Variant report

Variant	rs28469095
Chromosome Location	chr19:45655333-45655334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:45655260-45655410	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr19:45655200-45655350	GM12868	blood:	n/a	n/a
3	POLR2A	chr19:45653714-45655388	K562	blood:	n/a	n/a
4	CTCF	chr19:45655200-45655350	HBMEC	blood vessel:	n/a	n/a
5	E2F6	chr19:45655175-45657423	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr19:45655200-45655350	HRPEpiC	eye:	n/a	n/a
7	GABPA	chr19:45655169-45656476	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr19:45655260-45655410	SK-N-SH_RA	brain:	n/a	n/a
9	MAX	chr19:45655239-45657363	H1-hESC	embryonic stem cell:	n/a	chr19:45657081-45657091
10	MXI1	chr19:45654849-45658095	IMR90	lung:	n/a	chr19:45657939-45657948 chr19:45657937-45657946
11	GABPA	chr19:45654975-45656327	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr19:45655233-45655419	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr19:45655300-45655450	HRPEpiC	eye:	n/a	n/a
14	MAX	chr19:45655290-45657356	H1-hESC	embryonic stem cell:	n/a	chr19:45657081-45657091
15	CTCF	chr19:45655240-45655390	HMF	breast:	n/a	n/a
16	POLR2A	chr19:45655329-45656481	GM12878	blood:	n/a	n/a
17	CTCF	chr19:45655240-45655390	AG04449	skin:	n/a	n/a
18	POLR2A	chr19:45654157-45655573	K562	blood:	n/a	n/a
19	POLR2A	chr19:45653572-45656097	SK-N-MC	brain:	n/a	n/a
20	CTCF	chr19:45655205-45655454	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr19:45655268-45655618	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr19:45655259-45656957	GM12878	blood:	n/a	n/a
23	CTCF	chr19:45655220-45655370	HCM	heart:	n/a	n/a
24	CTCF	chr19:45655258-45655357	GM12891	blood:	n/a	n/a
25	CTCF	chr19:45655274-45655334	GM19238	blood:	n/a	n/a
26	POLR2A	chr19:45655288-45655406	GM12878	blood:	n/a	n/a
27	STAT5A	chr19:45655331-45655638	GM12878	blood:	n/a	n/a
28	E2F6	chr19:45655264-45657260	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr19:45655280-45655430	SK-N-SH_RA	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45655294-45655344	SKMC	muscle:	n/a
2	chr19:45655294-45655344	SK-N-SH_RA	brain:	n/a
3	chr19:45655294-45655344	HCM	heart:	n/a
4	chr19:45655294-45655344	A549	lung:	n/a
5	chr19:45655294-45655344	HCT-116	colon:	n/a
6	chr19:45655294-45655344	GM06990	blood:	n/a
7	chr19:45655294-45655344	GM12891	blood:	n/a
8	chr19:45655294-45655344	NT2-D1	testis:	n/a
9	chr19:45655294-45655344	SK-N-SH	brain:	n/a
10	chr19:45655294-45655344	LNCaP	prostate:	n/a
11	chr19:45655294-45655344	HUVEC	blood vessel:	n/a
12	chr19:45655294-45655344	Caco-2	colon:	n/a
13	chr19:45655294-45655344	HRPEpiC	eye:	n/a
14	chr19:45655294-45655344	AG04449	skin:	fetal
15	chr19:45655294-45655344	HRE	kidney:	n/a
16	chr19:45655294-45655344	AG09319	gingival:	n/a
17	chr19:45655294-45655344	HNPCEpiC	eye:	n/a
18	chr19:45655294-45655344	H1-hESC	embryonic stem cell:	embryo
19	chr19:45655294-45655344	ECC-1	luminal epithelium:	n/a
20	chr19:45655294-45655344	GM19239	blood:	n/a
21	chr19:45655294-45655344	Hela-S3	cervix:	n/a
22	chr19:45655294-45655344	MCF10A-Er-Src	breast:	n/a
23	chr19:45655294-45655344	AG09309	skin:	n/a
24	chr19:45655294-45655344	PrEC	prostate:	n/a
25	chr19:45655294-45655344	T-47D	breast:	n/a
26	chr19:45655294-45655344	PANC-1	pancreas:	n/a
27	chr19:45655294-45655344	NHBE	bronchial:	n/a
28	chr19:45655294-45655344	MCF-7	breast:	n/a
29	chr19:45655294-45655344	ProgFib	skin:	n/a
30	chr19:45655294-45655344	HPAEpiC	pulmonary alveolar:	n/a
31	chr19:45655294-45655344	HMEC	breast:	n/a
32	chr19:45655294-45655344	K562	blood:	n/a
33	chr19:45655294-45655344	GM12892	blood:	n/a
34	chr19:45655294-45655344	SAEC	small airway:	n/a
35	chr19:45655294-45655344	NHDF-neo	bronchial:	n/a
36	chr19:45655294-45655344	GM12878	blood:	n/a
37	chr19:45655294-45655344	NH-A	brain:	n/a
38	chr19:45655294-45655344	PFSK-1	brain:	n/a
39	chr19:45655294-45655344	HEK293	kidney:	embryo
40	chr19:45655294-45655344	AG10803	skin:	n/a
41	chr19:45655294-45655344	IMR90	lung:	fetal
42	chr19:45655294-45655344	BJ	skin:	n/a
43	chr19:45655294-45655344	ovcar-3	ovarian:	n/a
44	chr19:45655294-45655344	RPTEC	kidney:	n/a
45	chr19:45655294-45655344	Jurkat	blood:	n/a
46	chr19:45655294-45655344	CMK	blood:	n/a
47	chr19:45655294-45655344	Hepatocyte	liver:	n/a
48	chr19:45655294-45655344	HCF	heart:	n/a
49	chr19:45655294-45655344	HL-60	blood:	n/a
50	chr19:45655294-45655344	BE2_C	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45655086..45657605-chr19:45680853..45682730,2	MCF-7	breast:
2	chr19:45654421..45658397-chr19:45679888..45682724,3	K562	blood:
3	chr19:45640971..45644367-chr19:45655076..45659170,3	K562	blood:
4	chr19:45654179..45655741-chr19:45656257..45658728,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267037	TF binding region
ENSG00000267037	CpG island
ENSG00000104866	Chromatin interaction
ENSG00000179846	Chromatin interaction
ENSG00000189114	Chromatin interaction
ENSG00000007255	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10401157	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10401823	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10405086	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10416500	0.90[ASN][1000 genomes]
rs10420562	0.95[ASN][1000 genomes]
rs10425074	0.92[ASN][1000 genomes]
rs1048699	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1114831	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1114832	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12459074	0.92[ASN][1000 genomes]
rs12462040	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17643262	1.00[EUR][1000 genomes]
rs2004357	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2041262	0.90[ASN][1000 genomes]
rs28620490	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34545713	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3925162	0.92[ASN][1000 genomes]
rs57565080	0.87[ASN][1000 genomes]
rs7248421	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs754366	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833842	chr19:45593888-45684308	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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	33 gene(s)	inside rSNPs	diseases
3	nsv833843	chr19:45593888-45793682	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv912143	chr19:45624303-45767214	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv3403042	chr19:45626786-45874859	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv912144	chr19:45636319-45687446	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv522341	chr19:45640124-45664218	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv1795888	chr19:45650386-45681988	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	esv3347313	chr19:45654737-45657285	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45627600-45655600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:45639800-45656800	Weak transcription	K562	blood
3	chr19:45642000-45655400	Weak transcription	Right Atrium	heart
4	chr19:45647000-45655400	Weak transcription	Left Ventricle	heart
5	chr19:45650000-45655400	Weak transcription	Liver	Liver
6	chr19:45650000-45655800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:45650200-45655600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:45650800-45655400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:45650800-45655400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr19:45650800-45656800	Weak transcription	Dnd41	blood
11	chr19:45651800-45660200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:45653000-45655600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:45653800-45655400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
14	chr19:45653800-45655400	Enhancers	HepG2	liver
15	chr19:45654000-45655400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr19:45654000-45655600	Enhancers	HMEC	breast
17	chr19:45654000-45656000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr19:45654200-45656000	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr19:45654400-45655600	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr19:45654400-45655600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
21	chr19:45654600-45655800	Enhancers	Gastric	stomach
22	chr19:45654600-45657200	Bivalent Enhancer	Fetal Intestine Small	intestine
23	chr19:45654600-45658000	Bivalent Enhancer	Placenta	Placenta
24	chr19:45654800-45655400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr19:45654800-45655600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:45654800-45655600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:45654800-45655600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
28	chr19:45654800-45655800	Bivalent Enhancer	Spleen	Spleen
29	chr19:45654800-45656000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr19:45654800-45656000	Enhancers	Pancreas	Pancrea
31	chr19:45654800-45656200	Weak transcription	A549	lung
32	chr19:45654800-45656400	Bivalent Enhancer	Lung	lung
33	chr19:45654800-45657200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr19:45654800-45657200	Weak transcription	Hela-S3	cervix
35	chr19:45654800-45657400	Bivalent Enhancer	Fetal Brain Male	brain
36	chr19:45654800-45660400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:45655000-45655400	Enhancers	Primary T cells from cord blood	blood
38	chr19:45655000-45655400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:45655000-45655400	Bivalent Enhancer	Colonic Mucosa	Colon
40	chr19:45655000-45655400	Bivalent Enhancer	Thymus	Thymus
41	chr19:45655000-45655600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr19:45655000-45655600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr19:45655000-45655600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
44	chr19:45655000-45655600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:45655000-45655600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
46	chr19:45655000-45655800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr19:45655000-45655800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr19:45655000-45655800	Bivalent Enhancer	Fetal Stomach	stomach
49	chr19:45655000-45656000	Bivalent Enhancer	Esophagus	oesophagus
50	chr19:45655000-45656000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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