Variant report

Variant	rs9908728
Chromosome Location	chr17:16940073-16940074
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16938674..16940195-chr17:16944421..16946987,2	K562	blood:

Variant related genes	Relation type
ENSG00000133030	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11867934	0.93[ASN][1000 genomes]
rs12601193	0.84[ASN][1000 genomes]
rs12601424	0.84[ASN][1000 genomes]
rs12601453	0.84[ASN][1000 genomes]
rs16961340	0.84[ASN][1000 genomes]
rs2271521	0.81[ASN][1000 genomes]
rs3744135	0.81[ASN][1000 genomes]
rs4078534	0.84[ASN][1000 genomes]
rs41319048	0.81[ASN][1000 genomes]
rs4328504	0.97[ASN][1000 genomes]
rs4608391	0.85[ASN][1000 genomes]
rs56332804	0.85[ASN][1000 genomes]
rs59100652	0.85[ASN][1000 genomes]
rs6502557	0.82[ASN][1000 genomes]
rs73277608	0.82[EUR][1000 genomes]
rs73277644	0.82[EUR][1000 genomes]
rs8064771	0.85[ASN][1000 genomes]
rs8068857	0.84[ASN][1000 genomes]
rs8069241	0.84[ASN][1000 genomes]
rs8069441	0.84[ASN][1000 genomes]
rs9909107	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][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	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
2	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
3	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9908728	M-RIP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16932400-16940600	Enhancers	HSMM	muscle
2	chr17:16932800-16944200	Weak transcription	Fetal Brain Female	brain
3	chr17:16934600-16944600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:16935200-16940800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr17:16935400-16941200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:16935600-16944400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr17:16935800-16945200	Weak transcription	Aorta	Aorta
8	chr17:16936000-16940200	Weak transcription	Pancreas	Pancrea
9	chr17:16936000-16942000	Weak transcription	Fetal Intestine Large	intestine
10	chr17:16936000-16943200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr17:16936000-16943400	Weak transcription	Fetal Brain Male	brain
12	chr17:16936000-16944200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr17:16936000-16944400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr17:16936000-16944400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr17:16936000-16944400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr17:16936000-16944400	Weak transcription	Colonic Mucosa	Colon
17	chr17:16936000-16944400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr17:16936000-16944400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr17:16936000-16944400	Enhancers	A549	lung
20	chr17:16936000-16944400	Weak transcription	NHEK	skin
21	chr17:16936000-16944600	Weak transcription	Gastric	stomach
22	chr17:16936000-16944600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr17:16936000-16944800	Weak transcription	Brain Angular Gyrus	brain
24	chr17:16936000-16944800	Weak transcription	Esophagus	oesophagus
25	chr17:16936200-16940800	Weak transcription	Liver	Liver
26	chr17:16936200-16942000	Weak transcription	Fetal Intestine Small	intestine
27	chr17:16936200-16943200	Weak transcription	Brain Anterior Caudate	brain
28	chr17:16936200-16944200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr17:16936200-16944400	Weak transcription	Brain Substantia Nigra	brain
30	chr17:16936200-16944400	Weak transcription	Colon Smooth Muscle	Colon
31	chr17:16936200-16944400	Weak transcription	Stomach Mucosa	stomach
32	chr17:16936200-16944800	Weak transcription	HUVEC	blood vessel
33	chr17:16936800-16940600	Enhancers	Primary hematopoietic stem cells	blood
34	chr17:16936800-16941400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr17:16937400-16944400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr17:16937600-16940200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr17:16937600-16941800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr17:16938800-16940400	Enhancers	Left Ventricle	heart
39	chr17:16938800-16940400	Enhancers	HSMMtube	muscle
40	chr17:16938800-16941200	Enhancers	Fetal Muscle Trunk	muscle
41	chr17:16938800-16941200	Enhancers	Fetal Muscle Leg	muscle
42	chr17:16938800-16941200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr17:16938800-16942200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr17:16939000-16940400	Enhancers	Fetal Thymus	thymus
45	chr17:16939000-16940600	Enhancers	Fetal Stomach	stomach
46	chr17:16939000-16941000	Enhancers	Fetal Lung	lung
47	chr17:16939200-16940400	Enhancers	Fetal Heart	heart
48	chr17:16939200-16940400	Weak transcription	Psoas Muscle	Psoas
49	chr17:16939200-16940600	Enhancers	Primary B cells from cord blood	blood
50	chr17:16939200-16941200	Enhancers	Placenta	Placenta

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