Variant report

Variant	rs72957792
Chromosome Location	chr4:148820516-148820517
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148812422..148814436-chr4:148818946..148820969,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10010996	1.00[EUR][1000 genomes]
rs10012122	1.00[EUR][1000 genomes]
rs10213616	1.00[EUR][1000 genomes]
rs10519932	1.00[EUR][1000 genomes]
rs1436492	1.00[EUR][1000 genomes]
rs17023827	1.00[EUR][1000 genomes]
rs17023950	1.00[EUR][1000 genomes]
rs17023959	1.00[EUR][1000 genomes]
rs17024108	1.00[EUR][1000 genomes]
rs17024163	1.00[EUR][1000 genomes]
rs28371967	1.00[EUR][1000 genomes]
rs41435251	1.00[EUR][1000 genomes]
rs55689306	1.00[EUR][1000 genomes]
rs56742479	1.00[EUR][1000 genomes]
rs58776118	1.00[EUR][1000 genomes]
rs59129054	1.00[EUR][1000 genomes]
rs59222333	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59845678	1.00[EUR][1000 genomes]
rs6813344	1.00[EUR][1000 genomes]
rs6815620	1.00[EUR][1000 genomes]
rs6848211	1.00[EUR][1000 genomes]
rs72957764	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72957767	1.00[EUR][1000 genomes]
rs731989	1.00[EUR][1000 genomes]
rs73853711	1.00[EUR][1000 genomes]
rs7661589	1.00[EUR][1000 genomes]
rs7663257	1.00[EUR][1000 genomes]
rs7699281	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1017904	chr4:148814133-148975348	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148777000-148823000	Weak transcription	Small Intestine	intestine
2	chr4:148786000-148861400	Weak transcription	Pancreas	Pancrea
3	chr4:148794800-148824600	Weak transcription	A549	lung
4	chr4:148796800-148863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:148796800-148866000	Weak transcription	Thymus	Thymus
6	chr4:148797000-148834200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:148797000-148835800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:148797400-148879600	Weak transcription	Gastric	stomach
9	chr4:148797600-148824600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:148801800-148830200	Weak transcription	NHEK	skin
11	chr4:148804600-148854400	Weak transcription	Psoas Muscle	Psoas
12	chr4:148805200-148824200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:148806200-148824200	Weak transcription	HSMMtube	muscle
14	chr4:148806400-148824200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:148806600-148823200	Weak transcription	Fetal Stomach	stomach
16	chr4:148806600-148824200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:148806800-148821000	Weak transcription	NHLF	lung
18	chr4:148807200-148824000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:148809200-148824200	Weak transcription	Lung	lung
20	chr4:148810200-148824800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:148810400-148824200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:148810600-148829800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr4:148813600-148824600	Weak transcription	Fetal Kidney	kidney
24	chr4:148813600-148827400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:148814200-148822600	Weak transcription	HSMM	muscle
26	chr4:148814200-148824000	Weak transcription	Aorta	Aorta
27	chr4:148815600-148827200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:148816000-148820600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr4:148816000-148824200	Weak transcription	Adipose Nuclei	Adipose
30	chr4:148816200-148821000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:148816800-148823000	Weak transcription	Fetal Muscle Leg	muscle
32	chr4:148817000-148824200	Weak transcription	Fetal Intestine Small	intestine
33	chr4:148817000-148827600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:148817200-148824200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:148819800-148820600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:148820000-148820600	Enhancers	Esophagus	oesophagus
37	chr4:148820000-148820600	Enhancers	Ovary	ovary
38	chr4:148820000-148820600	Enhancers	Right Ventricle	heart
39	chr4:148820000-148822000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:148820200-148820600	Enhancers	Left Ventricle	heart
41	chr4:148820200-148823000	Enhancers	Osteobl	bone
42	chr4:148820200-148823600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:148820200-148823600	Enhancers	NHDF-Ad	bronchial
44	chr4:148820400-148820600	Weak transcription	Colon Smooth Muscle	Colon
45	chr4:148820400-148821600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:148820400-148822600	Weak transcription	GM12878-XiMat	blood
47	chr4:148820400-148823600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr4:148820400-148824200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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