Variant report

Variant	rs495511
Chromosome Location	chr17:38580893-38580894
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38578949..38581775-chr17:38595940..38600139,4	K562	blood:
2	chr17:38572047..38583621-chr17:38597341..38605150,24	MCF-7	breast:
3	chr17:38579876..38582624-chr17:38593992..38595822,2	K562	blood:
4	chr17:38580560..38584947-chr17:38585760..38591436,7	K562	blood:
5	chr17:38579397..38583987-chr17:38597379..38601075,4	K562	blood:
6	chr17:38571103..38577451-chr17:38579534..38584993,12	K562	blood:

Variant related genes	Relation type
ENSG00000141753	Chromatin interaction
ENSG00000131747	Chromatin interaction
ENSG00000240125	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1530363	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16965783	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2586112	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2715557	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs471692	0.83[EUR][1000 genomes]
rs473198	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs474510	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs505633	0.86[AMR][1000 genomes]
rs507564	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs525217	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs525812	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs528045	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs532299	0.87[AMR][1000 genomes]
rs552857	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs557498	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs558068	0.86[EUR][1000 genomes]
rs62066565	0.87[EUR][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	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38575000-38582000	Weak transcription	Psoas Muscle	Psoas
2	chr17:38575400-38582000	Weak transcription	Placenta	Placenta
3	chr17:38575400-38588600	Weak transcription	Fetal Stomach	stomach
4	chr17:38576000-38582200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr17:38576400-38581000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr17:38576400-38581000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr17:38576400-38581200	Weak transcription	Primary T cells from cord blood	blood
8	chr17:38576400-38581200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr17:38576400-38581800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr17:38576400-38581800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr17:38576400-38581800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr17:38576400-38581800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr17:38576400-38581800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr17:38576600-38581200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr17:38576600-38581800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr17:38576600-38581800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:38576600-38581800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:38576600-38583400	Weak transcription	Lung	lung
19	chr17:38576800-38582000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr17:38576800-38582000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr17:38579600-38582000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:38579600-38582000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr17:38579600-38582000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr17:38579600-38582400	Weak transcription	HepG2	liver
25	chr17:38579600-38598800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr17:38579800-38581200	Weak transcription	Fetal Muscle Leg	muscle
27	chr17:38579800-38581800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr17:38579800-38582000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr17:38580000-38581800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr17:38580000-38582000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:38580000-38582000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr17:38580000-38582000	Weak transcription	K562	blood
33	chr17:38580000-38582200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr17:38580000-38582400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr17:38580200-38581200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr17:38580200-38582200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr17:38580200-38582200	Weak transcription	A549	lung
38	chr17:38580400-38582000	Weak transcription	Spleen	Spleen
39	chr17:38580600-38581400	Enhancers	GM12878-XiMat	blood
40	chr17:38580600-38582000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr17:38580800-38581000	Enhancers	Fetal Thymus	thymus
42	chr17:38580800-38581200	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr17:38580800-38584600	Enhancers	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links