Variant report

Variant	rs45623332
Chromosome Location	chr5:61699465-61699466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:389)
CpG islands
(count:61)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr5:61698981-61700386	A549	lung:	n/a	n/a
2	MYC	chr5:61699302-61699994	MCF-7	breast:	n/a	n/a
3	HCFC1	chr5:61699222-61700114	K562	blood:	n/a	n/a
4	SP1	chr5:61699192-61700014	GM12878	blood:	n/a	chr5:61699732-61699744 chr5:61699732-61699744 chr5:61699389-61699403
5	MAZ	chr5:61698937-61700263	IMR90	lung:	n/a	chr5:61700046-61700062
6	BCL3	chr5:61699459-61700129	A549	lung:	n/a	n/a
7	POLR2A	chr5:61699352-61700061	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr5:61699123-61700044	GM12891	blood:	n/a	n/a
9	USF1	chr5:61699430-61700015	A549	lung:	n/a	n/a
10	NR2F2	chr5:61699156-61700332	K562	blood:	n/a	n/a
11	GABPA	chr5:61699176-61699985	K562	blood:	n/a	n/a
12	ZKSCAN1	chr5:61699340-61700139	Hela-S3	cervix:	n/a	n/a
13	TCF3	chr5:61699106-61699758	GM12878	blood:	n/a	n/a
14	STAT5A	chr5:61699374-61700231	K562	blood:	n/a	chr5:61699795-61699815 chr5:61699822-61699830
15	TAF1	chr5:61699121-61700152	GM12878	blood:	n/a	n/a
16	TAF1	chr5:61699194-61700130	K562	blood:	n/a	n/a
17	POLR2A	chr5:61699155-61700197	K562	blood:	n/a	n/a
18	RFX5	chr5:61699154-61700008	GM12878	blood:	n/a	n/a
19	ZNF143	chr5:61699181-61700278	GM12878	blood:	n/a	chr5:61699847-61699865 chr5:61699798-61699816
20	KAP1	chr5:61699273-61700185	U2OS	brain:	n/a	n/a
21	TAF1	chr5:61699237-61699991	GM12891	blood:	n/a	n/a
22	POLR2A	chr5:61699041-61700231	GM12892	blood:	n/a	n/a
23	BCLAF1	chr5:61699312-61700219	GM12878	blood:	n/a	n/a
24	TAF1	chr5:61699257-61699989	HepG2	liver:	n/a	n/a
25	EP300	chr5:61699301-61700272	A549	lung:	n/a	n/a
26	SIN3AK20	chr5:61699017-61700221	HCT-116	colon:	n/a	n/a
27	POLR2A	chr5:61699007-61700249	GM19099	blood:	n/a	n/a
28	SPI1	chr5:61699101-61699580	HL-60	blood:	n/a	n/a
29	MAX	chr5:61699136-61700064	K562	blood:	n/a	chr5:61700046-61700062
30	MAX	chr5:61699109-61700238	Hela-S3	cervix:	n/a	chr5:61700046-61700062
31	BRCA1	chr5:61699311-61699825	GM12878	blood:	n/a	n/a
32	NR2F2	chr5:61699221-61700190	MCF-7	breast:	n/a	n/a
33	RUNX3	chr5:61698989-61700269	GM12878	blood:	n/a	n/a
34	CEBPB	chr5:61699457-61699747	HepG2	liver:	n/a	n/a
35	POLR2A	chr5:61699186-61700218	HUVEC	blood vessel:	n/a	n/a
36	FOXP2	chr5:61699251-61699970	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr5:61699410-61700168	HCT-116	colon:	n/a	n/a
38	POLR2A	chr5:61699306-61700246	HEK293	kidney:	n/a	n/a
39	SIN3AK20	chr5:61698984-61700308	MCF-7	breast:	n/a	n/a
40	ELK1	chr5:61699122-61699941	GM12878	blood:	n/a	n/a
41	BHLHE40	chr5:61699160-61700240	GM12878	blood:	n/a	chr5:61699359-61699375 chr5:61700038-61700059 chr5:61700045-61700054
42	POLR2A	chr5:61699252-61700147	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr5:61698990-61700178	HepG2	liver:	n/a	n/a
44	RCOR1	chr5:61699165-61699995	K562	blood:	n/a	n/a
45	MYC	chr5:61699295-61699951	MCF-7	breast:	n/a	n/a
46	MAX	chr5:61699129-61700285	SK-N-SH	brain:	n/a	chr5:61700046-61700062
47	TCF12	chr5:61699215-61699764	GM12878	blood:	n/a	n/a
48	ELF1	chr5:61699199-61699998	K562	blood:	n/a	chr5:61699422-61699434
49	RCOR1	chr5:61699221-61700150	K562	blood:	n/a	n/a
50	PAX5	chr5:61699239-61699848	GM12892	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:61699416-61699466	Caco-2	colon:	n/a
2	chr5:61699416-61699466	GM06990	blood:	n/a
3	chr5:61699416-61699466	CMK	blood:	n/a
4	chr5:61699416-61699466	AG09319	gingival:	n/a
5	chr5:61699416-61699466	U87	brain:	n/a
6	chr5:61699416-61699466	PANC-1	pancreas:	n/a
7	chr5:61699416-61699466	IMR90	lung:	fetal
8	chr5:61699416-61699466	GM12878	blood:	n/a
9	chr5:61699416-61699466	RPTEC	kidney:	n/a
10	chr5:61699416-61699466	HCF	heart:	n/a
11	chr5:61699416-61699466	K562	blood:	n/a
12	chr5:61699416-61699466	HRPEpiC	eye:	n/a
13	chr5:61699416-61699466	AG04450	lung:	fetal
14	chr5:61699416-61699466	Hepatocyte	liver:	n/a
15	chr5:61699416-61699466	GM19239	blood:	n/a
16	chr5:61699416-61699466	HUVEC	blood vessel:	n/a
17	chr5:61699416-61699466	SK-N-SH	brain:	n/a
18	chr5:61699416-61699466	NB4	blood:	n/a
19	chr5:61699416-61699466	SK-N-SH_RA	brain:	n/a
20	chr5:61699416-61699466	HAEpiC	amniotic membrane:	n/a
21	chr5:61699416-61699466	NH-A	brain:	n/a
22	chr5:61699416-61699466	NHBE	bronchial:	n/a
23	chr5:61699416-61699466	ovcar-3	ovarian:	n/a
24	chr5:61699416-61699466	LNCaP	prostate:	n/a
25	chr5:61699416-61699466	SKMC	muscle:	n/a
26	chr5:61699416-61699466	Jurkat	blood:	n/a
27	chr5:61699416-61699466	NT2-D1	testis:	n/a
28	chr5:61699416-61699466	AG09309	skin:	n/a
29	chr5:61699416-61699466	ProgFib	skin:	n/a
30	chr5:61699416-61699466	A549	lung:	n/a
31	chr5:61699416-61699466	SAEC	small airway:	n/a
32	chr5:61699416-61699466	HCM	heart:	n/a
33	chr5:61699416-61699466	HL-60	blood:	n/a
34	chr5:61699416-61699466	AoSMC	blood vessel:	n/a
35	chr5:61699416-61699466	MCF10A-Er-Src	breast:	n/a
36	chr5:61699416-61699466	GM12892	blood:	n/a
37	chr5:61699416-61699466	T-47D	breast:	n/a
38	chr5:61699416-61699466	AG10803	skin:	n/a
39	chr5:61699416-61699466	Hela-S3	cervix:	n/a
40	chr5:61699416-61699466	HepG2	liver:	n/a
41	chr5:61699416-61699466	HCT-116	colon:	n/a
42	chr5:61699416-61699466	HEEpiC	esophagus:	n/a
43	chr5:61699416-61699466	HNPCEpiC	eye:	n/a
44	chr5:61699416-61699466	BJ	skin:	n/a
45	chr5:61699416-61699466	HRCEpiC	kidney:	n/a
46	chr5:61699416-61699466	PFSK-1	brain:	n/a
47	chr5:61699416-61699466	HCPEpiC	choroid plexus:	n/a
48	chr5:61699416-61699466	HPAEpiC	pulmonary alveolar:	n/a
49	chr5:61699416-61699466	NHDF-neo	bronchial:	n/a
50	chr5:61699416-61699466	HMEC	breast:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:28974967..28975867-chr5:61699247..61700190,2	HCT-116	colon:
2	chr10:102756791..102757531-chr5:61699378..61699994,2	Hela-S3	cervix:
3	chr5:61601799..61604714-chr5:61698844..61701505,2	MCF-7	breast:
4	chr20:3776283..3777174-chr5:61699331..61700077,2	NB4	blood:
5	chr15:72519248..72520809-chr5:61697872..61699713,2	MCF-7	breast:
6	chr11:9482051..9482929-chr5:61699444..61700280,2	Hela-S3	cervix:
7	chr17:36905453..36906182-chr5:61699245..61700104,2	Hela-S3	cervix:
8	chr5:33441059..33441887-chr5:61699315..61700146,2	Hela-S3	cervix:
9	chr5:61686012..61687975-chr5:61698243..61700042,2	MCF-7	breast:
10	chr5:61696503..61703698-chr5:61706632..61711868,15	MCF-7	breast:
11	chr3:123679554..123680185-chr5:61699459..61700173,2	NB4	blood:
12	chr11:33036802..33037655-chr5:61699205..61699998,2	Hela-S3	cervix:
13	chr5:61601759..61603415-chr5:61698105..61699743,2	K562	blood:
14	chr5:61696900..61702493-chr5:61705289..61710261,23	K562	blood:
15	chr11:65189973..65190570-chr5:61699256..61699811,2	MCF-7	breast:
16	chr5:61601492..61604171-chr5:61697960..61699657,3	K562	blood:
17	chr1:110950335..110950883-chr5:61699378..61700371,2	Hela-S3	cervix:
18	chr5:61697532..61701694-chr5:61703408..61710603,12	MCF-7	breast:
19	chr5:61686508..61688949-chr5:61697910..61699480,2	MCF-7	breast:
20	chr5:61601958..61603491-chr5:61698096..61700949,2	MCF-7	breast:

No data

Variant related genes	Relation type
IPO11	TF binding region
IPO11	CpG island
ENSG00000134248	Chromatin interaction
ENSG00000121690	Chromatin interaction
ENSG00000086189	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000227450	Chromatin interaction
ENSG00000107816	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000086200	Chromatin interaction
ENSG00000175455	Chromatin interaction
ENSG00000056661	Chromatin interaction
ENSG00000068796	Chromatin interaction
ENSG00000101224	Chromatin interaction
ENSG00000113407	Chromatin interaction
ENSG00000224699	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10514936	0.95[ASN][1000 genomes]
rs17382964	0.95[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17467162	0.95[ASN][1000 genomes]
rs17467190	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3776633	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6866966	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv881727	chr5:61578041-61700970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
8	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	esv2757117	chr5:61649403-61748912	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	esv35035	chr5:61657943-61792243	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr5:61697800-61700800	Active TSS	NHLF	lung
2	chr5:61698000-61700200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:61698000-61700800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr5:61698000-61700800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:61698000-61700800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:61698200-61700600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr5:61698200-61700600	Active TSS	Psoas Muscle	Psoas
8	chr5:61698200-61700600	Active TSS	Right Ventricle	heart
9	chr5:61698200-61700800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr5:61698200-61700800	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr5:61698200-61701000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:61698400-61699600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:61698400-61700400	Active TSS	Ovary	ovary
14	chr5:61698400-61700600	Active TSS	HSMM	muscle
15	chr5:61698400-61700800	Active TSS	H1 Cell Line	embryonic stem cell
16	chr5:61698400-61700800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:61698400-61700800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:61698400-61700800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr5:61698400-61700800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:61698400-61700800	Active TSS	Brain Substantia Nigra	brain
21	chr5:61698400-61700800	Active TSS	GM12878-XiMat	blood
22	chr5:61698400-61700800	Active TSS	NHDF-Ad	bronchial
23	chr5:61698400-61701000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:61698400-61701000	Active TSS	Stomach Smooth Muscle	stomach
25	chr5:61698600-61700400	Active TSS	Fetal Brain Male	brain
26	chr5:61698600-61700600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:61698600-61700600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:61698600-61700600	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr5:61698600-61700600	Active TSS	Fetal Stomach	stomach
30	chr5:61698600-61700600	Active TSS	NH-A	brain
31	chr5:61698600-61700600	Active TSS	NHEK	skin
32	chr5:61698600-61700800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:61698600-61700800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:61698600-61700800	Active TSS	Hela-S3	cervix
35	chr5:61698600-61700800	Active TSS	HMEC	breast
36	chr5:61698600-61700800	Active TSS	HSMMtube	muscle
37	chr5:61698600-61700800	Active TSS	K562	blood
38	chr5:61698600-61701000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:61698600-61701000	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr5:61698800-61700000	Active TSS	Primary T cells fromperipheralblood	blood
41	chr5:61698800-61700200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:61698800-61700400	Active TSS	Fetal Lung	lung
43	chr5:61698800-61700600	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr5:61698800-61700600	Active TSS	Fetal Intestine Large	intestine
45	chr5:61698800-61700600	Active TSS	Fetal Muscle Trunk	muscle
46	chr5:61698800-61700600	Active TSS	HUVEC	blood vessel
47	chr5:61698800-61700600	Active TSS	Osteobl	bone
48	chr5:61698800-61700800	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr5:61698800-61700800	Active TSS	Aorta	Aorta
50	chr5:61698800-61700800	Active TSS	Thymus	Thymus

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