Variant report

Variant	rs9282609
Chromosome Location	chr19:45409113-45409114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:108)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:108 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MBD4	chr19:45408539-45409201	HepG2	liver:	n/a	n/a
2	USF1	chr19:45408823-45409126	K562	blood:	n/a	chr19:45408954-45408965
3	POLR2A	chr19:45408658-45409936	MCF10A-Er-Src	breast:	n/a	n/a
4	TAF7	chr19:45408597-45409357	H1-hESC	embryonic stem cell:	n/a	n/a
5	JUND	chr19:45408502-45409434	A549	lung:	n/a	n/a
6	POLR2A	chr19:45408583-45410078	HepG2	liver:	n/a	n/a
7	TBP	chr19:45408717-45409221	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:45408657-45409408	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr19:45408742-45409184	HepG2	liver:	n/a	n/a
10	RAD21	chr19:45408643-45409223	HepG2	liver:	n/a	n/a
11	BCL3	chr19:45408498-45409477	A549	lung:	n/a	n/a
12	POLR2A	chr19:45405203-45410051	K562	blood:	n/a	n/a
13	POLR2A	chr19:45408575-45409333	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr19:45405561-45409156	PFSK-1	brain:	n/a	n/a
15	ZBTB7A	chr19:45408604-45409313	K562	blood:	n/a	n/a
16	USF2	chr19:45408749-45409300	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr19:45409094-45409533	MCF10A-Er-Src	breast:	n/a	n/a
18	SIN3AK20	chr19:45408787-45409598	H1-hESC	embryonic stem cell:	n/a	n/a
19	TAF1	chr19:45408871-45409852	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr19:45408619-45409841	H1-hESC	embryonic stem cell:	n/a	n/a
21	HEY1	chr19:45408591-45410011	HepG2	liver:	n/a	n/a
22	TCF12	chr19:45408900-45409491	ECC-1	luminal epithelium:	n/a	chr19:45409313-45409323
23	POLR2A	chr19:45408631-45409426	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr19:45405620-45409311	SK-N-MC	brain:	n/a	n/a
25	YY1	chr19:45408613-45409275	HepG2	liver:	n/a	n/a
26	NFIC	chr19:45408618-45409247	HepG2	liver:	n/a	n/a
27	MAZ	chr19:45408701-45410021	HepG2	liver:	n/a	chr19:45408998-45409008
28	SP4	chr19:45408691-45409262	H1-hESC	embryonic stem cell:	n/a	chr19:45408897-45408908 chr19:45408995-45409011
29	MAX	chr19:45408693-45409204	H1-hESC	embryonic stem cell:	n/a	chr19:45408998-45409008
30	JUND	chr19:45408752-45409194	HepG2	liver:	n/a	n/a
31	CEBPD	chr19:45408488-45409282	HepG2	liver:	n/a	n/a
32	USF1	chr19:45408793-45409217	H1-hESC	embryonic stem cell:	n/a	chr19:45408954-45408965
33	POLR2A	chr19:45408620-45409358	HepG2	liver:	n/a	n/a
34	POLR2A	chr19:45408580-45409462	K562	blood:	n/a	n/a
35	HDAC2	chr19:45408542-45409233	HepG2	liver:	n/a	n/a
36	POLR2A	chr19:45405893-45410103	K562	blood:	n/a	n/a
37	POLR2A	chr19:45408600-45410159	H1-hESC	embryonic stem cell:	n/a	n/a
38	HEY1	chr19:45408944-45409205	K562	blood:	n/a	n/a
39	POLR2A	chr19:45408735-45409692	HepG2	liver:	n/a	n/a
40	TAF1	chr19:45408710-45409306	HepG2	liver:	n/a	n/a
41	CHD2	chr19:45408643-45410079	K562	blood:	n/a	n/a
42	YY1	chr19:45408666-45409316	H1-hESC	embryonic stem cell:	n/a	n/a
43	GTF2F1	chr19:45408890-45409143	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr19:45408490-45409474	ECC-1	luminal epithelium:	n/a	n/a
45	CREB1	chr19:45408549-45410213	HepG2	liver:	n/a	n/a
46	POLR2A	chr19:45409082-45409518	GM12891	blood:	n/a	n/a
47	BHLHE40	chr19:45408813-45409259	K562	blood:	n/a	n/a
48	MYBL2	chr19:45408611-45409319	HepG2	liver:	n/a	n/a
49	POLR2A	chr19:45408502-45409591	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPD	chr19:45408881-45409170	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45409080-45409130	BE2_C	brain:	n/a
2	chr19:45409080-45409130	HAEpiC	amniotic membrane:	n/a
3	chr19:45409080-45409130	GM12892	blood:	n/a
4	chr19:45409080-45409130	SAEC	small airway:	n/a
5	chr19:45409080-45409130	Caco-2	colon:	n/a
6	chr19:45409080-45409130	HCPEpiC	choroid plexus:	n/a
7	chr19:45409080-45409130	HPAEpiC	pulmonary alveolar:	n/a
8	chr19:45409080-45409130	HCT-116	colon:	n/a
9	chr19:45409080-45409130	HUVEC	blood vessel:	n/a
10	chr19:45409080-45409130	NHBE	bronchial:	n/a
11	chr19:45409080-45409130	K562	blood:	n/a
12	chr19:45409080-45409130	HRCEpiC	kidney:	n/a
13	chr19:45409080-45409130	HEK293	kidney:	embryo
14	chr19:45409080-45409130	HEEpiC	esophagus:	n/a
15	chr19:45409080-45409130	BJ	skin:	n/a
16	chr19:45409080-45409130	Jurkat	blood:	n/a
17	chr19:45409080-45409130	NHDF-neo	bronchial:	n/a
18	chr19:45409080-45409130	HRE	kidney:	n/a
19	chr19:45409080-45409130	T-47D	breast:	n/a
20	chr19:45409080-45409130	SK-N-SH	brain:	n/a
21	chr19:45409080-45409130	LNCaP	prostate:	n/a
22	chr19:45409080-45409130	HCF	heart:	n/a
23	chr19:45409080-45409130	AG04449	skin:	fetal
24	chr19:45409080-45409130	HRPEpiC	eye:	n/a
25	chr19:45409080-45409130	NT2-D1	testis:	n/a
26	chr19:45409080-45409130	ProgFib	skin:	n/a
27	chr19:45409080-45409130	HL-60	blood:	n/a
28	chr19:45409080-45409130	AG09309	skin:	n/a
29	chr19:45409080-45409130	HCM	heart:	n/a
30	chr19:45409080-45409130	PrEC	prostate:	n/a
31	chr19:45409080-45409130	NH-A	brain:	n/a
32	chr19:45409080-45409130	U87	brain:	n/a
33	chr19:45409080-45409130	MCF10A-Er-Src	breast:	n/a
34	chr19:45409080-45409130	GM12891	blood:	n/a
35	chr19:45409080-45409130	AG09319	gingival:	n/a
36	chr19:45409080-45409130	H1-hESC	embryonic stem cell:	embryo
37	chr19:45409080-45409130	SKMC	muscle:	n/a
38	chr19:45409080-45409130	AoSMC	blood vessel:	n/a
39	chr19:45409080-45409130	HMEC	breast:	n/a
40	chr19:45409080-45409130	GM19239	blood:	n/a
41	chr19:45409080-45409130	RPTEC	kidney:	n/a
42	chr19:45409080-45409130	PFSK-1	brain:	n/a
43	chr19:45409080-45409130	ECC-1	luminal epithelium:	n/a
44	chr19:45409080-45409130	NB4	blood:	n/a
45	chr19:45409080-45409130	SK-N-MC	brain:	n/a
46	chr19:45409080-45409130	IMR90	lung:	fetal
47	chr19:45409080-45409130	HNPCEpiC	eye:	n/a
48	chr19:45409080-45409130	GM06990	blood:	n/a
49	chr19:45409080-45409130	ovcar-3	ovarian:	n/a
50	chr19:45409080-45409130	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:45408654..45411235-chr19:45491614..45494162,2	MCF-7	breast:
2	chr19:45407734..45410496-chr19:45474972..45477815,2	K562	blood:
3	chr19:45406430..45412448-chr19:45445993..45451546,6	K562	blood:
4	chr19:45407631..45409490-chr19:45429198..45431974,3	K562	blood:
5	chr19:45408290..45410344-chr19:45572852..45575175,2	K562	blood:
6	chr19:45407631..45409490-chr19:45429549..45431974,2	K562	blood:
7	chr19:45407367..45409189-chr19:45457819..45459866,2	K562	blood:
8	chr19:45405563..45412018-chr19:45456830..45459683,7	MCF-7	breast:
9	chr19:45396519..45400631-chr19:45405107..45409651,5	MCF-7	breast:

No data

Variant related genes	Relation type
APOE	TF binding region
APOE	CpG island
ENSG00000104853	Chromatin interaction
ENSG00000104859	Chromatin interaction
ENSG00000130204	Chromatin interaction
ENSG00000267114	Chromatin interaction
ENSG00000234906	Chromatin interaction
ENSG00000214855	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs394819	1.00[MEX][hapmap]
rs5164	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912129	chr19:45379791-45448465	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv912130	chr19:45382034-45448465	Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv912131	chr19:45391582-45415640	Flanking Active TSS Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv912132	chr19:45393473-45415640	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv912133	chr19:45395619-45482884	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv912134	chr19:45395619-45528799	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv912135	chr19:45408312-45415640	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv912136	chr19:45408836-45413874	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv912137	chr19:45408836-45415640	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv912138	chr19:45409113-45415640	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45400400-45414200	Weak transcription	Hela-S3	cervix
2	chr19:45406200-45409200	Weak transcription	HSMMtube	muscle
3	chr19:45406800-45409200	Weak transcription	Gastric	stomach
4	chr19:45406800-45409600	Weak transcription	Dnd41	blood
5	chr19:45406800-45414200	Weak transcription	Lung	lung
6	chr19:45407400-45409200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:45407600-45409400	Weak transcription	GM12878-XiMat	blood
8	chr19:45407800-45410400	Enhancers	Spleen	Spleen
9	chr19:45408000-45410400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr19:45408200-45409200	Weak transcription	Pancreas	Pancrea
11	chr19:45408200-45410000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr19:45408400-45409800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:45408400-45410200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr19:45408600-45409200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:45408600-45409200	Enhancers	Primary hematopoietic stem cells	blood
16	chr19:45408600-45409200	Active TSS	Brain Anterior Caudate	brain
17	chr19:45408600-45409200	Enhancers	Fetal Lung	lung
18	chr19:45408600-45409200	Active TSS	HepG2	liver
19	chr19:45408600-45409800	Active TSS	Liver	Liver
20	chr19:45408600-45409800	Active TSS	Ovary	ovary
21	chr19:45408600-45410000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr19:45408600-45410000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:45408600-45410000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr19:45408600-45410000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
25	chr19:45408600-45410200	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr19:45408600-45410200	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr19:45408600-45410200	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr19:45408600-45410200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:45408600-45410200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:45408600-45410200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
31	chr19:45408600-45410400	Active TSS	H9 Cell Line	embryonic stem cell
32	chr19:45408600-45410400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr19:45408600-45410400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:45408800-45409200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:45408800-45409200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:45408800-45409200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
37	chr19:45408800-45409200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:45408800-45409200	Enhancers	Fetal Heart	heart
39	chr19:45408800-45409200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
40	chr19:45408800-45409200	Enhancers	Left Ventricle	heart
41	chr19:45408800-45409200	Active TSS	HMEC	breast
42	chr19:45408800-45409200	Bivalent Enhancer	NHEK	skin
43	chr19:45408800-45409200	Bivalent Enhancer	NHLF	lung
44	chr19:45408800-45409400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:45408800-45409400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:45408800-45409400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:45408800-45409600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:45408800-45409600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:45408800-45409600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
50	chr19:45408800-45409600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine

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