Variant report

Variant	rs10405434
Chromosome Location	chr19:36707678-36707679
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36705012-36708000	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr19:36707543-36708110	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr19:36707508-36708093	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:36707394-36708239	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr19:36707206-36708042	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr19:36707652-36707988	K562	blood:	n/a	n/a
7	POLR2A	chr19:36707576-36707923	K562	blood:	n/a	n/a
8	POLR2A	chr19:36707584-36708128	GM12892	blood:	n/a	n/a
9	POLR2A	chr19:36707639-36707991	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr19:36707111-36708050	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr19:36707567-36708099	GM12892	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36705785..36707917-chr19:36719166..36721745,2	K562	blood:
2	chr19:36704317..36708058-chr19:36719298..36721271,3	MCF-7	breast:
3	chr19:36630738..36632299-chr19:36705733..36707758,2	MCF-7	breast:
4	chr19:36706883..36709067-chr19:36978381..36980309,2	K562	blood:
5	chr19:36706964..36709175-chr20:49993312..49995838,2	MCF-7	breast:
6	chr19:36629887..36633258-chr19:36704150..36708473,10	K562	blood:
7	chr19:36635772..36637555-chr19:36705789..36707718,2	K562	blood:

No data

Variant related genes	Relation type
ZNF565	TF binding region
ENSG00000126247	Chromatin interaction
ENSG00000167635	Chromatin interaction
ENSG00000263645	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10414444	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10414754	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10415692	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10418472	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10419778	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10419962	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10425424	1.00[AMR][1000 genomes]
rs11878240	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11882807	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs12104412	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13345802	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56214452	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57994318	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61326559	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612167	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36704600-36707800	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr19:36704600-36708000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:36704800-36707800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr19:36704800-36707800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:36704800-36708400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr19:36705000-36707800	Active TSS	HSMMtube	muscle
7	chr19:36705200-36708000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr19:36705200-36708200	Active TSS	K562	blood
9	chr19:36705400-36707800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:36706600-36707800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr19:36706800-36707800	Enhancers	Small Intestine	intestine
12	chr19:36706800-36708400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:36706800-36708400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:36706800-36708600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr19:36706800-36709800	Weak transcription	Lung	lung
16	chr19:36706800-36710800	Weak transcription	Esophagus	oesophagus
17	chr19:36706800-36716400	Weak transcription	Aorta	Aorta
18	chr19:36707000-36707800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr19:36707000-36707800	Enhancers	Liver	Liver
20	chr19:36707000-36707800	Enhancers	Brain Anterior Caudate	brain
21	chr19:36707000-36707800	Enhancers	Colon Smooth Muscle	Colon
22	chr19:36707000-36707800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr19:36707000-36708000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:36707000-36708000	Enhancers	Primary B cells from peripheral blood	blood
25	chr19:36707000-36708000	Enhancers	Brain Angular Gyrus	brain
26	chr19:36707000-36708000	Enhancers	Brain Substantia Nigra	brain
27	chr19:36707000-36708000	Enhancers	Fetal Muscle Trunk	muscle
28	chr19:36707000-36708200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr19:36707000-36708400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:36707000-36708400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:36707000-36708400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr19:36707000-36708400	Enhancers	Adipose Nuclei	Adipose
33	chr19:36707000-36708400	Enhancers	Brain Hippocampus Middle	brain
34	chr19:36707000-36708400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr19:36707000-36708600	Enhancers	Fetal Brain Male	brain
36	chr19:36707000-36708600	Weak transcription	Right Atrium	heart
37	chr19:36707000-36708800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr19:36707000-36709000	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr19:36707000-36709200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr19:36707000-36709800	Enhancers	Primary T cells fromperipheralblood	blood
41	chr19:36707000-36709800	Weak transcription	Placenta	Placenta
42	chr19:36707000-36710000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr19:36707000-36710000	Weak transcription	Fetal Intestine Large	intestine
44	chr19:36707000-36710200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr19:36707000-36711000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr19:36707000-36711800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:36707000-36711800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:36707000-36711800	Weak transcription	Colonic Mucosa	Colon
49	chr19:36707000-36712800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:36707000-36712800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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