Variant report

Variant	rs28520987
Chromosome Location	chr17:33771956-33771957
allele	C/T
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	chr17:33770778-33771963	GM12892	blood:	n/a	n/a
2	POLR2A	chr17:33771392-33772048	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr17:33770520-33772055	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr17:33771416-33772049	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33769997..33772468-chr17:33774210..33776177,2	K562	blood:

Variant related genes	Relation type
SLFN13	TF binding region
ENSG00000154760	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs28414401	0.83[AMR][1000 genomes]
rs28446134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9896086	0.83[AMR][1000 genomes]
rs9896246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9896552	0.83[AMR][1000 genomes]
rs9910287	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS 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 target site	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv574741	chr17:33552275-33827134	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv457725	chr17:33664044-33774159	Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv574743	chr17:33664044-33774159	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv869869	chr17:33677545-33773100	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1056116	chr17:33691457-33815452	Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	esv3432530	chr17:33738621-33802241	Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33760600-33774400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:33761000-33773400	Weak transcription	Primary T cells from cord blood	blood
3	chr17:33761000-33774200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:33761000-33774400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr17:33761000-33774400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr17:33761000-33774400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr17:33761000-33775200	Weak transcription	Spleen	Spleen
8	chr17:33761200-33774000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr17:33761200-33774400	Weak transcription	Primary B cells from cord blood	blood
10	chr17:33761200-33774400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr17:33761200-33774400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr17:33761200-33774400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr17:33761200-33774400	Weak transcription	Fetal Thymus	thymus
14	chr17:33761200-33774400	Weak transcription	HMEC	breast
15	chr17:33761200-33774600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr17:33761400-33775200	Weak transcription	Lung	lung
17	chr17:33762000-33774800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:33763200-33774400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr17:33763400-33772200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr17:33763800-33773800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr17:33765200-33775000	Weak transcription	Esophagus	oesophagus
22	chr17:33766000-33772600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr17:33767400-33773200	Strong transcription	Dnd41	blood
24	chr17:33768200-33775200	Weak transcription	Gastric	stomach
25	chr17:33768400-33774400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr17:33768400-33774600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr17:33768600-33773600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:33769200-33773200	Strong transcription	GM12878-XiMat	blood
29	chr17:33769200-33774400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr17:33769600-33775200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr17:33770200-33774000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr17:33770400-33773600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr17:33770600-33772000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:33770600-33772200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr17:33771000-33772800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:33771000-33773200	Strong transcription	Primary hematopoietic stem cells	blood
37	chr17:33771800-33772200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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