Variant report

Variant	rs73787784
Chromosome Location	chr5:111497125-111497126
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:193)
CpG islands
(count:122)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:193 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:111496258-111497754	K562	blood:	n/a	n/a
2	POLR2A	chr5:111496225-111497753	Hela-S3	cervix:	n/a	n/a
3	KAP1	chr5:111496252-111497476	K562	blood:	n/a	chr5:111497367-111497375
4	MAX	chr5:111496339-111497191	K562	blood:	n/a	n/a
5	SIN3AK20	chr5:111496019-111497316	MCF-7	breast:	n/a	n/a
6	MAX	chr5:111496196-111497358	K562	blood:	n/a	n/a
7	POLR2A	chr5:111496147-111497649	HepG2	liver:	n/a	n/a
8	POLR2A	chr5:111496140-111497755	HCT-116	colon:	n/a	n/a
9	POLR2A	chr5:111496340-111497650	GM12892	blood:	n/a	n/a
10	HEY1	chr5:111496305-111497779	K562	blood:	n/a	n/a
11	POLR2A	chr5:111496220-111497651	GM12891	blood:	n/a	n/a
12	SMARCB1	chr5:111495895-111497310	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr5:111496264-111497589	GM12892	blood:	n/a	n/a
14	POLR2A	chr5:111496196-111503843	GM12878	blood:	n/a	n/a
15	KAP1	chr5:111496105-111497373	HEK293	kidney:	n/a	n/a
16	EP300	chr5:111496328-111497442	K562	blood:	n/a	n/a
17	POLR2A	chr5:111496176-111497825	PFSK-1	brain:	n/a	n/a
18	MAX	chr5:111496198-111497248	MCF-7	breast:	n/a	n/a
19	POLR2A	chr5:111496138-111497836	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr5:111496202-111497183	U87	brain:	n/a	n/a
21	MYC	chr5:111496295-111497289	Hela-S3	cervix:	n/a	n/a
22	SIX5	chr5:111496068-111497515	A549	lung:	n/a	n/a
23	RCOR1	chr5:111497116-111497316	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:111496224-111497413	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr5:111496270-111497708	HUVEC	blood vessel:	n/a	n/a
26	STAT5A	chr5:111496178-111497368	GM12878	blood:	n/a	n/a
27	MAX	chr5:111496122-111497335	MCF-7	breast:	n/a	n/a
28	POLR2A	chr5:111495953-111497510	ECC-1	luminal epithelium:	n/a	n/a
29	ZNF263	chr5:111496088-111497677	HEK293-T-REx	kidney:	n/a	n/a
30	ATF2	chr5:111496169-111497296	GM12878	blood:	n/a	n/a
31	POLR2A	chr5:111497090-111497373	A549	lung:	n/a	n/a
32	POLR2A	chr5:111496133-111504388	GM12891	blood:	n/a	n/a
33	TBL1XR1	chr5:111496256-111497621	K562	blood:	n/a	n/a
34	MAX	chr5:111496173-111497195	HepG2	liver:	n/a	n/a
35	MYC	chr5:111496325-111497187	HUVEC	blood vessel:	n/a	n/a
36	SREBP1	chr5:111495809-111498426	GM12878	blood:	n/a	n/a
37	POLR2A	chr5:111496342-111497419	HL-60	blood:	n/a	n/a
38	BCL3	chr5:111496157-111497392	A549	lung:	n/a	n/a
39	POLR2A	chr5:111495918-111502786	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr5:111496280-111506960	MCF10A-Er-Src	breast:	n/a	n/a
41	FOSL2	chr5:111496164-111497127	A549	lung:	n/a	n/a
42	POLR2A	chr5:111497075-111497552	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr5:111496106-111497866	HUVEC	blood vessel:	n/a	n/a
44	USF2	chr5:111496943-111497142	GM12878	blood:	n/a	n/a
45	MXI1	chr5:111496250-111497453	GM12878	blood:	n/a	n/a
46	MBD4	chr5:111496231-111497163	HepG2	liver:	n/a	n/a
47	POLR2A	chr5:111496209-111497714	H1-hESC	embryonic stem cell:	n/a	n/a
48	YY1	chr5:111496273-111497142	GM12878	blood:	n/a	n/a
49	POLR2A	chr5:111496176-111497466	NB4	blood:	n/a	n/a
50	JUND	chr5:111495871-111497830	SK-N-SH	brain:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:111497123-111497173	HEEpiC	esophagus:	n/a
2	chr5:111497123-111497173	GM12891	blood:	n/a
3	chr5:111497123-111497173	SK-N-SH	brain:	n/a
4	chr5:111497076-111497126	BE2_C	brain:	n/a
5	chr5:111497123-111497173	HCT-116	colon:	n/a
6	chr5:111497076-111497126	HCF	heart:	n/a
7	chr5:111497123-111497173	PANC-1	pancreas:	n/a
8	chr5:111497076-111497126	LNCaP	prostate:	n/a
9	chr5:111497076-111497126	AG10803	skin:	n/a
10	chr5:111497076-111497126	MCF-7	breast:	n/a
11	chr5:111497076-111497126	PANC-1	pancreas:	n/a
12	chr5:111497123-111497173	U87	brain:	n/a
13	chr5:111497123-111497173	HRCEpiC	kidney:	n/a
14	chr5:111497076-111497126	SK-N-SH_RA	brain:	n/a
15	chr5:111497123-111497173	NHDF-neo	bronchial:	n/a
16	chr5:111497123-111497173	BJ	skin:	n/a
17	chr5:111497123-111497173	GM12892	blood:	n/a
18	chr5:111497076-111497126	HCPEpiC	choroid plexus:	n/a
19	chr5:111497076-111497126	HCM	heart:	n/a
20	chr5:111497123-111497173	AG04450	lung:	fetal
21	chr5:111497123-111497173	NB4	blood:	n/a
22	chr5:111497123-111497173	AG09319	gingival:	n/a
23	chr5:111497076-111497126	GM06990	blood:	n/a
24	chr5:111497076-111497126	HRCEpiC	kidney:	n/a
25	chr5:111497123-111497173	NHBE	bronchial:	n/a
26	chr5:111497123-111497173	HL-60	blood:	n/a
27	chr5:111497076-111497126	HEK293	kidney:	embryo
28	chr5:111497076-111497126	H1-hESC	embryonic stem cell:	embryo
29	chr5:111497076-111497126	NHBE	bronchial:	n/a
30	chr5:111497076-111497126	HAEpiC	amniotic membrane:	n/a
31	chr5:111497123-111497173	SKMC	muscle:	n/a
32	chr5:111497076-111497126	SAEC	small airway:	n/a
33	chr5:111497123-111497173	AG10803	skin:	n/a
34	chr5:111497123-111497173	LNCaP	prostate:	n/a
35	chr5:111497076-111497126	SKMC	muscle:	n/a
36	chr5:111497076-111497126	NB4	blood:	n/a
37	chr5:111497076-111497126	PrEC	prostate:	n/a
38	chr5:111497076-111497126	ProgFib	skin:	n/a
39	chr5:111497123-111497173	HUVEC	blood vessel:	n/a
40	chr5:111497076-111497126	HepG2	liver:	n/a
41	chr5:111497123-111497173	HCM	heart:	n/a
42	chr5:111497123-111497173	MCF10A-Er-Src	breast:	n/a
43	chr5:111497076-111497126	NT2-D1	testis:	n/a
44	chr5:111497123-111497173	ProgFib	skin:	n/a
45	chr5:111497076-111497126	HL-60	blood:	n/a
46	chr5:111497076-111497126	AG04450	lung:	fetal
47	chr5:111497076-111497126	HUVEC	blood vessel:	n/a
48	chr5:111497076-111497126	A549	lung:	n/a
49	chr5:111497123-111497173	A549	lung:	n/a
50	chr5:111497123-111497173	Hepatocyte	liver:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:110427038..110429477-chr5:111496823..111498609,2	K562	blood:
2	chr5:111495904..111497786-chr5:111539852..111541904,2	K562	blood:
3	chr5:110427977..110430088-chr5:111495107..111498582,4	K562	blood:
4	chr5:111092933..111095338-chr5:111496527..111499231,3	MCF-7	breast:
5	chr5:110848261..110848945-chr5:111496662..111497279,2	K562	blood:
6	chr5:111496508..111497358-chr6:31795058..31795974,2	NB4	blood:
7	chr5:111495302..111497808-chr5:111754204..111756858,3	MCF-7	breast:
8	chr5:110848137..110849903-chr5:111495270..111497479,2	MCF-7	breast:
9	chr5:110846086..110848469-chr5:111495331..111498521,3	K562	blood:
10	chr5:111496976..111498708-chr5:111754134..111756098,2	MCF-7	breast:
11	chr5:110847947..110849920-chr5:111495605..111497967,3	K562	blood:
12	chr5:111496112..111498947-chr5:112256676..112259616,2	K562	blood:

No data

Variant related genes	Relation type
SNORA13	TF binding region
SNORA13	CpG island
ENSG00000134987	Chromatin interaction
ENSG00000129625	Chromatin interaction
ENSG00000164211	Chromatin interaction
ENSG00000251187	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000129595	Chromatin interaction
ENSG00000268358	Chromatin interaction
ENSG00000246859	Chromatin interaction
ENSG00000253613	Chromatin interaction
ENSG00000134986	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs17134152	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17134153	0.90[EUR][1000 genomes]
rs17134154	0.90[EUR][1000 genomes]
rs17134156	0.90[EUR][1000 genomes]
rs17265886	1.00[ASN][1000 genomes]
rs17266115	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17266727	0.87[ASN][1000 genomes]
rs17266771	0.87[ASN][1000 genomes]
rs1975014	0.87[ASN][1000 genomes]
rs27982	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55641410	0.90[EUR][1000 genomes]
rs55812441	1.00[ASN][1000 genomes]
rs56071312	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56092269	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56158171	1.00[ASN][1000 genomes]
rs57349429	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57541807	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60370278	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61482608	1.00[ASN][1000 genomes]
rs6898536	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73227490	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73227492	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73227493	0.81[EUR][1000 genomes]
rs73227496	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73227498	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73787775	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73787779	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73787781	1.00[ASN][1000 genomes]
rs73787782	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7449256	1.00[ASN][1000 genomes]
rs7700705	1.00[ASN][1000 genomes]
rs7711555	1.00[ASN][1000 genomes]
rs7720064	1.00[ASN][1000 genomes]
rs7720344	1.00[ASN][1000 genomes]
rs7730334	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731129	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919243	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 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	chr5:111496000-111497200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr5:111496000-111497200	Active TSS	Primary T helper naive cells from peripheral blood	blood
3	chr5:111496000-111497200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr5:111496000-111497200	Active TSS	Fetal Kidney	kidney
5	chr5:111496000-111497200	Active TSS	A549	lung
6	chr5:111496000-111497200	Active TSS	Osteobl	bone
7	chr5:111496000-111497400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:111496000-111497400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:111496000-111497400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:111496000-111497400	Active TSS	Fetal Brain Female	brain
11	chr5:111496000-111497400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr5:111496000-111497400	Active TSS	HSMM	muscle
13	chr5:111496000-111497600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:111496000-111497800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:111496000-111497800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:111496000-111497800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:111496000-111497800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:111496000-111497800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:111496000-111497800	Active TSS	Ovary	ovary
20	chr5:111496000-111497800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr5:111496000-111497800	Active TSS	NHLF	lung
22	chr5:111496200-111497200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:111496200-111497200	Active TSS	Thymus	Thymus
24	chr5:111496200-111497200	Active TSS	HSMMtube	muscle
25	chr5:111496200-111497200	Active TSS	HUVEC	blood vessel
26	chr5:111496200-111497600	Active TSS	Fetal Intestine Small	intestine
27	chr5:111496200-111497800	Active TSS	H9 Cell Line	embryonic stem cell
28	chr5:111496200-111497800	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr5:111496200-111497800	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr5:111496200-111497800	Active TSS	Fetal Heart	heart
31	chr5:111496200-111498000	Active TSS	H1 Cell Line	embryonic stem cell
32	chr5:111496200-111498200	Active TSS	Psoas Muscle	Psoas
33	chr5:111496200-111498200	Active TSS	Right Atrium	heart
34	chr5:111496400-111497200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:111496400-111497200	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr5:111496400-111497200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr5:111496400-111497200	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr5:111496400-111497200	Active TSS	Liver	Liver
39	chr5:111496400-111497200	Active TSS	Brain Anterior Caudate	brain
40	chr5:111496400-111497200	Active TSS	Brain Cingulate Gyrus	brain
41	chr5:111496400-111497200	Active TSS	Brain Hippocampus Middle	brain
42	chr5:111496400-111497200	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr5:111496400-111497200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr5:111496400-111497200	Active TSS	Brain Substantia Nigra	brain
45	chr5:111496400-111497200	Active TSS	Colonic Mucosa	Colon
46	chr5:111496400-111497200	Active TSS	Colon Smooth Muscle	Colon
47	chr5:111496400-111497200	Active TSS	Duodenum Mucosa	Duodenum
48	chr5:111496400-111497200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr5:111496400-111497200	Active TSS	Fetal Lung	lung
50	chr5:111496400-111497200	Active TSS	Fetal Muscle Leg	muscle

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