Variant report

Variant	rs13347017
Chromosome Location	chr19:42570184-42570185
allele	A/C
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	MXI1	chr19:42570072-42570780	SK-N-SH	brain:	n/a	n/a
2	ELF1	chr19:42570148-42570570	GM12878	blood:	n/a	chr19:42570315-42570328 chr19:42570317-42570328
3	RFX5	chr19:42570009-42570816	K562	blood:	n/a	chr19:42570370-42570386 chr19:42570408-42570422 chr19:42570409-42570425 chr19:42570371-42570384 chr19:42570410-42570424 chr19:42570371-42570385 chr19:42570407-42570422 chr19:42570411-42570420
4	ELF1	chr19:42569822-42570517	GM12878	blood:	n/a	chr19:42570315-42570328 chr19:42570317-42570328
5	RFX5	chr19:42570140-42570572	HepG2	liver:	n/a	chr19:42570370-42570386 chr19:42570408-42570422 chr19:42570409-42570425 chr19:42570371-42570384 chr19:42570410-42570424 chr19:42570371-42570385 chr19:42570407-42570422 chr19:42570411-42570420
6	RFX5	chr19:42570180-42570563	Hela-S3	cervix:	n/a	chr19:42570370-42570386 chr19:42570408-42570422 chr19:42570409-42570425 chr19:42570371-42570384 chr19:42570410-42570424 chr19:42570371-42570385 chr19:42570407-42570422 chr19:42570411-42570420
7	RCOR1	chr19:42570097-42570664	K562	blood:	n/a	n/a
8	ELF1	chr19:42570071-42570549	K562	blood:	n/a	chr19:42570315-42570328 chr19:42570317-42570328
9	ELF1	chr19:42569999-42570663	MCF-7	breast:	n/a	chr19:42570315-42570328 chr19:42570317-42570328
10	RFX5	chr19:42570183-42570547	GM12878	blood:	n/a	chr19:42570370-42570386 chr19:42570408-42570422 chr19:42570409-42570425 chr19:42570371-42570384 chr19:42570410-42570424 chr19:42570371-42570385 chr19:42570407-42570422 chr19:42570411-42570420
11	ELF1	chr19:42570045-42570587	K562	blood:	n/a	chr19:42570315-42570328 chr19:42570317-42570328
12	RFX5	chr19:42570012-42570601	H1-hESC	embryonic stem cell:	n/a	chr19:42570370-42570386 chr19:42570408-42570422 chr19:42570409-42570425 chr19:42570371-42570384 chr19:42570410-42570424 chr19:42570371-42570385 chr19:42570407-42570422 chr19:42570411-42570420
13	ELF1	chr19:42570052-42570558	MCF-7	breast:	n/a	chr19:42570315-42570328 chr19:42570317-42570328
14	RFX5	chr19:42569999-42571047	IMR90	lung:	n/a	chr19:42570370-42570386 chr19:42570408-42570422 chr19:42570409-42570425 chr19:42570371-42570384 chr19:42570410-42570424 chr19:42570371-42570385 chr19:42570407-42570422 chr19:42570411-42570420
15	RFX5	chr19:42569624-42570950	SK-N-SH	brain:	n/a	chr19:42570370-42570386 chr19:42570408-42570422 chr19:42570409-42570425 chr19:42570371-42570384 chr19:42570410-42570424 chr19:42570371-42570385 chr19:42570407-42570422 chr19:42570411-42570420

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42568861..42574784-chr19:42577207..42582012,11	K562	blood:
2	chr19:42569439..42573430-chr19:42574335..42577066,3	K562	blood:

Variant related genes	Relation type
GRIK5	TF binding region
ZNF574	TF binding region
ENSG00000105732	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10413896	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10414151	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42539400-42570200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:42539400-42572200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:42540400-42572600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:42552200-42570200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr19:42552600-42570200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:42552800-42571000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:42553000-42570200	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr19:42553000-42570200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr19:42553200-42570200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:42553400-42570400	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr19:42553800-42571600	Weak transcription	Spleen	Spleen
12	chr19:42553800-42573200	Weak transcription	Pancreas	Pancrea
13	chr19:42553800-42573200	Weak transcription	Right Atrium	heart
14	chr19:42554400-42570200	Strong transcription	Fetal Stomach	stomach
15	chr19:42555000-42570200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr19:42555400-42570200	Strong transcription	Stomach Smooth Muscle	stomach
17	chr19:42555600-42570200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr19:42556800-42570800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:42557800-42579200	Weak transcription	Gastric	stomach
20	chr19:42558000-42571600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr19:42559400-42572600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:42559600-42572600	Weak transcription	Fetal Kidney	kidney
23	chr19:42561600-42571800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:42563200-42570200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr19:42564000-42570800	Weak transcription	Fetal Muscle Leg	muscle
26	chr19:42565800-42570200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr19:42565800-42570200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr19:42567400-42570600	Weak transcription	Brain Substantia Nigra	brain
29	chr19:42568400-42571000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:42568600-42572600	Enhancers	Fetal Brain Male	brain
31	chr19:42569000-42570400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:42569000-42570800	Weak transcription	Brain Anterior Caudate	brain
33	chr19:42569200-42572400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr19:42569200-42572600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:42569400-42570200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:42569400-42572000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr19:42569400-42572200	Weak transcription	Colon Smooth Muscle	Colon
38	chr19:42569600-42571200	Weak transcription	Brain Angular Gyrus	brain
39	chr19:42569800-42570200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:42569800-42570200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
41	chr19:42569800-42572800	Weak transcription	Aorta	Aorta
42	chr19:42570000-42570200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
43	chr19:42570000-42570200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:42570000-42570400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr19:42570000-42570400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr19:42570000-42570400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr19:42570000-42570400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
48	chr19:42570000-42570600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:42570000-42570600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr19:42570000-42571000	Enhancers	Brain Cingulate Gyrus	brain

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