Variant report

Variant	rs2619203
Chromosome Location	chr19:36288942-36288943
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	MAX	chr19:36288444-36289048	HepG2	liver:	n/a	chr19:36288593-36288603
2	MAX	chr19:36288533-36288968	K562	blood:	n/a	chr19:36288593-36288603
3	MBD4	chr19:36288581-36289111	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:36286938-36290198	HepG2	liver:	n/a	n/a
5	FOSL2	chr19:36288381-36289108	HepG2	liver:	n/a	n/a
6	CEBPD	chr19:36288637-36289008	HepG2	liver:	n/a	n/a
7	E2F6	chr19:36288560-36288965	K562	blood:	n/a	chr19:36288756-36288767 chr19:36288799-36288808
8	YY1	chr19:36288557-36288988	HepG2	liver:	n/a	n/a
9	HEY1	chr19:36288593-36288992	HepG2	liver:	n/a	n/a
10	E2F6	chr19:36288049-36289180	H1-hESC	embryonic stem cell:	n/a	chr19:36288756-36288767 chr19:36288799-36288808
11	POLR2A	chr19:36288194-36289058	HepG2	liver:	n/a	n/a
12	MAX	chr19:36288438-36289050	H1-hESC	embryonic stem cell:	n/a	chr19:36288593-36288603
13	E2F6	chr19:36288237-36289063	H1-hESC	embryonic stem cell:	n/a	chr19:36288756-36288767 chr19:36288799-36288808
14	POLR2A	chr19:36287378-36289068	HepG2	liver:	n/a	n/a
15	CREB1	chr19:36288474-36289173	HepG2	liver:	n/a	n/a
16	POLR2A	chr19:36288711-36288971	HepG2	liver:	n/a	n/a
17	POLR2A	chr19:36288334-36288974	HepG2	liver:	n/a	n/a
18	MAX	chr19:36288569-36288959	H1-hESC	embryonic stem cell:	n/a	chr19:36288593-36288603
19	NFIC	chr19:36288611-36289040	HepG2	liver:	n/a	n/a
20	MAX	chr19:36288445-36289057	H1-hESC	embryonic stem cell:	n/a	chr19:36288593-36288603
21	POLR2A	chr19:36288571-36289133	HepG2	liver:	n/a	n/a
22	POLR2A	chr19:36288536-36289542	HepG2	liver:	n/a	n/a
23	MAX	chr19:36288495-36289056	HepG2	liver:	n/a	chr19:36288593-36288603

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36266545..36269722-chr19:36286322..36289805,3	K562	blood:
2	chr19:36288840..36290820-chr19:36294130..36297003,2	K562	blood:

Variant related genes	Relation type
ENSG00000225872	TF binding region
ENSG00000004777	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs231587	1.00[YRI][hapmap]
rs2619202	1.00[AMR][1000 genomes]
rs638087	0.83[AFR][1000 genomes]
rs7260321	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv911636	chr19:36240960-36290977	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv911637	chr19:36261928-36309321	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	esv3446624	chr19:36282645-36318788	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36278400-36294400	Weak transcription	Spleen	Spleen
2	chr19:36283400-36303000	Weak transcription	Pancreas	Pancrea
3	chr19:36287600-36289000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr19:36287800-36289000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
5	chr19:36287800-36289000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:36287800-36289000	Bivalent Enhancer	Placenta	Placenta
7	chr19:36288000-36289000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:36288000-36289000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:36288000-36289000	Active TSS	Brain Angular Gyrus	brain
10	chr19:36288200-36289000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
11	chr19:36288200-36289000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
12	chr19:36288200-36289000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:36288400-36289000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:36288400-36289000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:36288400-36289000	Bivalent Enhancer	Fetal Stomach	stomach
16	chr19:36288400-36289200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
17	chr19:36288600-36289000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:36288600-36289000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:36288600-36289000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
20	chr19:36288600-36289000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr19:36288600-36289000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
22	chr19:36288600-36289000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
23	chr19:36288600-36289000	Enhancers	Liver	Liver
24	chr19:36288600-36289000	Enhancers	Esophagus	oesophagus
25	chr19:36288600-36289000	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
26	chr19:36288600-36289000	Bivalent Enhancer	Left Ventricle	heart
27	chr19:36288600-36289000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
28	chr19:36288600-36289000	Flanking Active TSS	HepG2	liver
29	chr19:36288600-36289000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
30	chr19:36288800-36289000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr19:36288800-36289000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
32	chr19:36288800-36289000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:36288800-36289000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
34	chr19:36288800-36289000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:36288800-36289000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr19:36288800-36289000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
37	chr19:36288800-36289000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr19:36288800-36289000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:36288800-36289000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:36288800-36289000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:36288800-36289000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:36288800-36289000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:36288800-36289000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:36288800-36289000	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr19:36288800-36289000	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr19:36288800-36289000	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr19:36288800-36289000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
48	chr19:36288800-36289000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
49	chr19:36288800-36289000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr19:36288800-36289000	Flanking Active TSS	Fetal Brain Female	brain

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