Variant report

Variant	rs72958778
Chromosome Location	chr3:120137857-120137858
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:120137528..120138028-chr3:120225631..120226256,2	MCF-7	breast:
2	chr3:120135734..120138028-chr3:120174472..120177330,2	MCF-7	breast:
3	chr3:120137539..120138449-chr3:120279703..120280766,4	MCF-7	breast:
4	chr3:120137533..120138349-chr3:120225772..120226707,4	MCF-7	breast:
5	chr3:120137478..120138354-chr3:120161073..120162380,5	MCF-7	breast:
6	chr3:120136391..120139340-chr3:120276034..120279006,3	MCF-7	breast:
7	chr3:120137423..120138991-chr3:120276678..120279072,31	MCF-7	breast:
8	chr3:120137444..120138878-chr3:120277379..120278358,9	MCF-7	breast:
9	chr3:120136351..120139286-chr3:120156446..120159592,3	MCF-7	breast:
10	chr3:120137474..120137985-chr3:120286289..120287018,2	MCF-7	breast:

No data

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs41271405	1.00[EUR][1000 genomes]
rs55640624	1.00[EUR][1000 genomes]
rs55885326	1.00[EUR][1000 genomes]
rs56239327	1.00[EUR][1000 genomes]
rs56281929	1.00[EUR][1000 genomes]
rs56384860	1.00[EUR][1000 genomes]
rs58174591	1.00[EUR][1000 genomes]
rs58296615	1.00[EUR][1000 genomes]
rs58932850	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59522791	1.00[EUR][1000 genomes]
rs59766787	1.00[EUR][1000 genomes]
rs59779647	1.00[EUR][1000 genomes]
rs60136263	1.00[EUR][1000 genomes]
rs60814807	1.00[EUR][1000 genomes]
rs61160321	1.00[EUR][1000 genomes]
rs61535593	1.00[EUR][1000 genomes]
rs6764372	1.00[EUR][1000 genomes]
rs72956853	1.00[EUR][1000 genomes]
rs72956859	1.00[EUR][1000 genomes]
rs72956861	1.00[EUR][1000 genomes]
rs72956897	1.00[EUR][1000 genomes]
rs72958712	1.00[EUR][1000 genomes]
rs72958714	1.00[EUR][1000 genomes]
rs73855206	1.00[EUR][1000 genomes]
rs73855223	1.00[EUR][1000 genomes]
rs73855241	1.00[EUR][1000 genomes]
rs73856465	1.00[EUR][1000 genomes]
rs73856468	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120114400-120143200	Weak transcription	Small Intestine	intestine
2	chr3:120115800-120151000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:120135400-120139400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:120135400-120151600	Genic enhancers	Osteobl	bone
5	chr3:120135600-120141600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:120135800-120138200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:120135800-120138200	Enhancers	Stomach Mucosa	stomach
8	chr3:120135800-120138600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr3:120136200-120138000	Weak transcription	Esophagus	oesophagus
10	chr3:120136600-120138200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr3:120136600-120138200	Enhancers	NH-A	brain
12	chr3:120136800-120138000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:120136800-120138200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:120136800-120138200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr3:120136800-120138200	Enhancers	Primary hematopoietic stem cells	blood
16	chr3:120136800-120138200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:120136800-120138200	Enhancers	Liver	Liver
18	chr3:120136800-120138200	Enhancers	Duodenum Mucosa	Duodenum
19	chr3:120136800-120138200	Enhancers	Fetal Intestine Large	intestine
20	chr3:120136800-120138200	Enhancers	A549	lung
21	chr3:120136800-120138200	Enhancers	HMEC	breast
22	chr3:120136800-120138200	Enhancers	NHEK	skin
23	chr3:120136800-120138400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:120136800-120138400	Enhancers	Placenta	Placenta
25	chr3:120136800-120138400	Enhancers	Fetal Thymus	thymus
26	chr3:120136800-120138400	Enhancers	NHDF-Ad	bronchial
27	chr3:120136800-120138600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr3:120136800-120138600	Weak transcription	Psoas Muscle	Psoas
29	chr3:120136800-120138800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr3:120136800-120138800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr3:120136800-120139000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr3:120136800-120140000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:120136800-120140200	Weak transcription	Ovary	ovary
34	chr3:120136800-120140800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr3:120136800-120140800	Enhancers	Brain Substantia Nigra	brain
36	chr3:120136800-120140800	Genic enhancers	HSMM	muscle
37	chr3:120136800-120141000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr3:120136800-120141200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:120136800-120141200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr3:120136800-120141200	Enhancers	Brain Angular Gyrus	brain
41	chr3:120136800-120141200	Enhancers	Brain Hippocampus Middle	brain
42	chr3:120136800-120141200	Enhancers	Fetal Lung	lung
43	chr3:120136800-120141600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr3:120136800-120141800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr3:120136800-120141800	Enhancers	Fetal Heart	heart
46	chr3:120136800-120142200	Enhancers	Colon Smooth Muscle	Colon
47	chr3:120136800-120142600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:120136800-120145200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:120136800-120147400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr3:120136800-120147600	Enhancers	Adipose Nuclei	Adipose

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