Variant report

Variant	rs584007
Chromosome Location	chr19:45416478-45416479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:45416046-45417051	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOSL2	chr19:45415985-45416556	HepG2	liver:	n/a	n/a
3	NFIC	chr19:45416120-45416479	HepG2	liver:	n/a	n/a
4	SP1	chr19:45415959-45416578	HepG2	liver:	n/a	chr19:45416406-45416419
5	TEAD4	chr19:45416001-45416487	HepG2	liver:	n/a	n/a
6	JUND	chr19:45416018-45416495	HepG2	liver:	n/a	n/a
7	FOSL2	chr19:45416057-45416520	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:45416112-45416583	HepG2	liver:	n/a	n/a
9	RXRA	chr19:45415983-45416659	HepG2	liver:	n/a	n/a
10	MYBL2	chr19:45416004-45417206	HepG2	liver:	n/a	n/a
11	MAX	chr19:45416016-45416579	HepG2	liver:	n/a	chr19:45416279-45416288 chr19:45416277-45416290 chr19:45416280-45416289 chr19:45416278-45416289 chr19:45416278-45416289
12	HDAC2	chr19:45416075-45416535	HepG2	liver:	n/a	n/a
13	YY1	chr19:45416059-45416514	HepG2	liver:	n/a	n/a
14	POLR2A	chr19:45416047-45416568	HepG2	liver:	n/a	n/a
15	HEY1	chr19:45415968-45416665	HepG2	liver:	n/a	n/a
16	MYC	chr19:45416032-45416483	HepG2	liver:	n/a	chr19:45416279-45416288 chr19:45416277-45416290 chr19:45416280-45416289 chr19:45416278-45416289 chr19:45416278-45416289
17	RAD21	chr19:45416175-45416480	HepG2	liver:	n/a	chr19:45416345-45416359 chr19:45416347-45416360
18	GATA1	chr19:45416103-45417972	PBDE	blood:	n/a	n/a
19	RXRA	chr19:45416036-45416557	HepG2	liver:	n/a	n/a
20	POLR2A	chr19:45415946-45416511	HepG2	liver:	n/a	n/a
21	POLR2A	chr19:45416076-45416492	HepG2	liver:	n/a	n/a
22	NFIC	chr19:45416128-45416559	HepG2	liver:	n/a	n/a
23	POLR2A	chr19:45416466-45418561	K562	blood:	n/a	n/a
24	MYBL2	chr19:45415997-45416503	HepG2	liver:	n/a	n/a
25	HEY1	chr19:45416044-45416660	HepG2	liver:	n/a	n/a
26	EP300	chr19:45415960-45416552	HepG2	liver:	n/a	chr19:45416208-45416222
27	POLR2A	chr19:45415885-45416607	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45414650..45417775-chr19:45455378..45459435,4	K562	blood:
2	chr19:45415569..45417963-chr19:45443014..45445506,2	K562	blood:
3	chr19:45347815..45349366-chr19:45415234..45417056,2	K562	blood:
4	chr19:45416225..45418303-chr19:45596248..45598636,2	K562	blood:

Variant related genes	Relation type
APOC1	TF binding region
ENSG00000267114	Chromatin interaction
ENSG00000104853	Chromatin interaction
ENSG00000104866	Chromatin interaction
ENSG00000267467	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs157580	0.91[YRI][hapmap]
rs157590	0.88[LWK][hapmap];0.91[YRI][hapmap]
rs157595	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3826688	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs405697	0.86[CHB][hapmap];0.82[YRI][hapmap]
rs439401	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs440446	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs484195	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45410000-45417400	Weak transcription	Fetal Heart	heart
2	chr19:45410000-45417400	Weak transcription	Pancreas	Pancrea
3	chr19:45410200-45417400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:45412000-45416800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr19:45412600-45417400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr19:45412600-45418000	Enhancers	Fetal Muscle Leg	muscle
7	chr19:45412800-45417400	Enhancers	Fetal Muscle Trunk	muscle
8	chr19:45412800-45417600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:45413000-45417400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:45413200-45416800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr19:45413200-45417400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:45413400-45416600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:45413400-45417600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr19:45414000-45416800	Enhancers	K562	blood
15	chr19:45414000-45417400	Enhancers	Placenta	Placenta
16	chr19:45414200-45416600	Enhancers	Ovary	ovary
17	chr19:45414200-45416600	Enhancers	HSMM	muscle
18	chr19:45414200-45416800	Enhancers	Fetal Lung	lung
19	chr19:45414200-45417400	Enhancers	Brain Angular Gyrus	brain
20	chr19:45414200-45417400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr19:45414200-45417600	Enhancers	Brain Cingulate Gyrus	brain
22	chr19:45414200-45417600	Enhancers	Brain Substantia Nigra	brain
23	chr19:45414200-45417600	Enhancers	Fetal Stomach	stomach
24	chr19:45414200-45418000	Enhancers	Spleen	Spleen
25	chr19:45414400-45416600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:45414400-45417400	Weak transcription	Fetal Brain Male	brain
27	chr19:45414600-45417400	Enhancers	Brain Hippocampus Middle	brain
28	chr19:45414600-45417400	Weak transcription	Fetal Brain Female	brain
29	chr19:45414600-45417400	Weak transcription	Lung	lung
30	chr19:45414600-45417600	Enhancers	Adipose Nuclei	Adipose
31	chr19:45414800-45416800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:45414800-45417200	Weak transcription	Colonic Mucosa	Colon
33	chr19:45414800-45417400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr19:45414800-45417400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:45414800-45417400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:45414800-45417400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr19:45414800-45417600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr19:45414800-45417600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:45414800-45417800	Weak transcription	Esophagus	oesophagus
40	chr19:45414800-45417800	Weak transcription	Gastric	stomach
41	chr19:45414800-45417800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr19:45414800-45417800	Weak transcription	HUVEC	blood vessel
43	chr19:45414800-45418000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:45414800-45418000	Weak transcription	Right Atrium	heart
45	chr19:45415000-45416600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr19:45415000-45417400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr19:45415000-45417400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:45415000-45417400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr19:45415000-45417400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr19:45415000-45417400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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