904842-56904856 chr19:56904836-56904847
15	GATA1	chr19:56904750-56905062	PBDEFetal	blood:	n/a	n/a
16	ZBTB33	chr19:56904788-56905313	GM12878	blood:	n/a	chr19:56905027-56905042
17	HEY1	chr19:56904528-56905209	K562	blood:	n/a	chr19:56904843-56904858 chr19:56904835-56904850
18	MAX	chr19:56904377-56905511	A549	lung:	n/a	n/a
19	POLR2A	chr19:56904501-56905234	K562	blood:	n/a	n/a
20	CTCF	chr19:56904417-56905185	K562	blood:	n/a	chr19:56904906-56904919 chr19:56904904-56904920 chr19:56904905-56904926 chr19:56904903-56904921 chr19:56904846-56904859
21	ATF1	chr19:56904376-56905286	K562	blood:	n/a	n/a
22	KAP1	chr19:56904390-56905386	U2OS	brain:	n/a	n/a
23	RUNX3	chr19:56904478-56905005	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:56904743-56905133	K562	blood:	n/a	n/a
25	HEY1	chr19:56904627-56905187	K562	blood:	n/a	chr19:56904843-56904858 chr19:56904835-56904850
26	CREB1	chr19:56904387-56905326	HepG2	liver:	n/a	n/a
27	POLR2A	chr19:56904595-56905191	GM12878	blood:	n/a	n/a
28	ZBTB33	chr19:56904799-56905337	GM12878	blood:	n/a	chr19:56905027-56905042
29	CTCF	chr19:56904840-56904990	HEEpiC	esophagus:	n/a	chr19:56904906-56904919 chr19:56904904-56904920 chr19:56904905-56904926 chr19:56904903-56904921 chr19:56904846-56904859
30	RAD21	chr19:56904451-56905116	SK-N-SH_RA	brain:	n/a	chr19:56904905-56904919 chr19:56904904-56904923 chr19:56904909-56904921
31	POLR2A	chr19:56904605-56905269	GM19193	blood:	n/a	n/a
32	E2F6	chr19:56904462-56905292	A549	lung:	n/a	chr19:56904664-56904673 chr19:56904665-56904672 chr19:56904957-56904967 chr19:56904661-56904673 chr19:56904629-56904646 chr19:56904665-56904672 chr19:56904665-56904672 chr19:56904844-56904853
33	BHLHE40	chr19:56904493-56905290	K562	blood:	n/a	chr19:56904838-56904854 chr19:56904751-56904767 chr19:56904845-56904861 chr19:56904842-56904858
34	PAX5	chr19:56904789-56905186	GM12878	blood:	n/a	chr19:56904840-56904849 chr19:56904981-56905008
35	CHD2	chr19:56904358-56905366	GM12878	blood:	n/a	chr19:56905029-56905038
36	ELF1	chr19:56904440-56905258	K562	blood:	n/a	n/a
37	HCFC1	chr19:56904378-56905324	K562	blood:	n/a	n/a
38	CTCF	chr19:56904481-56905098	Kidney_OC	kidney:	n/a	chr19:56904906-56904919 chr19:56904904-56904920 chr19:56904905-56904926 chr19:56904903-56904921 chr19:56904846-56904859
39	POLR2A	chr19:56904699-56905213	HepG2	liver:	n/a	n/a
40	TAF1	chr19:56904506-56905224	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr19:56904592-56905208	GM12891	blood:	n/a	n/a
42	GABPA	chr19:56904432-56905219	SK-N-SH	brain:	n/a	chr19:56904844-56904853
43	POLR2A	chr19:56904438-56905354	PFSK-1	brain:	n/a	n/a
44	CTCF	chr19:56904488-56905035	GM19240	blood:	n/a	chr19:56904906-56904919 chr19:56904904-56904920 chr19:56904905-56904926 chr19:56904903-56904921 chr19:56904846-56904859
45	CTCF	chr19:56904518-56905024	A549	lung:	n/a	chr19:56904906-56904919 chr19:56904904-56904920 chr19:56904905-56904926 chr19:56904903-56904921 chr19:56904846-56904859
46	ZNF143	chr19:56904427-56905242	H1-hESC	embryonic stem cell:	n/a	chr19:56904957-56904967 chr19:56904667-56904676 chr19:56904669-56904678 chr19:56904660-56904678
47	GTF2F1	chr19:56904486-56905259	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr19:56904596-56905234	GM12878	blood:	n/a	n/a
49	CTCF	chr19:56904419-56905141	IMR90	lung:	n/a	chr19:56904906-56904919 chr19:56904904-56904920 chr19:56904905-56904926 chr19:56904903-56904921 chr19:56904846-56904859
50	ZNF274	chr19:56904791-56904993	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56904901-56904951	CMK	blood:	n/a
2	chr19:56904901-56904951	NT2-D1	testis:	n/a
3	chr19:56904901-56904951	HEEpiC	esophagus:	n/a
4	chr19:56904901-56904951	HRE	kidney:	n/a
5	chr19:56904901-56904951	NB4	blood:	n/a
6	chr19:56904901-56904951	HCF	heart:	n/a
7	chr19:56904901-56904951	RPTEC	kidney:	n/a
8	chr19:56904901-56904951	HCM	heart:	n/a
9	chr19:56904901-56904951	Hela-S3	cervix:	n/a
10	chr19:56904901-56904951	LNCaP	prostate:	n/a
11	chr19:56904901-56904951	H1-hESC	embryonic stem cell:	embryo
12	chr19:56904901-56904951	PrEC	prostate:	n/a
13	chr19:56904901-56904951	HMEC	breast:	n/a
14	chr19:56904901-56904951	IMR90	lung:	fetal
15	chr19:56904901-56904951	MCF-7	breast:	n/a
16	chr19:56904901-56904951	AG10803	skin:	n/a
17	chr19:56904901-56904951	BE2_C	brain:	n/a
18	chr19:56904901-56904951	U87	brain:	n/a
19	chr19:56904901-56904951	HPAEpiC	pulmonary alveolar:	n/a
20	chr19:56904901-56904951	AoSMC	blood vessel:	n/a
21	chr19:56904901-56904951	ECC-1	luminal epithelium:	n/a
22	chr19:56904901-56904951	HUVEC	blood vessel:	n/a
23	chr19:56904901-56904951	K562	blood:	n/a
24	chr19:56904901-56904951	HepG2	liver:	n/a
25	chr19:56904901-56904951	ProgFib	skin:	n/a
26	chr19:56904901-56904951	AG09309	skin:	n/a
27	chr19:56904901-56904951	HIPEpiC	eye:	n/a
28	chr19:56904901-56904951	Jurkat	blood:	n/a
29	chr19:56904901-56904951	HAEpiC	amniotic membrane:	n/a
30	chr19:56904901-56904951	A549	lung:	n/a
31	chr19:56904901-56904951	HCPEpiC	choroid plexus:	n/a
32	chr19:56904901-56904951	SK-N-SH	brain:	n/a
33	chr19:56904901-56904951	NH-A	brain:	n/a
34	chr19:56904901-56904951	GM19239	blood:	n/a
35	chr19:56904901-56904951	AG04449	skin:	fetal
36	chr19:56904901-56904951	PANC-1	pancreas:	n/a
37	chr19:56904901-56904951	Hepatocyte	liver:	n/a
38	chr19:56904901-56904951	AG09319	gingival:	n/a
39	chr19:56904901-56904951	HRPEpiC	eye:	n/a
40	chr19:56904901-56904951	GM12878	blood:	n/a
41	chr19:56904901-56904951	HL-60	blood:	n/a
42	chr19:56904901-56904951	T-47D	breast:	n/a
43	chr19:56904901-56904951	ovcar-3	ovarian:	n/a
44	chr19:56904901-56904951	GM12892	blood:	n/a
45	chr19:56904901-56904951	HEK293	kidney:	embryo
46	chr19:56904901-56904951	SK-N-SH_RA	brain:	n/a
47	chr19:56904901-56904951	AG04450	lung:	fetal
48	chr19:56904901-56904951	MCF10A-Er-Src	breast:	n/a
49	chr19:56904901-56904951	SK-N-MC	brain:	n/a
50	chr19:56904901-56904951	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:56878056..56881655-chr19:56903333..56906269,5	K562	blood:
2	chr19:56630391..56632820-chr19:56902199..56906311,3	K562	blood:
3	chr19:56896992..56902951-chr19:56903012..56907037,12	K562	blood:
4	chr19:56902006..56908060-chr19:56909612..56917978,15	K562	blood:
5	chr19:56878151..56881655-chr19:56903333..56906269,7	K562	blood:
6	chr19:56895475..56897823-chr19:56903707..56905886,2	K562	blood:
7	chr19:56825335..56828118-chr19:56903219..56906332,4	K562	blood:
8	chr19:56630391..56632820-chr19:56902199..56904998,2	K562	blood:
9	chr19:56825335..56828118-chr19:56903219..56905060,3	K562	blood:
10	chr19:56902257..56906485-chr19:56913118..56917978,7	K562	blood:
11	chr19:56886550..56889123-chr19:56903257..56905976,3	K562	blood:

Variant related genes	Relation type
ZNF583	TF binding region
ZNF582-AS1	TF binding region
ZNF582	TF binding region
ZNF582-AS1	CpG island
ZNF583	CpG island
ZNF582	CpG island
ENSG00000131848	Chromatin interaction
ENSG00000267549	Chromatin interaction
ENSG00000200646	Chromatin interaction
ENSG00000142409	Chromatin interaction
ENSG00000267192	Chromatin interaction
ENSG00000240225	Chromatin interaction
ENSG00000267606	Chromatin interaction
ENSG00000267781	Chromatin interaction
ENSG00000198440	Chromatin interaction
ENSG00000267776	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56068433	1.00[AMR][1000 genomes]
rs57562849	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60451375	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73937255	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73937258	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73937259	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73937276	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
2	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active 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	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56900000-56906800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:56903400-56905200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:56903400-56906000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:56903600-56905000	Active TSS	Fetal Brain Male	brain
5	chr19:56903600-56905600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr19:56903600-56906200	Active TSS	Stomach Smooth Muscle	stomach
7	chr19:56903600-56907000	ZNF genes & repeats	A549	lung
8	chr19:56903800-56905000	Active TSS	NHEK	skin
9	chr19:56903800-56905200	Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr19:56903800-56905200	Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr19:56903800-56905200	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr19:56903800-56905600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:56903800-56906000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:56903800-56906000	Active TSS	Muscle Satellite Cultured Cells	--
15	chr19:56903800-56906000	Active TSS	Rectal Smooth Muscle	rectum
16	chr19:56904000-56905000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:56904000-56905000	Active TSS	K562	blood
18	chr19:56904000-56905200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr19:56904000-56905600	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr19:56904000-56905600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:56904000-56905600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr19:56904000-56905600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:56904000-56905600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr19:56904000-56905800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:56904000-56905800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr19:56904000-56905800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:56904000-56906000	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr19:56904200-56905000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr19:56904200-56905000	Active TSS	Aorta	Aorta
30	chr19:56904200-56905000	Active TSS	Duodenum Mucosa	Duodenum
31	chr19:56904200-56905000	Active TSS	NH-A	brain
32	chr19:56904200-56905200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:56904200-56905200	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr19:56904200-56905200	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr19:56904200-56905200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr19:56904200-56905200	Active TSS	Fetal Brain Female	brain
37	chr19:56904200-56905200	Active TSS	Fetal Intestine Large	intestine
38	chr19:56904200-56905200	Active TSS	Fetal Intestine Small	intestine
39	chr19:56904200-56905200	Active TSS	Right Ventricle	heart
40	chr19:56904200-56905200	Active TSS	Stomach Mucosa	stomach
41	chr19:56904200-56905200	Active TSS	HepG2	liver
42	chr19:56904200-56905600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:56904200-56905600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr19:56904200-56905600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:56904200-56905600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:56904200-56905600	Active TSS	Brain Anterior Caudate	brain
47	chr19:56904200-56905600	Active TSS	Brain Cingulate Gyrus	brain
48	chr19:56904200-56905600	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr19:56904200-56905600	Active TSS	Fetal Kidney	kidney
50	chr19:56904200-56905600	Active TSS	Psoas Muscle	Psoas

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