Variant report

Variant	rs9937844
Chromosome Location	chr16:80059171-80059172
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:79802080..79804842-chr16:80056465..80059230,3	MCF-7	breast:
2	chr16:80059154..80062850-chr16:80065920..80069891,5	MCF-7	breast:
3	chr16:80058380..80061170-chr16:80073042..80075693,3	MCF-7	breast:
4	chr16:80045568..80049024-chr16:80056361..80060062,5	MCF-7	breast:
5	chr16:80052898..80058811-chr16:80059069..80065197,11	MCF-7	breast:
6	chr16:80032529..80034163-chr16:80057052..80059822,2	MCF-7	breast:
7	chr16:79640662..79643059-chr16:80057931..80060430,2	MCF-7	breast:
8	chr16:80058579..80060805-chr16:80116598..80118912,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261390	Chromatin interaction
ENSG00000260876	Chromatin interaction
ENSG00000260237	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1115722	0.84[EUR][1000 genomes]
rs11645922	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12716881	0.93[EUR][1000 genomes]
rs12921255	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13333795	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1478505	0.89[EUR][1000 genomes]
rs1478506	0.89[EUR][1000 genomes]
rs2199645	0.83[EUR][1000 genomes]
rs34941385	0.83[EUR][1000 genomes]
rs4354957	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs4363873	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs4365299	0.91[CEU][hapmap];0.96[GIH][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs4402582	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4407073	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4500741	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4500745	0.88[EUR][1000 genomes]
rs4545830	0.84[EUR][1000 genomes]
rs4888067	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4889067	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4889068	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.96[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4889084	0.91[EUR][1000 genomes]
rs4889086	0.86[CEU][hapmap];0.91[EUR][1000 genomes]
rs4889090	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs4889092	0.88[EUR][1000 genomes]
rs4889093	0.83[EUR][1000 genomes]
rs6564727	0.89[EUR][1000 genomes]
rs6564728	0.82[CEU][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs6564729	0.88[EUR][1000 genomes]
rs6564730	0.88[EUR][1000 genomes]
rs7184607	0.88[EUR][1000 genomes]
rs7185080	0.84[EUR][1000 genomes]
rs7192544	0.86[CEU][hapmap];0.91[EUR][1000 genomes]
rs7192753	0.82[CEU][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs7193465	0.94[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.84[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8050142	0.86[CEU][hapmap];0.82[GIH][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs8050160	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8050173	0.84[EUR][1000 genomes]
rs8057937	0.83[EUR][1000 genomes]
rs8059251	0.91[EUR][1000 genomes]
rs9940390	0.84[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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv573294	chr16:80005642-80131944	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9937844	RFWD3	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80057200-80059600	Enhancers	Fetal Stomach	stomach
2	chr16:80057400-80059600	Enhancers	Stomach Smooth Muscle	stomach
3	chr16:80057800-80059400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:80058000-80059400	Weak transcription	Colon Smooth Muscle	Colon
5	chr16:80058000-80060600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:80058000-80060600	Weak transcription	HSMM	muscle
7	chr16:80058000-80061000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:80058000-80061000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:80058000-80061000	Weak transcription	Placenta	Placenta
10	chr16:80058000-80061000	Weak transcription	Small Intestine	intestine
11	chr16:80058000-80061200	Weak transcription	Right Atrium	heart
12	chr16:80058000-80062200	Weak transcription	Esophagus	oesophagus
13	chr16:80058200-80059200	Weak transcription	NHEK	skin
14	chr16:80058200-80060400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr16:80058200-80060400	Weak transcription	HMEC	breast
16	chr16:80058200-80060600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:80058200-80060800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:80058200-80060800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr16:80058200-80060800	Weak transcription	K562	blood
20	chr16:80058200-80060800	Weak transcription	NH-A	brain
21	chr16:80058400-80060800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr16:80058400-80060800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr16:80058400-80061000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr16:80058400-80061000	Weak transcription	Osteobl	bone
25	chr16:80058600-80059200	Enhancers	Duodenum Mucosa	Duodenum
26	chr16:80058600-80059200	Enhancers	Fetal Muscle Leg	muscle
27	chr16:80058600-80060600	Weak transcription	HUVEC	blood vessel
28	chr16:80058800-80060800	Enhancers	A549	lung
29	chr16:80059000-80059400	Weak transcription	HSMMtube	muscle
30	chr16:80059000-80060800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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