Variant report

Variant	rs61549491
Chromosome Location	chr4:75240170-75240171
allele	A/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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:75240033..75240970-chr4:75586705..75587839,4	MCF-7	breast:
2	chr4:75239196..75243230-chr4:75546386..75550750,8	MCF-7	breast:
3	chr4:75237376..75245686-chr4:75542486..75553167,38	MCF-7	breast:
4	chr4:75238775..75245761-chr4:75502353..75511633,27	MCF-7	breast:
5	chr4:75231359..75240256-chr4:75240969..75248990,20	K562	blood:
6	chr4:75238903..75241621-chr4:75337215..75339226,2	MCF-7	breast:
7	chr4:75240138..75240716-chr4:75543495..75544207,2	MCF-7	breast:
8	chr4:75240090..75242740-chr4:75399086..75401554,3	MCF-7	breast:
9	chr4:75223774..75226468-chr4:75239260..75241407,2	MCF-7	breast:
10	chr4:75239500..75243798-chr4:75584318..75589677,7	MCF-7	breast:
11	chr4:75188724..75190900-chr4:75238906..75240715,2	MCF-7	breast:
12	chr4:75186018..75191874-chr4:75238287..75242590,7	MCF-7	breast:
13	chr4:75237356..75240485-chr4:75242482..75245521,3	MCF-7	breast:
14	chr4:75237783..75245297-chr4:75502226..75511466,15	MCF-7	breast:
15	chr4:75238241..75243547-chr4:75594980..75599981,10	MCF-7	breast:
16	chr4:75240046..75244737-chr4:75409045..75413612,10	MCF-7	breast:
17	chr4:75230389..75234237-chr4:75240009..75242605,3	MCF-7	breast:
18	chr4:75239348..75243782-chr4:75542387..75546294,5	MCF-7	breast:
19	chr4:75234462..75244182-chr4:75405315..75413749,23	MCF-7	breast:
20	chr4:75239074..75242686-chr4:75590934..75594340,4	MCF-7	breast:
21	chr4:75234009..75245794-chr4:75391033..75405138,38	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124882	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10518126	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1460015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4694680	0.82[AFR][1000 genomes]
rs57346142	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57839099	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57933408	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59107719	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59690065	0.82[ASN][1000 genomes]
rs60611827	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60972393	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61476105	0.82[ASN][1000 genomes]
rs61597562	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61684000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6831666	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6836436	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6837909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72859325	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72859327	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72859333	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72859334	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72859338	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72859361	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72859363	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72859366	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7669104	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7669542	0.82[ASN][1000 genomes]
rs7674887	0.82[ASN][1000 genomes]
rs7675690	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7690224	0.82[ASN][1000 genomes]
rs7690629	0.82[ASN][1000 genomes]
rs7696072	0.82[ASN][1000 genomes]
rs7697009	0.82[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	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1009099	chr4:75089233-75726206	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75237000-75241400	Weak transcription	Fetal Intestine Large	intestine
2	chr4:75237600-75240600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:75239400-75241400	Genic enhancers	NHEK	skin
4	chr4:75239600-75240200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:75239600-75240200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:75239600-75240200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr4:75239600-75240200	Transcr. at gene 5' and 3'	A549	lung
8	chr4:75239600-75240600	Enhancers	Hela-S3	cervix
9	chr4:75239600-75240800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr4:75239600-75240800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:75239600-75241000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr4:75239600-75241200	Enhancers	Osteobl	bone
13	chr4:75239600-75242000	Enhancers	HMEC	breast
14	chr4:75239600-75242200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:75239800-75240800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:75239800-75240800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:75239800-75240800	Enhancers	NH-A	brain
18	chr4:75239800-75241000	Enhancers	HSMM	muscle
19	chr4:75239800-75243600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:75240000-75240200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr4:75240000-75240400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:75240000-75240400	Enhancers	Esophagus	oesophagus
23	chr4:75240000-75240400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr4:75240000-75240400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr4:75240000-75240600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:75240000-75240600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:75240000-75240600	Strong transcription	Fetal Intestine Small	intestine
28	chr4:75240000-75240600	Enhancers	NHDF-Ad	bronchial
29	chr4:75240000-75240800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:75240000-75241000	Enhancers	HUVEC	blood vessel
31	chr4:75240000-75242400	Enhancers	Stomach Mucosa	stomach

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