Variant report

Variant	rs9292883
Chromosome Location	chr5:43513745-43513746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr5:43513290-43516741	SK-N-SH	brain:	n/a	n/a
2	HCFC1	chr5:43513376-43516275	Hela-S3	cervix:	n/a	n/a
3	STAT1	chr5:43513721-43513877	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:43513474-43515821	H1-hESC	embryonic stem cell:	n/a	n/a
5	GATA1	chr5:43513691-43515890	PBDE	blood:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43513317..43518816-chr5:43554982..43559074,7	K562	blood:
2	chr5:43481776..43485753-chr5:43513662..43518339,9	MCF-7	breast:
3	chr5:43512176..43514103-chr5:43524238..43526099,2	K562	blood:
4	chr5:43505117..43507212-chr5:43512468..43514736,2	MCF-7	breast:
5	chr5:43513630..43515846-chr5:43533848..43535598,2	K562	blood:
6	chr5:43509258..43511697-chr5:43513556..43516037,3	MCF-7	breast:
7	chr5:43513716..43515768-chr5:43530681..43534102,3	K562	blood:
8	chr5:43512794..43515547-chr5:43602190..43604500,3	MCF-7	breast:
9	chr5:43482660..43486669-chr5:43512252..43517355,11	K562	blood:
10	chr5:43513363..43516571-chr5:43601265..43603524,3	K562	blood:
11	chr5:43513317..43519979-chr5:43552519..43558793,19	K562	blood:
12	chr5:43513305..43514907-chr5:43612874..43615752,2	K562	blood:
13	chr5:43481800..43486706-chr5:43511486..43517226,18	K562	blood:
14	chr5:43120420..43122830-chr5:43512903..43515731,2	MCF-7	breast:
15	chr5:43512406..43514161-chr5:43514253..43515854,2	MCF-7	breast:
16	chr5:43505860..43508968-chr5:43512640..43515485,3	MCF-7	breast:
17	chr5:43497163..43499882-chr5:43512061..43513995,2	K562	blood:
18	chr5:43482302..43485563-chr5:43510151..43513746,5	MCF-7	breast:
19	chr5:43512478..43519226-chr5:43552704..43558861,10	MCF-7	breast:
20	chr5:43513168..43514863-chr5:43601300..43603007,2	K562	blood:
21	chr5:43502114..43510409-chr5:43511788..43516990,15	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248240	TF binding region
ENSG00000248240	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000248554	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000248092	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10036954	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10038608	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10042992	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10045400	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10045455	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10058558	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10061165	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10065863	0.82[ASN][1000 genomes]
rs10074682	0.85[EUR][1000 genomes]
rs10447144	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10462051	0.90[EUR][1000 genomes]
rs10473311	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10941640	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12332560	0.90[EUR][1000 genomes]
rs12651879	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12652547	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12659369	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12697452	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13185343	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13189004	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13360902	0.93[ASN][1000 genomes]
rs1389868	0.86[EUR][1000 genomes]
rs1389869	0.86[EUR][1000 genomes]
rs1428640	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2013173	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2131999	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2132000	0.88[EUR][1000 genomes]
rs2172763	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34007811	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35710460	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35881272	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36013953	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3776423	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3806870	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4073848	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073850	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4073851	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4242099	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4308491	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4331909	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4367306	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4415083	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4467713	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4513704	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4541663	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4576155	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4610465	0.90[ASN][1000 genomes]
rs4866746	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4866752	0.83[ASN][1000 genomes]
rs4866833	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55641556	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56400900	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57547662	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57597020	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6451692	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6451693	0.85[EUR][1000 genomes]
rs6451695	0.89[EUR][1000 genomes]
rs6451696	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6451698	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6451703	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6451704	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6451706	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6451712	0.91[EUR][1000 genomes]
rs6451718	0.84[ASN][1000 genomes]
rs67466542	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67581152	0.89[EUR][1000 genomes]
rs6858942	0.85[EUR][1000 genomes]
rs6861704	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6862102	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6865217	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6870018	0.88[EUR][1000 genomes]
rs6870783	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6883661	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73100614	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs750582	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs750584	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7701429	0.83[ASN][1000 genomes]
rs7707976	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7708072	0.84[ASN][1000 genomes]
rs7708369	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7708443	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7710125	0.84[ASN][1000 genomes]
rs7717636	0.90[EUR][1000 genomes]
rs7724571	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7731091	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7734393	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7735243	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7737793	0.90[ASN][1000 genomes]
rs9686159	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9687341	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9885467	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43484800-43514000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:43484800-43514600	Weak transcription	Ovary	ovary
3	chr5:43484800-43514800	Weak transcription	Spleen	Spleen
4	chr5:43485000-43513800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:43485000-43514200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:43485200-43514200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:43485400-43514200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:43485800-43514200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:43486000-43514200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr5:43492000-43514600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:43495000-43514600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:43498200-43513800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr5:43498200-43514000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:43498200-43514200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:43498200-43514200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:43499400-43514600	Weak transcription	Left Ventricle	heart
17	chr5:43499800-43514600	Weak transcription	Aorta	Aorta
18	chr5:43501600-43514200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr5:43502200-43514600	Weak transcription	Esophagus	oesophagus
20	chr5:43503200-43514200	Weak transcription	HSMMtube	muscle
21	chr5:43504200-43514200	Weak transcription	Liver	Liver
22	chr5:43504200-43514600	Weak transcription	Lung	lung
23	chr5:43506000-43514200	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:43506000-43514400	Weak transcription	Colonic Mucosa	Colon
25	chr5:43506200-43513800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr5:43506200-43514000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:43506200-43514000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr5:43506200-43514600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr5:43506400-43513800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:43506400-43513800	Weak transcription	Fetal Brain Female	brain
31	chr5:43506400-43514200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr5:43506400-43514200	Weak transcription	Adipose Nuclei	Adipose
33	chr5:43506400-43514200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr5:43506400-43514600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:43506600-43514200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr5:43511400-43514000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:43511400-43514600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:43513000-43514200	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr5:43513200-43514400	Flanking Active TSS	Hela-S3	cervix
40	chr5:43513200-43514600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr5:43513400-43513800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr5:43513400-43513800	Flanking Active TSS	GM12878-XiMat	blood
43	chr5:43513400-43513800	Flanking Active TSS	NHLF	lung
44	chr5:43513400-43514000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:43513400-43514000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:43513400-43514000	Flanking Active TSS	HMEC	breast
47	chr5:43513400-43514000	Flanking Active TSS	K562	blood
48	chr5:43513400-43514200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:43513400-43514200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:43513400-43514200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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