Variant report

Variant	rs9891149
Chromosome Location	chr17:46520862-46520863
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46518879..46521874-chr17:46522695..46525277,2	K562	blood:
2	chr17:46515918..46518045-chr17:46519847..46521809,2	K562	blood:
3	chr17:46519351..46522263-chr17:46657755..46660569,3	K562	blood:
4	chr17:46519351..46522056-chr17:46657755..46660727,3	K562	blood:
5	chr17:46519655..46521952-chr17:46522773..46525043,2	K562	blood:

Variant related genes	Relation type
ENSG00000120093	Chromatin interaction
ENSG00000257178	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12326027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6504258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7213163	1.00[EUR][1000 genomes]
rs8073595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8074088	1.00[EUR][1000 genomes]
rs8074754	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9303545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9891014	1.00[AFR][1000 genomes]
rs9895188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9898743	1.00[EUR][1000 genomes]
rs9901714	1.00[EUR][1000 genomes]
rs9901750	1.00[EUR][1000 genomes]
rs9903647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9908054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9908741	1.00[EUR][1000 genomes]
rs9911434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9916477	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv2761960	chr17:46504489-46529846	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46510600-46524000	Enhancers	Primary T cells fromperipheralblood	blood
2	chr17:46512600-46524200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr17:46513600-46523800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:46514800-46522000	Enhancers	Primary B cells from peripheral blood	blood
5	chr17:46515400-46522800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr17:46515800-46522600	Enhancers	K562	blood
7	chr17:46515800-46524000	Enhancers	Primary B cells from cord blood	blood
8	chr17:46517800-46521800	Weak transcription	Gastric	stomach
9	chr17:46518600-46522000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr17:46518800-46526200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr17:46519000-46521800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr17:46519200-46522000	Weak transcription	Spleen	Spleen
13	chr17:46519400-46522000	Enhancers	Primary T cells from cord blood	blood
14	chr17:46519400-46525200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr17:46519600-46522000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr17:46519600-46524000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr17:46519800-46521600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr17:46519800-46521600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr17:46520000-46522000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr17:46520200-46521000	Enhancers	GM12878-XiMat	blood
21	chr17:46520200-46521800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr17:46520400-46521400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr17:46520400-46522000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr17:46520600-46521600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:46520600-46522000	Weak transcription	Thymus	Thymus
26	chr17:46520600-46530800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:46520800-46521200	Weak transcription	Fetal Thymus	thymus
28	chr17:46520800-46521800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links