Variant report

Variant	rs11652097
Chromosome Location	chr17:45316717-45316718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45315467..45317488-chr17:45387881..45390169,2	MCF-7	breast:
2	chr17:45307818..45310249-chr17:45315269..45317004,2	K562	blood:
3	chr17:45314938..45317861-chr17:45328572..45331526,2	K562	blood:
4	chr17:45223999..45225599-chr17:45315426..45317942,2	K562	blood:
5	chr17:45311950..45314693-chr17:45316082..45319144,3	K562	blood:

Variant related genes	Relation type
ENSG00000259207	Chromatin interaction
ENSG00000259753	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11651477	0.84[CHB][hapmap]
rs11655536	0.85[CHB][hapmap]

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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv521092	chr17:45309693-45317499	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11652097	C17orf57	cis	cerebellum	SCAN
rs11652097	C17orf57	cis	parietal	SCAN
rs11652097	SNX11	cis	parietal	SCAN
rs11652097	HSD17B1	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45307800-45317200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr17:45308000-45316800	Weak transcription	HSMMtube	muscle
3	chr17:45308200-45317000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr17:45310800-45316800	Weak transcription	K562	blood
5	chr17:45314200-45317000	Weak transcription	Right Ventricle	heart
6	chr17:45314200-45330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:45315400-45316800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr17:45315800-45317200	Weak transcription	Spleen	Spleen
9	chr17:45316000-45317200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr17:45316000-45321600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:45316200-45317000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr17:45316200-45317200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr17:45316200-45318600	Enhancers	Fetal Muscle Leg	muscle
14	chr17:45316400-45316800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr17:45316400-45317800	Enhancers	HUVEC	blood vessel
16	chr17:45316400-45318400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:45316400-45318600	Enhancers	Fetal Heart	heart
18	chr17:45316400-45318600	Enhancers	Fetal Intestine Large	intestine
19	chr17:45316600-45317200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr17:45316600-45317200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr17:45316600-45317800	Enhancers	Brain Substantia Nigra	brain
22	chr17:45316600-45318000	Enhancers	Hela-S3	cervix
23	chr17:45316600-45318400	Enhancers	NHLF	lung
24	chr17:45316600-45318600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr17:45316600-45318600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr17:45316600-45318600	Enhancers	Fetal Intestine Small	intestine
27	chr17:45316600-45318600	Enhancers	Placenta	Placenta
28	chr17:45316600-45318600	Enhancers	Left Ventricle	heart
29	chr17:45316600-45318600	Enhancers	Psoas Muscle	Psoas
30	chr17:45316600-45318600	Enhancers	Right Atrium	heart
31	chr17:45316600-45318600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr17:45316600-45318600	Enhancers	NH-A	brain
33	chr17:45316600-45318800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links