Variant report

Variant	rs17269923
Chromosome Location	chr1:247372163-247372164
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247366973..247371599-chr1:247371697..247375755,6	MCF-7	breast:
2	chr1:247338400..247340247-chr1:247370932..247373277,2	K562	blood:
3	chr1:247371399..247373319-chr1:247494315..247496686,3	K562	blood:
4	chr1:247371907..247375145-chr1:247492885..247497524,4	MCF-7	breast:
5	chr1:247361273..247363730-chr1:247370221..247373518,3	K562	blood:
6	chr1:247249370..247251195-chr1:247370860..247372541,2	K562	blood:
7	chr1:247274493..247276812-chr1:247371838..247375899,3	K562	blood:
8	chr1:247371506..247373896-chr1:247494793..247496492,2	K562	blood:
9	chr1:247371861..247375582-chr1:247493463..247496360,5	MCF-7	breast:
10	chr1:247370277..247372519-chr1:247432525..247434040,2	K562	blood:
11	chr1:247370419..247372444-chr1:247470264..247472870,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NLRP3-4	chr1:247371783-247372435	NONHSAT010763

No data

Variant related genes	Relation type
ENSG00000224014	Chromatin interaction
ENSG00000221953	Chromatin interaction
ENSG00000252516	Chromatin interaction
ENSG00000162714	Chromatin interaction
ENSG00000227671	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10924964	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1115202	0.95[CEU][hapmap];0.98[EUR][1000 genomes]
rs12567626	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12569042	1.00[CEU][hapmap];0.90[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2380117	0.98[EUR][1000 genomes]
rs2892054	1.00[CEU][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35229190	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3738443	0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs41315860	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4269806	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4351686	0.95[CEU][hapmap];0.93[TSI][hapmap];0.98[EUR][1000 genomes]
rs4551629	0.83[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4582838	0.83[CEU][hapmap];0.82[CHB][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55643126	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55914345	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56029850	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56046175	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56065612	0.90[EUR][1000 genomes]
rs56340510	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58405512	0.98[EUR][1000 genomes]
rs60240280	0.95[EUR][1000 genomes]
rs60698393	0.99[EUR][1000 genomes]
rs61839991	0.87[EUR][1000 genomes]
rs61839994	0.94[EUR][1000 genomes]
rs61839996	0.98[EUR][1000 genomes]
rs61839997	0.89[EUR][1000 genomes]
rs61840000	0.90[EUR][1000 genomes]
rs61840048	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61840053	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61840054	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61840055	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61840056	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61840057	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61840059	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6656425	0.98[EUR][1000 genomes]
rs6660351	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs6665647	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs6666543	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6668154	0.95[CEU][hapmap];0.98[EUR][1000 genomes]
rs6680197	0.93[EUR][1000 genomes]
rs6698690	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs74152976	0.87[EUR][1000 genomes]
rs7536883	0.98[EUR][1000 genomes]
rs7546908	1.00[CEU][hapmap];0.97[GIH][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7551871	1.00[CEU][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv535417	chr1:247094131-247409000	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
3	nsv1005639	chr1:247094161-247401380	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
4	nsv535418	chr1:247094161-247401380	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
5	nsv916236	chr1:247124353-247409065	Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
6	nsv948419	chr1:247130577-247400404	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1002438	chr1:247173851-247401380	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
8	esv3336179	chr1:247195262-247373269	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv833126	chr1:247273084-247476150	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	n/a
10	nsv873436	chr1:247339064-247385877	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	n/a

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17269923	RP11-488L18.10	cis	Adipose Subcutaneous	GTEx
rs17269923	OR2M7	cis	parietal	SCAN
rs17269923	RP11-488L18.10	cis	Artery Tibial	GTEx
rs17269923	RP11-488L18.10	cis	lung	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247351800-247372400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
2	chr1:247354800-247372400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:247354800-247372400	Weak transcription	Right Ventricle	heart
4	chr1:247356000-247372400	Weak transcription	Brain Anterior Caudate	brain
5	chr1:247356000-247372400	Weak transcription	Fetal Brain Male	brain
6	chr1:247356000-247372600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:247356000-247372600	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:247356200-247372400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:247356200-247372400	Weak transcription	Colonic Mucosa	Colon
10	chr1:247356400-247372400	Weak transcription	Gastric	stomach
11	chr1:247358400-247372400	Weak transcription	Fetal Heart	heart
12	chr1:247359000-247372600	Weak transcription	Fetal Kidney	kidney
13	chr1:247360600-247372400	Weak transcription	Fetal Lung	lung
14	chr1:247360600-247372400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:247362400-247373400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:247362600-247372400	Weak transcription	Psoas Muscle	Psoas
17	chr1:247362600-247372800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:247362800-247372400	Weak transcription	Pancreas	Pancrea
19	chr1:247363000-247372400	Weak transcription	Ovary	ovary
20	chr1:247363000-247372400	Weak transcription	NH-A	brain
21	chr1:247363200-247372600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:247363400-247372400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:247363400-247372400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:247363600-247372200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:247363600-247372400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:247363600-247372400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:247363600-247372400	Weak transcription	Placenta	Placenta
28	chr1:247363600-247372400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:247363600-247372400	Weak transcription	Osteobl	bone
30	chr1:247363600-247372600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:247363600-247372800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:247364000-247372600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:247364400-247372400	Weak transcription	NHDF-Ad	bronchial
34	chr1:247365600-247372800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:247365800-247372400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:247365800-247372400	Weak transcription	Esophagus	oesophagus
37	chr1:247366200-247372400	Weak transcription	Aorta	Aorta
38	chr1:247367000-247372400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:247367000-247372600	Genic enhancers	Primary T cells fromperipheralblood	blood
40	chr1:247367600-247372400	Weak transcription	Fetal Intestine Large	intestine
41	chr1:247367800-247372400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:247367800-247372400	Weak transcription	HSMM	muscle
43	chr1:247368000-247372400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:247368000-247372400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:247368000-247372600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:247368600-247372400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:247369000-247372800	ZNF genes & repeats	A549	lung
48	chr1:247369800-247372200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:247369800-247372400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:247369800-247372400	Weak transcription	Left Ventricle	heart

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