Variant report

Variant	rs4731454
Chromosome Location	chr7:128063694-128063695
allele	C/G
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:0)
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	chr7:128045147..128050080-chr7:128061541..128066850,10	MCF-7	breast:
2	chr7:128035982..128041518-chr7:128062564..128068284,7	MCF-7	breast:
3	chr7:128050107..128052046-chr7:128063361..128066207,2	MCF-7	breast:
4	chr7:128044912..128048334-chr7:128062375..128066541,5	K562	blood:
5	chr7:128058762..128061562-chr7:128063088..128065048,2	K562	blood:
6	chr7:128042298..128048334-chr7:128059762..128065417,7	K562	blood:
7	chr7:128063091..128065550-chr7:128065722..128067520,2	K562	blood:
8	chr7:128055642..128057274-chr7:128062858..128065377,2	MCF-7	breast:
9	chr7:128048374..128053724-chr7:128060919..128066147,7	K562	blood:
10	chr7:128044762..128048052-chr7:128061346..128064155,3	MCF-7	breast:
11	chr7:127982008..127984015-chr7:128061546..128064363,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000106344	Chromatin interaction
ENSG00000106348	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10229016	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229394	1.00[CEU][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10230632	0.84[AMR][1000 genomes]
rs10230965	1.00[JPT][hapmap]
rs10245559	0.84[AMR][1000 genomes]
rs10251597	1.00[JPT][hapmap]
rs1035971	0.87[ASW][hapmap];0.82[LWK][hapmap];0.92[TSI][hapmap];0.89[YRI][hapmap]
rs1065267	0.89[CEU][hapmap]
rs11770116	1.00[CHB][hapmap];0.86[CHD][hapmap];0.86[MKK][hapmap];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11980741	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12672625	1.00[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs13245629	0.84[CHD][hapmap];1.00[JPT][hapmap]
rs1560214	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17537088	0.83[CEU][hapmap]
rs2288548	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2288549	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2402892	0.88[TSI][hapmap]
rs2402895	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2562730	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2562732	0.83[AMR][1000 genomes]
rs2562733	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs2562734	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2562737	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs2562740	1.00[JPT][hapmap]
rs2732394	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2732397	0.88[AMR][1000 genomes]
rs2732429	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2732432	0.84[AMR][1000 genomes]
rs3097361	0.87[AMR][1000 genomes]
rs4728108	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4731446	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4731448	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4731450	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4731453	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4731455	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6467178	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6947697	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6948333	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs930106	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4731454	IL31RA	trans	parietal	SCAN
rs4731454	TMEM209	cis	parietal	SCAN
rs4731454	FAM71F2	cis	cerebellum	SCAN
rs4731454	ZNF800	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128051400-128086200	Weak transcription	Right Atrium	heart
2	chr7:128055800-128063800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:128060400-128065000	Enhancers	Fetal Muscle Leg	muscle
4	chr7:128060600-128064800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:128061000-128063800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:128061000-128064000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr7:128061000-128065200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:128061800-128063800	Enhancers	Fetal Brain Male	brain
9	chr7:128062200-128064000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:128062200-128064000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr7:128062400-128063800	Enhancers	Fetal Brain Female	brain
12	chr7:128062600-128064200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr7:128062600-128064800	Enhancers	HepG2	liver
14	chr7:128062800-128064000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr7:128063000-128063800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr7:128063000-128063800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:128063000-128064200	Enhancers	Adipose Nuclei	Adipose
18	chr7:128063000-128064200	Enhancers	Liver	Liver
19	chr7:128063000-128064400	Enhancers	Hela-S3	cervix
20	chr7:128063000-128071600	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:128063200-128063800	Weak transcription	Esophagus	oesophagus
22	chr7:128063200-128064000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:128063200-128065600	Weak transcription	Placenta	Placenta
24	chr7:128063600-128063800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:128063600-128064000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:128063600-128064000	Enhancers	K562	blood
27	chr7:128063600-128064000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr7:128063600-128064000	Enhancers	NHDF-Ad	bronchial
29	chr7:128063600-128064200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:128063600-128064200	Enhancers	A549	lung
31	chr7:128063600-128065400	Enhancers	Fetal Lung	lung

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