Variant report

Variant	rs59320277
Chromosome Location	chr17:16944132-16944133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr17:16944131-16947555	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16943176..16945630-chr17:17102978..17105800,2	K562	blood:
2	chr17:16930112..16931615-chr17:16942008..16944719,2	K562	blood:

Variant related genes	Relation type
MPRIP	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11870035	0.80[AMR][1000 genomes]
rs11870483	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11870997	0.81[AMR][1000 genomes]
rs35650871	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4985721	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4985730	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9906028	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv543231	chr17:16926227-16950644	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs59320277	FLCN	cis	Thyroid	GTEx
rs59320277	M-RIP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16932800-16944200	Weak transcription	Fetal Brain Female	brain
2	chr17:16934600-16944600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:16935600-16944400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:16935800-16945200	Weak transcription	Aorta	Aorta
5	chr17:16936000-16944200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr17:16936000-16944400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr17:16936000-16944400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:16936000-16944400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr17:16936000-16944400	Weak transcription	Colonic Mucosa	Colon
10	chr17:16936000-16944400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr17:16936000-16944400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr17:16936000-16944400	Enhancers	A549	lung
13	chr17:16936000-16944400	Weak transcription	NHEK	skin
14	chr17:16936000-16944600	Weak transcription	Gastric	stomach
15	chr17:16936000-16944600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr17:16936000-16944800	Weak transcription	Brain Angular Gyrus	brain
17	chr17:16936000-16944800	Weak transcription	Esophagus	oesophagus
18	chr17:16936200-16944200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr17:16936200-16944400	Weak transcription	Brain Substantia Nigra	brain
20	chr17:16936200-16944400	Weak transcription	Colon Smooth Muscle	Colon
21	chr17:16936200-16944400	Weak transcription	Stomach Mucosa	stomach
22	chr17:16936200-16944800	Weak transcription	HUVEC	blood vessel
23	chr17:16937400-16944400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr17:16939200-16944600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr17:16939600-16944400	Weak transcription	K562	blood
26	chr17:16940400-16944200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr17:16940400-16944400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr17:16940400-16944400	Weak transcription	Brain Hippocampus Middle	brain
29	chr17:16940400-16944400	Weak transcription	Fetal Heart	heart
30	chr17:16940400-16944400	Weak transcription	Fetal Thymus	thymus
31	chr17:16940400-16944400	Weak transcription	Right Ventricle	heart
32	chr17:16940400-16944600	Weak transcription	Left Ventricle	heart
33	chr17:16940400-16944600	Weak transcription	NH-A	brain
34	chr17:16940400-16944800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr17:16940400-16944800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr17:16940400-16944800	Weak transcription	Right Atrium	heart
37	chr17:16940600-16944200	Weak transcription	HSMM	muscle
38	chr17:16940600-16944200	Weak transcription	NHLF	lung
39	chr17:16940600-16944800	Weak transcription	Primary B cells from cord blood	blood
40	chr17:16940600-16944800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr17:16940600-16945000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr17:16940800-16944600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr17:16941000-16944400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:16941000-16944400	Weak transcription	Fetal Lung	lung
45	chr17:16941000-16944400	Weak transcription	Osteobl	bone
46	chr17:16941200-16944200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr17:16941200-16944200	Weak transcription	Placenta	Placenta
48	chr17:16941200-16944200	Weak transcription	NHDF-Ad	bronchial
49	chr17:16941200-16944400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:16941200-16944400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links