Variant report

Variant	rs2545763
Chromosome Location	chr19:41307170-41307171
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41307091-41307568	H1-hESC	embryonic stem cell:	n/a	n/a
2	HMGN3	chr19:41306832-41307365	K562	blood:	n/a	n/a
3	POLR2A	chr19:41307134-41307359	GM12891	blood:	n/a	n/a
4	POLR2A	chr19:41306203-41307567	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:41306995-41307523	GM12891	blood:	n/a	n/a
6	POLR2A	chr19:41306285-41307414	A549	lung:	n/a	n/a
7	POLR2A	chr19:41307150-41307458	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr19:41307110-41307292	MCF-7	breast:	n/a	n/a
9	POLR2A	chr19:41306663-41307516	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr19:41306228-41307418	A549	lung:	n/a	n/a
11	POLR2A	chr19:41306836-41307413	A549	lung:	n/a	n/a
12	POLR2A	chr19:41307117-41318353	K562	blood:	n/a	n/a
13	POLR2A	chr19:41306947-41307481	HepG2	liver:	n/a	n/a
14	POLR2A	chr19:41307081-41307560	K562	blood:	n/a	n/a
15	POLR2A	chr19:41307164-41307576	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr19:41306606-41307572	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr19:41306661-41307561	GM12892	blood:	n/a	n/a
18	POLR2A	chr19:41307110-41307221	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr19:41307163-41307219	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr19:41306747-41307563	K562	blood:	n/a	n/a
21	POLR2A	chr19:41306886-41307440	A549	lung:	n/a	n/a
22	POLR2A	chr19:41306987-41307198	HepG2	liver:	n/a	n/a
23	POLR2A	chr19:41306563-41307452	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr19:41306258-41307472	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:41307085-41307640	GM12878	blood:	n/a	n/a
26	POLR2A	chr19:41306217-41307539	H1-hESC	embryonic stem cell:	n/a	n/a
27	HEY1	chr19:41306984-41307547	K562	blood:	n/a	n/a
28	POLR2A	chr19:41306815-41307327	A549	lung:	n/a	n/a
29	POLR2A	chr19:41306812-41307566	K562	blood:	n/a	n/a
30	POLR2A	chr19:41305790-41307509	HL-60	blood:	n/a	n/a
31	POLR2A	chr19:41307066-41307572	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr19:41306243-41307476	GM12878	blood:	n/a	n/a
33	CCNT2	chr19:41306741-41307297	K562	blood:	n/a	n/a
34	POLR2A	chr19:41306709-41307567	GM12892	blood:	n/a	n/a
35	POLR2A	chr19:41306124-41307527	K562	blood:	n/a	n/a
36	MAX	chr19:41307154-41307381	K562	blood:	n/a	n/a
37	POLR2A	chr19:41307045-41307382	GM12891	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41307140-41307190	Caco-2	colon:	n/a
2	chr19:41307140-41307190	LNCaP	prostate:	n/a
3	chr19:41307140-41307190	K562	blood:	n/a
4	chr19:41307140-41307190	GM12878	blood:	n/a
5	chr19:41307140-41307190	HCPEpiC	choroid plexus:	n/a
6	chr19:41307140-41307190	GM19239	blood:	n/a
7	chr19:41307140-41307190	PFSK-1	brain:	n/a
8	chr19:41307140-41307190	MCF10A-Er-Src	breast:	n/a
9	chr19:41307140-41307190	HEK293	kidney:	embryo
10	chr19:41307140-41307190	HIPEpiC	eye:	n/a
11	chr19:41307140-41307190	GM06990	blood:	n/a
12	chr19:41307140-41307190	IMR90	lung:	fetal
13	chr19:41307140-41307190	HCM	heart:	n/a
14	chr19:41307140-41307190	AG10803	skin:	n/a
15	chr19:41307140-41307190	NT2-D1	testis:	n/a
16	chr19:41307140-41307190	SAEC	small airway:	n/a
17	chr19:41307140-41307190	HAEpiC	amniotic membrane:	n/a
18	chr19:41307140-41307190	HPAEpiC	pulmonary alveolar:	n/a
19	chr19:41307140-41307190	HCF	heart:	n/a
20	chr19:41307140-41307190	ECC-1	luminal epithelium:	n/a
21	chr19:41307140-41307190	HepG2	liver:	n/a
22	chr19:41307140-41307190	HNPCEpiC	eye:	n/a
23	chr19:41307140-41307190	HRPEpiC	eye:	n/a
24	chr19:41307140-41307190	ovcar-3	ovarian:	n/a
25	chr19:41307140-41307190	NHDF-neo	bronchial:	n/a
26	chr19:41307140-41307190	MCF-7	breast:	n/a
27	chr19:41307140-41307190	GM12891	blood:	n/a
28	chr19:41307140-41307190	AoSMC	blood vessel:	n/a
29	chr19:41307140-41307190	GM12892	blood:	n/a
30	chr19:41307140-41307190	AG04449	skin:	fetal
31	chr19:41307140-41307190	H1-hESC	embryonic stem cell:	embryo
32	chr19:41307140-41307190	AG09309	skin:	n/a
33	chr19:41307140-41307190	HMEC	breast:	n/a
34	chr19:41307140-41307190	NHBE	bronchial:	n/a
35	chr19:41307140-41307190	Hepatocyte	liver:	n/a
36	chr19:41307140-41307190	PrEC	prostate:	n/a
37	chr19:41307140-41307190	AG04450	lung:	fetal
38	chr19:41307140-41307190	BJ	skin:	n/a
39	chr19:41307140-41307190	HL-60	blood:	n/a
40	chr19:41307140-41307190	RPTEC	kidney:	n/a
41	chr19:41307140-41307190	HUVEC	blood vessel:	n/a
42	chr19:41307140-41307190	ProgFib	skin:	n/a
43	chr19:41307140-41307190	T-47D	breast:	n/a
44	chr19:41307140-41307190	Jurkat	blood:	n/a
45	chr19:41307140-41307190	Hela-S3	cervix:	n/a
46	chr19:41307140-41307190	SK-N-SH_RA	brain:	n/a
47	chr19:41307140-41307190	HRE	kidney:	n/a
48	chr19:41307140-41307190	SK-N-SH	brain:	n/a
49	chr19:41307140-41307190	SK-N-MC	brain:	n/a
50	chr19:41307140-41307190	BE2_C	brain:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41280731..41296556-chr19:41299561..41307605,30	MCF-7	breast:
2	chr19:41254487..41259247-chr19:41302579..41309995,18	K562	blood:
3	chr19:41266506..41270324-chr19:41304182..41308237,4	MCF-7	breast:
4	chr19:41281718..41286533-chr19:41301356..41311124,20	K562	blood:
5	chr19:41307021..41309215-chr19:41770332..41772001,2	MCF-7	breast:
6	chr19:41220369..41226479-chr19:41305318..41310706,7	K562	blood:
7	chr19:41253776..41259894-chr19:41301950..41310086,19	MCF-7	breast:
8	chr19:41220238..41223312-chr19:41303618..41307521,4	K562	blood:
9	chr19:41283422..41285801-chr19:41305183..41308009,2	MCF-7	breast:
10	chr19:41115624..41118176-chr19:41306706..41309360,2	MCF-7	breast:
11	chr19:41253887..41263110-chr19:41303366..41316425,33	K562	blood:
12	chr19:41220057..41225402-chr19:41302090..41307926,9	MCF-7	breast:
13	chr19:41223981..41226562-chr19:41304181..41307698,5	MCF-7	breast:

No data

Variant related genes	Relation type
EGLN2	TF binding region
ENSG00000268797	TF binding region
ENSG00000268797	CpG island
EGLN2	CpG island
ENSG00000167578	Chromatin interaction
ENSG00000077312	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000105323	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000090006	Chromatin interaction
ENSG00000261857	Chromatin interaction
ENSG00000171570	Chromatin interaction
ENSG00000086544	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10420685	0.85[GIH][hapmap]
rs13108	0.87[JPT][hapmap]
rs1455434	0.85[GIH][hapmap]
rs17726258	0.85[GIH][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1869710	0.85[GIH][hapmap]
rs2233154	0.87[JPT][hapmap]
rs2233156	0.85[GIH][hapmap];0.82[EUR][1000 genomes]
rs2233159	0.88[JPT][hapmap]
rs2249854	0.87[JPT][hapmap]
rs2254326	0.85[GIH][hapmap]
rs2303723	0.85[GIH][hapmap]
rs2545760	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2545761	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2545766	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2545771	1.00[CEU][hapmap];0.80[CHD][hapmap];0.85[GIH][hapmap];0.82[YRI][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2545772	1.00[CEU][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2545777	0.91[EUR][1000 genomes]
rs2545778	0.91[EUR][1000 genomes]
rs2561531	0.85[GIH][hapmap]
rs2604866	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.90[MKK][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2604868	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2604876	0.91[EUR][1000 genomes]
rs2604910	0.93[JPT][hapmap]
rs2607411	0.91[EUR][1000 genomes]
rs2607413	0.91[EUR][1000 genomes]
rs2607418	0.85[GIH][hapmap]
rs2607425	0.87[JPT][hapmap]
rs2607426	0.87[JPT][hapmap]
rs2644888	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2644915	0.92[ASN][1000 genomes]
rs2644917	0.91[EUR][1000 genomes]
rs56891752	0.91[EUR][1000 genomes]
rs60533951	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8107978	0.88[JPT][hapmap]
rs8109099	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41305800-41307600	Flanking Active TSS	HUVEC	blood vessel
2	chr19:41305800-41309000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:41305800-41316200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:41306000-41307200	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
5	chr19:41306000-41307400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:41306000-41307400	Flanking Active TSS	Brain Angular Gyrus	brain
7	chr19:41306000-41307400	Flanking Active TSS	NH-A	brain
8	chr19:41306000-41308400	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
9	chr19:41306000-41308800	Transcr. at gene 5' and 3'	A549	lung
10	chr19:41306000-41309000	Transcr. at gene 5' and 3'	Placenta	Placenta
11	chr19:41306000-41309200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:41306000-41309200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
13	chr19:41306000-41310400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
14	chr19:41306000-41311800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr19:41306200-41307200	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
16	chr19:41306200-41307400	Enhancers	Fetal Brain Male	brain
17	chr19:41306200-41307400	Flanking Active TSS	Ovary	ovary
18	chr19:41306200-41307400	Transcr. at gene 5' and 3'	Pancreas	Pancrea
19	chr19:41306200-41307400	Transcr. at gene 5' and 3'	Spleen	Spleen
20	chr19:41306200-41307400	Flanking Active TSS	HepG2	liver
21	chr19:41306200-41307800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr19:41306200-41308200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:41306200-41308400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:41306200-41308600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
25	chr19:41306200-41308800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:41306200-41308800	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
27	chr19:41306200-41309000	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:41306200-41309200	Transcr. at gene 5' and 3'	NHLF	lung
29	chr19:41306200-41309400	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
30	chr19:41306200-41309600	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
31	chr19:41306200-41309800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
32	chr19:41306200-41309800	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr19:41306200-41310200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:41306200-41311200	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
35	chr19:41306200-41313200	Enhancers	Fetal Heart	heart
36	chr19:41306400-41307200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
37	chr19:41306400-41307200	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
38	chr19:41306400-41307200	Transcr. at gene 5' and 3'	Lung	lung
39	chr19:41306400-41307200	Transcr. at gene 5' and 3'	Thymus	Thymus
40	chr19:41306400-41307400	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
41	chr19:41306400-41307400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:41306400-41307400	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
43	chr19:41306400-41307400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
44	chr19:41306400-41307400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
45	chr19:41306400-41307400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:41306400-41307400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
47	chr19:41306400-41307400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
48	chr19:41306400-41307400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
49	chr19:41306400-41307400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
50	chr19:41306400-41307800	Weak transcription	Fetal Kidney	kidney

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