Variant report

Variant	rs28473744
Chromosome Location	chr5:127297713-127297714
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	chr5:127294744..127297859-chr5:127418074..127420896,5	MCF-7	breast:
2	chr5:127292969..127298749-chr5:127417448..127421101,7	MCF-7	breast:
3	chr5:127296445..127298165-chr5:127301266..127303118,2	MCF-7	breast:
4	chr5:127216714..127218320-chr5:127295438..127298339,2	MCF-7	breast:
5	chr5:127291358..127294527-chr5:127295144..127299558,4	K562	blood:
6	chr5:127270492..127273493-chr5:127297506..127299979,3	MCF-7	breast:
7	chr5:127288319..127291284-chr5:127297220..127300429,3	K562	blood:
8	chr5:127296452..127298313-chr5:127306696..127308736,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000245937	Chromatin interaction
ENSG00000230561	Chromatin interaction
ENSG00000064651	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10037914	0.95[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10065448	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10074995	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10079317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10463834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10900794	0.92[ASN][1000 genomes]
rs11740438	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11740439	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11741283	0.92[ASN][1000 genomes]
rs12517005	0.92[ASN][1000 genomes]
rs12653621	0.84[ASN][1000 genomes]
rs12658023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13361741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286386	0.82[ASN][1000 genomes]
rs2409037	0.92[ASN][1000 genomes]
rs28542972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28567046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28591675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28636438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28687461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28736542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28816429	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55896045	0.92[ASN][1000 genomes]
rs6877403	0.92[ASN][1000 genomes]
rs6898956	0.92[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127285800-127303800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr5:127290600-127332000	Weak transcription	Aorta	Aorta
3	chr5:127292600-127298400	Enhancers	Fetal Intestine Large	intestine
4	chr5:127292600-127298600	Enhancers	Fetal Intestine Small	intestine
5	chr5:127292800-127297800	Enhancers	HUVEC	blood vessel
6	chr5:127292800-127298400	Enhancers	Fetal Heart	heart
7	chr5:127292800-127314400	Weak transcription	Pancreas	Pancrea
8	chr5:127293000-127298600	Enhancers	Stomach Mucosa	stomach
9	chr5:127293200-127301800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:127293200-127301800	Weak transcription	Ovary	ovary
11	chr5:127293200-127303600	Weak transcription	Esophagus	oesophagus
12	chr5:127293600-127301800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:127294400-127302800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:127295000-127297800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:127295000-127297800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:127295000-127298000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr5:127295000-127298400	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr5:127295200-127297800	Enhancers	Primary T cells from cord blood	blood
19	chr5:127295200-127298400	Enhancers	Small Intestine	intestine
20	chr5:127295200-127298600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr5:127295400-127297800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr5:127295400-127298000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr5:127295600-127297800	Enhancers	HSMMtube	muscle
24	chr5:127295600-127302600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:127295600-127304400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:127295800-127301800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:127295800-127322800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:127296000-127299400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:127296000-127301800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr5:127296200-127298400	Enhancers	Right Ventricle	heart
31	chr5:127296200-127298600	Enhancers	Duodenum Mucosa	Duodenum
32	chr5:127296200-127299200	Weak transcription	NHDF-Ad	bronchial
33	chr5:127296200-127301000	Weak transcription	GM12878-XiMat	blood
34	chr5:127296200-127301800	Weak transcription	Fetal Stomach	stomach
35	chr5:127296200-127303000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:127296200-127303800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:127296200-127304800	Weak transcription	Brain Substantia Nigra	brain
38	chr5:127296200-127306000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:127296200-127307200	Weak transcription	NHLF	lung
40	chr5:127296200-127322600	Weak transcription	Colon Smooth Muscle	Colon
41	chr5:127296400-127301800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr5:127296400-127301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:127296400-127302800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:127296400-127302800	Weak transcription	Colonic Mucosa	Colon
45	chr5:127296400-127302800	Weak transcription	HMEC	breast
46	chr5:127296400-127302800	Weak transcription	NHEK	skin
47	chr5:127296400-127303000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr5:127296400-127303800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr5:127296400-127304000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:127296400-127304200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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