Variant report

Variant	rs613040
Chromosome Location	chr9:98187484-98187485
allele	C/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:98186276..98191956-chr9:98269234..98276633,9	K562	blood:
2	chr9:98187259..98193172-chr9:98208629..98217669,12	MCF-7	breast:
3	chr9:98167871..98172268-chr9:98186784..98190412,5	MCF-7	breast:
4	chr9:98185536..98188227-chr9:98188428..98190298,2	MCF-7	breast:
5	chr9:98187278..98190652-chr9:98265637..98273315,6	K562	blood:
6	chr9:98187335..98191305-chr9:98637767..98639481,3	MCF-7	breast:
7	chr9:98079206..98081701-chr9:98186785..98188899,2	K562	blood:
8	chr9:98174491..98183187-chr9:98187141..98190074,10	K562	blood:
9	chr9:98184923..98187907-chr9:98195296..98197240,2	K562	blood:
10	chr9:98077890..98080706-chr9:98186785..98188874,2	K562	blood:
11	chr9:98147446..98149093-chr9:98186527..98188280,2	MCF-7	breast:
12	chr9:98171235..98175849-chr9:98186797..98190089,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213761	Chromatin interaction
ENSG00000182150	Chromatin interaction
ENSG00000271384	Chromatin interaction
ENSG00000271659	Chromatin interaction
ENSG00000185920	Chromatin interaction
ENSG00000271155	Chromatin interaction
ENSG00000158169	Chromatin interaction
ENSG00000175611	Chromatin interaction
ENSG00000237857	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10993543	0.95[EUR][1000 genomes]
rs28517704	0.87[AMR][1000 genomes]
rs28615951	0.83[AMR][1000 genomes]
rs357520	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs357523	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs357524	0.84[EUR][1000 genomes]
rs357525	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs357526	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs357527	0.82[AMR][1000 genomes]
rs357530	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs357531	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs357535	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs357537	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs357541	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs357544	0.84[EUR][1000 genomes]
rs357545	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs357556	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs357560	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs357561	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs357562	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs419574	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57247461	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs58831996	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61652825	0.87[AMR][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	nsv831657	chr9:97959274-98204769	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv831658	chr9:98152971-98342178	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1051731	chr9:98154815-98201115	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98160400-98188400	Weak transcription	Pancreas	Pancrea
2	chr9:98173600-98188200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:98182000-98188400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:98184600-98187800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr9:98185600-98188200	Weak transcription	Fetal Brain Male	brain
6	chr9:98185600-98188400	Weak transcription	NHLF	lung
7	chr9:98185800-98188000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr9:98185800-98188000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr9:98185800-98188000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:98185800-98188000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:98185800-98188000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr9:98185800-98188000	Weak transcription	Fetal Lung	lung
13	chr9:98185800-98188000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr9:98185800-98188000	Weak transcription	HepG2	liver
15	chr9:98185800-98188000	Weak transcription	HMEC	breast
16	chr9:98185800-98188000	Weak transcription	K562	blood
17	chr9:98185800-98188200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr9:98185800-98188200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr9:98185800-98188200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr9:98185800-98188200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr9:98185800-98188400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr9:98185800-98188400	Weak transcription	Right Ventricle	heart
23	chr9:98186000-98188200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr9:98186000-98188200	Weak transcription	Liver	Liver
25	chr9:98186400-98188000	Weak transcription	NHEK	skin
26	chr9:98186600-98188400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr9:98187000-98187800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr9:98187000-98187800	Weak transcription	A549	lung
29	chr9:98187200-98188000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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