Variant report

Variant	rs73937258
Chromosome Location	chr19:56905293-56905294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr19:56904574-56905371	GM12878	blood:	n/a	chr19:56904840-56904849 chr19:56904981-56905008
2	CEBPB	chr19:56905153-56905462	K562	blood:	n/a	n/a
3	ZBTB33	chr19:56904788-56905313	GM12878	blood:	n/a	chr19:56905027-56905042
4	MAX	chr19:56904377-56905511	A549	lung:	n/a	n/a
5	KAP1	chr19:56904390-56905386	U2OS	brain:	n/a	n/a
6	CREB1	chr19:56904387-56905326	HepG2	liver:	n/a	n/a
7	ZBTB33	chr19:56904799-56905337	GM12878	blood:	n/a	chr19:56905027-56905042
8	CHD2	chr19:56904358-56905366	GM12878	blood:	n/a	chr19:56905029-56905038
9	HCFC1	chr19:56904378-56905324	K562	blood:	n/a	n/a
10	POLR2A	chr19:56904438-56905354	PFSK-1	brain:	n/a	n/a
11	GTF3C2	chr19:56904704-56905420	K562	blood:	n/a	n/a
12	SP1	chr19:56904433-56905445	A549	lung:	n/a	n/a
13	POLR2A	chr19:56904395-56905387	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr19:56904451-56905386	H1-neurons	neurons:	n/a	n/a
15	CHD2	chr19:56904516-56905456	K562	blood:	n/a	chr19:56905029-56905038
16	POLR2A	chr19:56904488-56905358	HL-60	blood:	n/a	n/a
17	RCOR1	chr19:56904527-56905379	K562	blood:	n/a	n/a
18	MAX	chr19:56904435-56905309	K562	blood:	n/a	n/a
19	POLR2A	chr19:56904563-56905335	GM12891	blood:	n/a	n/a
20	POLR2A	chr19:56904469-56905338	H1-neurons	neurons:	n/a	n/a
21	GATA3	chr19:56904794-56905412	SH-SY5Y	brain:	n/a	n/a
22	IRF4	chr19:56904885-56905365	GM12878	blood:	n/a	n/a
23	CBX3	chr19:56904439-56905470	K562	blood:	n/a	n/a
24	ZBTB33	chr19:56904586-56905392	A549	lung:	n/a	chr19:56905027-56905042
25	CBX3	chr19:56904783-56905556	K562	blood:	n/a	n/a
26	POLR2A	chr19:56904625-56905306	HEK293	kidney:	n/a	n/a
27	SIN3A	chr19:56904449-56905323	H1-hESC	embryonic stem cell:	n/a	n/a
28	SIX5	chr19:56904238-56905449	A549	lung:	n/a	chr19:56904669-56904678 chr19:56904666-56904680 chr19:56904667-56904676
29	ZBTB33	chr19:56904437-56905449	SK-N-SH	brain:	n/a	chr19:56905027-56905042
30	TCF12	chr19:56904364-56905461	A549	lung:	n/a	n/a
31	POU2F2	chr19:56904683-56905386	GM12878	blood:	n/a	chr19:56904847-56904859
32	MAX	chr19:56904406-56905342	A549	lung:	n/a	n/a
33	RCOR1	chr19:56904302-56905733	IMR90	lung:	n/a	n/a
34	MXI1	chr19:56904500-56905356	H1-hESC	embryonic stem cell:	n/a	n/a
35	TAF1	chr19:56904468-56905365	H1-hESC	embryonic stem cell:	n/a	n/a
36	REST	chr19:56904292-56905518	H1-neurons	neurons:	n/a	chr19:56905071-56905084 chr19:56905005-56905015
37	BCL3	chr19:56904514-56905395	A549	lung:	n/a	n/a
38	JUND	chr19:56904319-56905442	H1-hESC	embryonic stem cell:	n/a	n/a
39	JUN	chr19:56904675-56905302	H1-hESC	embryonic stem cell:	n/a	n/a
40	GATA1	chr19:56904425-56905396	PBDE	blood:	n/a	n/a
41	IRF1	chr19:56904553-56905294	K562	blood:	n/a	n/a
42	MAX	chr19:56904495-56905342	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr19:56904485-56905335	SK-N-MC	brain:	n/a	n/a
44	NRF1	chr19:56904558-56905422	GM12878	blood:	n/a	chr19:56904844-56904853
45	CHD2	chr19:56904476-56905486	H1-hESC	embryonic stem cell:	n/a	chr19:56905029-56905038
46	SETDB1	chr19:56904549-56905398	K562	blood:	n/a	chr19:56904656-56904680 chr19:56904967-56904991
47	ZBTB33	chr19:56904474-56905493	A549	lung:	n/a	chr19:56905027-56905042
48	POLR2A	chr19:56904745-56905385	GM12878	blood:	n/a	n/a
49	KAP1	chr19:56904501-56905404	HEK293	kidney:	n/a	n/a
50	POLR2A	chr19:56904527-56905322	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

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	chr19:56902257..56906485-chr19:56913118..56917978,7	K562	blood:
9	chr19:56886550..56889123-chr19:56903257..56905976,3	K562	blood:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF583-1	chr19:56905102-56905422	ENSG00000245902
2	lnc-ZNF583-1	chr19:56905116-56905422	ENSG00000245902
3	lnc-ZNF583-1	chr19:56905087-56905810	ENSG00000245902
4	lnc-ZNF583-1	chr19:56905050-56905422	XLOC_013167
5	lnc-ZNF583-1	chr19:56905087-56905810	XLOC_013167
6	lnc-ZNF583-1	chr19:56905102-56905422	XLOC_013167
7	lnc-ZNF583-1	chr19:56904997-56905422	XLOC_013167
8	lnc-ZNF583-1	chr19:56905076-56905407	XLOC_013167
9	lnc-ZNF583-1	chr19:56904997-56905407	XLOC_013167
10	lnc-ZNF583-1	chr19:56905058-56905407	XLOC_013167
11	lnc-ZNF583-1	chr19:56905077-56905407	XLOC_013167
12	lnc-ZNF583-1	chr19:56905045-56905422	NONHSAT068133
13	lnc-ZNF583-1	chr19:56905045-56905422	NONHSAT068134
14	lnc-ZNF583-1	chr19:56905076-56905407	NONHSAT068139
15	lnc-ZNF583-1	chr19:56905180-56905407	ENSG00000267454.1
16	lnc-ZNF583-1	chr19:56905038-56905422	NONHSAT068131
17	lnc-ZNF583-1	chr19:56905045-56905810	NONHSAT068135
18	lnc-ZNF583-1	chr19:56905038-56905422	NONHSAT068132

No data

Variant related genes	Relation type
ZNF582	TF binding region
ZNF583	TF binding region
ENSG00000200646	Chromatin interaction
ENSG00000267781	Chromatin interaction
ENSG00000267776	Chromatin interaction
ENSG00000267192	Chromatin interaction
ENSG00000267606	Chromatin interaction
ENSG00000267549	Chromatin interaction
ENSG00000240225	Chromatin interaction
ENSG00000198440	Chromatin interaction
ENSG00000142409	Chromatin interaction
ENSG00000131848	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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60451375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73937255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73937256	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73937259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73937276	1.00[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	chr19:56903400-56906000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:56903600-56905600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr19:56903600-56906200	Active TSS	Stomach Smooth Muscle	stomach
5	chr19:56903600-56907000	ZNF genes & repeats	A549	lung
6	chr19:56903800-56905600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr19:56903800-56906000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:56903800-56906000	Active TSS	Muscle Satellite Cultured Cells	--
9	chr19:56903800-56906000	Active TSS	Rectal Smooth Muscle	rectum
10	chr19:56904000-56905600	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr19:56904000-56905600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:56904000-56905600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:56904000-56905600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:56904000-56905600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr19:56904000-56905800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:56904000-56905800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr19:56904000-56905800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:56904000-56906000	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr19:56904200-56905600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:56904200-56905600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:56904200-56905600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr19:56904200-56905600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:56904200-56905600	Active TSS	Brain Anterior Caudate	brain
24	chr19:56904200-56905600	Active TSS	Brain Cingulate Gyrus	brain
25	chr19:56904200-56905600	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr19:56904200-56905600	Active TSS	Fetal Kidney	kidney
27	chr19:56904200-56905600	Active TSS	Psoas Muscle	Psoas
28	chr19:56904200-56905600	Active TSS	HMEC	breast
29	chr19:56904200-56905600	Active TSS	HUVEC	blood vessel
30	chr19:56904200-56905800	Active TSS	H1 Cell Line	embryonic stem cell
31	chr19:56904200-56905800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:56904200-56905800	Active TSS	Fetal Muscle Leg	muscle
33	chr19:56904200-56905800	Active TSS	Fetal Stomach	stomach
34	chr19:56904200-56905800	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr19:56904200-56905800	Active TSS	Right Atrium	heart
36	chr19:56904200-56905800	Active TSS	NHDF-Ad	bronchial
37	chr19:56904200-56906000	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr19:56904400-56905400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:56904400-56905400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr19:56904400-56905400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr19:56904400-56905400	ZNF genes & repeats	Gastric	stomach
42	chr19:56904400-56905400	Active TSS	Left Ventricle	heart
43	chr19:56904400-56905400	Active TSS	Ovary	ovary
44	chr19:56904400-56905400	Active TSS	Placenta Amnion	Placenta Amnion
45	chr19:56904400-56905600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr19:56904400-56905600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr19:56904400-56905600	Active TSS	Primary B cells from cord blood	blood
48	chr19:56904400-56905600	Active TSS	Primary T cells from cord blood	blood
49	chr19:56904400-56905600	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr19:56904400-56905600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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