Variant report

Variant	rs1071965
Chromosome Location	chr17:33868756-33868757
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	IRF1	chr17:33867194-33868777	K562	blood:	n/a	chr17:33868262-33868273 chr17:33868261-33868275 chr17:33868255-33868276 chr17:33868257-33868271 chr17:33868260-33868272 chr17:33868260-33868272 chr17:33868258-33868272 chr17:33868259-33868272 chr17:33868261-33868271 chr17:33868260-33868277 chr17:33868261-33868272
2	IRF1	chr17:33867952-33868789	K562	blood:	n/a	chr17:33868262-33868273 chr17:33868261-33868275 chr17:33868255-33868276 chr17:33868257-33868271 chr17:33868260-33868272 chr17:33868260-33868272 chr17:33868258-33868272 chr17:33868259-33868272 chr17:33868261-33868271 chr17:33868260-33868277 chr17:33868261-33868272

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33868292..33870030-chr17:33881213..33883441,2	K562	blood:
2	chr17:33463726..33465854-chr17:33866569..33869012,2	K562	blood:

Variant related genes	Relation type
SLFN12L	TF binding region
ENSG00000267035	TF binding region
ENSG00000073536	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1001441	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1037590	0.85[CHB][hapmap]
rs10512472	0.90[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs11870472	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12452797	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs12604067	0.81[CHB][hapmap]
rs16971217	0.80[CHB][hapmap]
rs1968578	0.83[ASN][1000 genomes]
rs28498569	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34054049	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7503168	0.84[ASN][1000 genomes]
rs9894057	0.84[ASN][1000 genomes]
rs9904644	0.86[AMR][1000 genomes]
rs9905788	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9906105	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv574754	chr17:33841737-33881631	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33862800-33869400	Weak transcription	Spleen	Spleen
2	chr17:33866000-33869800	Enhancers	Lung	lung
3	chr17:33867400-33868800	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr17:33867400-33868800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:33867600-33868800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr17:33867600-33868800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr17:33867600-33869000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr17:33867600-33869000	Active TSS	Rectal Smooth Muscle	rectum
9	chr17:33867600-33869000	Flanking Active TSS	Dnd41	blood
10	chr17:33867800-33868800	Active TSS	GM12878-XiMat	blood
11	chr17:33867800-33868800	Flanking Active TSS	HUVEC	blood vessel
12	chr17:33867800-33869000	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr17:33867800-33869000	Active TSS	Right Atrium	heart
14	chr17:33868000-33869000	Active TSS	Colonic Mucosa	Colon
15	chr17:33868200-33868800	Weak transcription	Small Intestine	intestine
16	chr17:33868200-33868800	Enhancers	NHDF-Ad	bronchial
17	chr17:33868400-33868800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr17:33868400-33868800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr17:33868400-33868800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr17:33868400-33868800	Bivalent Enhancer	Fetal Kidney	kidney
21	chr17:33868400-33868800	Weak transcription	Thymus	Thymus
22	chr17:33868400-33869000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr17:33868400-33869000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr17:33868400-33869000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr17:33868400-33869200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr17:33868400-33869400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr17:33868400-33870600	Enhancers	Fetal Thymus	thymus
28	chr17:33868400-33871000	Enhancers	Primary B cells from peripheral blood	blood
29	chr17:33868600-33868800	Enhancers	Liver	Liver
30	chr17:33868600-33868800	Enhancers	Osteobl	bone
31	chr17:33868600-33869000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr17:33868600-33869000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr17:33868600-33869000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr17:33868600-33869000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr17:33868600-33869000	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr17:33868600-33869200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr17:33868600-33869400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr17:33868600-33870000	Weak transcription	Adipose Nuclei	Adipose
39	chr17:33868600-33870000	Weak transcription	K562	blood
40	chr17:33868600-33870200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr17:33868600-33870400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr17:33868600-33870800	Enhancers	Primary B cells from cord blood	blood
43	chr17:33868600-33871600	Enhancers	Primary hematopoietic stem cells	blood
44	chr17:33868600-33871600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr17:33868600-33872200	Weak transcription	Stomach Mucosa	stomach
46	chr17:33868600-33872200	Weak transcription	A549	lung

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