Variant report

Variant	rs8073842
Chromosome Location	chr17:16922872-16922873
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16920777..16926602-chr17:16943525..16948995,8	MCF-7	breast:
2	chr17:16922009..16924326-chr17:16949178..16951661,2	MCF-7	breast:
3	chr17:16922760..16925384-chr17:16927836..16930121,3	K562	blood:
4	chr17:16921692..16923812-chr17:17738364..17740042,2	MCF-7	breast:
5	chr17:16920975..16923605-chr17:16945817..16947937,2	K562	blood:
6	chr17:16921667..16924582-chr17:17139472..17141116,2	MCF-7	breast:
7	chr17:16922760..16926151-chr17:16927403..16930298,5	K562	blood:

Variant related genes	Relation type
ENSG00000133030	Chromatin interaction
ENSG00000264187	Chromatin interaction
ENSG00000154803	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10852847	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11078374	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11656868	1.00[CHB][hapmap]
rs11867934	0.83[EUR][1000 genomes]
rs11871902	1.00[CHB][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2090018	1.00[ASN][1000 genomes]
rs2271520	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2349646	1.00[ASN][1000 genomes]
rs28461224	1.00[ASN][1000 genomes]
rs4247118	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4247120	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4275914	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4514740	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4985696	1.00[ASN][1000 genomes]
rs4985701	1.00[ASN][1000 genomes]
rs4985702	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4985717	1.00[ASN][1000 genomes]
rs4985740	1.00[CHB][hapmap];0.83[TSI][hapmap];1.00[ASN][1000 genomes]
rs4985746	1.00[ASN][1000 genomes]
rs4985778	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502563	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7206981	1.00[ASN][1000 genomes]
rs7207485	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7208929	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7208973	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7217091	1.00[CHB][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs7221842	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7222311	1.00[ASN][1000 genomes]
rs8064550	1.00[ASN][1000 genomes]
rs8072184	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8079563	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9893911	1.00[ASN][1000 genomes]
rs9898995	1.00[ASN][1000 genomes]
rs9908767	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9914671	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv907727	chr17:16892265-16938582	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs8073842	FLCN	cis	parietal	SCAN
rs8073842	UBB	cis	cerebellum	SCAN
rs8073842	ULK2	cis	cerebellum	SCAN
rs8073842	LOC162632	cis	parietal	SCAN
rs8073842	FLCN	cis	cerebellum	SCAN
rs8073842	ZNF841	trans	cerebellum	SCAN
rs8073842	FBXO48	trans	cerebellum	SCAN
rs8073842	TOM1L2	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16906800-16923400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:16915000-16923600	Weak transcription	HSMMtube	muscle
3	chr17:16917400-16923800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr17:16917400-16926200	Enhancers	Stomach Mucosa	stomach
5	chr17:16918000-16926200	Enhancers	Placenta	Placenta
6	chr17:16918600-16924200	Weak transcription	Osteobl	bone
7	chr17:16918800-16923200	Weak transcription	HSMM	muscle
8	chr17:16918800-16924200	Enhancers	Hela-S3	cervix
9	chr17:16918800-16924200	Weak transcription	K562	blood
10	chr17:16918800-16930800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr17:16919000-16924200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr17:16919200-16923600	Weak transcription	Brain Anterior Caudate	brain
13	chr17:16919200-16924200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr17:16919200-16924200	Weak transcription	Small Intestine	intestine
15	chr17:16919800-16926200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:16920200-16923600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr17:16920200-16926200	Enhancers	Pancreas	Pancrea
18	chr17:16920400-16923800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr17:16921000-16923800	Enhancers	Esophagus	oesophagus
20	chr17:16921000-16923800	Enhancers	NHEK	skin
21	chr17:16921000-16924200	Enhancers	Lung	lung
22	chr17:16921000-16924400	Enhancers	Fetal Intestine Small	intestine
23	chr17:16921000-16926200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr17:16921200-16923400	Enhancers	Fetal Thymus	thymus
25	chr17:16921200-16924200	Enhancers	Fetal Intestine Large	intestine
26	chr17:16921200-16925400	Enhancers	HMEC	breast
27	chr17:16921400-16924800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr17:16921800-16924200	Enhancers	A549	lung
29	chr17:16922200-16923600	Enhancers	HepG2	liver
30	chr17:16922200-16924400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr17:16922400-16924200	Weak transcription	Colonic Mucosa	Colon
32	chr17:16922400-16925400	Weak transcription	Spleen	Spleen
33	chr17:16922400-16928000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:16922600-16924200	Weak transcription	Fetal Lung	lung
35	chr17:16922600-16924400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr17:16922600-16925200	Weak transcription	Gastric	stomach
37	chr17:16922800-16928800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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