Variant report

Variant	rs73289913
Chromosome Location	chr17:18153917-18153918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:18153783-18154063	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr17:18153707-18153935	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr17:18153785-18155938	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr17:18153674-18153969	MCF-7	breast:	n/a	n/a
5	POLR2A	chr17:18153430-18156102	A549	lung:	n/a	n/a
6	POLR2A	chr17:18153796-18154050	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr17:18153635-18154004	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr17:18153501-18153951	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18136077..18142771-chr17:18143654..18157956,22	MCF-7	breast:
2	chr17:18153889..18155412-chr17:18155718..18157300,2	K562	blood:
3	chr17:18149718..18151859-chr17:18152303..18154307,2	K562	blood:
4	chr17:18127210..18129786-chr17:18153749..18156676,2	MCF-7	breast:
5	chr17:18150956..18154641-chr17:18182536..18186839,4	MCF-7	breast:

No data

Variant related genes	Relation type
FLII	TF binding region
ENSG00000131899	Chromatin interaction
ENSG00000177302	Chromatin interaction
ENSG00000177731	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs17855350	1.00[EUR][1000 genomes]
rs28694704	1.00[EUR][1000 genomes]
rs55854919	0.83[AMR][1000 genomes]
rs56109231	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56180580	1.00[EUR][1000 genomes]
rs56735648	1.00[EUR][1000 genomes]
rs56793258	1.00[EUR][1000 genomes]
rs58115308	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58499955	1.00[EUR][1000 genomes]
rs59738176	1.00[EUR][1000 genomes]
rs59867698	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60320587	1.00[EUR][1000 genomes]
rs60510653	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60699593	1.00[EUR][1000 genomes]
rs60708953	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60814048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61361031	1.00[EUR][1000 genomes]
rs61576260	1.00[EUR][1000 genomes]
rs7207131	1.00[EUR][1000 genomes]
rs7207489	1.00[EUR][1000 genomes]
rs7213472	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7213789	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7219191	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7226015	1.00[EUR][1000 genomes]
rs73288279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288297	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288302	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73980805	1.00[EUR][1000 genomes]
rs8064901	1.00[EUR][1000 genomes]
rs8068530	1.00[EUR][1000 genomes]
rs8069012	1.00[EUR][1000 genomes]
rs8071028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8071911	1.00[EUR][1000 genomes]
rs8074322	1.00[EUR][1000 genomes]
rs8080816	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8082574	0.91[AMR][1000 genomes]
rs9910599	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv907773	chr17:18099962-18206234	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv907774	chr17:18103907-18206234	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv907775	chr17:18108496-18206234	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv543246	chr17:18121007-18165604	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
11	nsv9503	chr17:18121474-18169166	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
12	nsv907776	chr17:18122485-18170948	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
13	nsv1066718	chr17:18125122-18180807	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv907777	chr17:18131087-18163262	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18135200-18160000	Strong transcription	Fetal Brain Female	brain
2	chr17:18135400-18159600	Strong transcription	Primary T cells from cord blood	blood
3	chr17:18135400-18160200	Strong transcription	Thymus	Thymus
4	chr17:18135600-18159000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:18135600-18159400	Strong transcription	Fetal Lung	lung
6	chr17:18135600-18160000	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr17:18135800-18160400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:18136000-18159800	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr17:18136000-18160000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr17:18136200-18160000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:18136200-18160000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr17:18139400-18159800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:18139800-18160000	Strong transcription	Osteobl	bone
14	chr17:18139800-18160200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:18140000-18160000	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr17:18143400-18160200	Strong transcription	NHLF	lung
17	chr17:18143600-18160000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr17:18143800-18160000	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr17:18143800-18160200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr17:18144000-18160000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr17:18144000-18160200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr17:18144200-18159200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr17:18144200-18160000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr17:18144600-18159600	Strong transcription	Dnd41	blood
25	chr17:18144600-18159800	Strong transcription	Fetal Thymus	thymus
26	chr17:18144800-18159200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr17:18144800-18159800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:18145400-18159400	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr17:18145600-18159000	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr17:18145800-18156000	Strong transcription	Primary B cells from cord blood	blood
31	chr17:18146200-18159600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr17:18146200-18159600	Strong transcription	HSMMtube	muscle
33	chr17:18146600-18160000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr17:18146800-18159400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr17:18147000-18156600	Strong transcription	Liver	Liver
36	chr17:18147200-18159800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr17:18147400-18159600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr17:18148000-18159800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr17:18148200-18159800	Strong transcription	HepG2	liver
40	chr17:18148200-18160200	Strong transcription	Aorta	Aorta
41	chr17:18148400-18157800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr17:18149400-18154000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr17:18149600-18156400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr17:18150000-18154000	Weak transcription	Small Intestine	intestine
45	chr17:18150800-18157000	Weak transcription	Fetal Kidney	kidney
46	chr17:18150800-18159400	Strong transcription	Brain Germinal Matrix	brain
47	chr17:18150800-18160000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr17:18150800-18160000	Strong transcription	Fetal Intestine Large	intestine
49	chr17:18150800-18160000	Strong transcription	HSMM	muscle
50	chr17:18151000-18160000	Strong transcription	H9 Cell Line	embryonic stem cell

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