Variant report

Variant	rs4845727
Chromosome Location	chr1:151974002-151974003
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151972354..151974327-chr1:152005539..152008524,2	K562	blood:
2	chr1:151890687..151893442-chr1:151973018..151975930,2	MCF-7	breast:
3	chr1:151907075..151908631-chr1:151973771..151976149,2	MCF-7	breast:
4	chr1:151973932..151974613-chr1:151985782..151987112,4	MCF-7	breast:
5	chr1:151938172..151938909-chr1:151973910..151974443,2	K562	blood:
6	chr1:151939119..151942240-chr1:151972408..151975216,4	K562	blood:
7	chr1:151972758..151974972-chr1:151986628..151989448,2	K562	blood:
8	chr1:109234069..109236515-chr1:151971983..151974186,2	MCF-7	breast:
9	chr1:151940172..151941244-chr1:151973793..151974812,6	K562	blood:
10	chr1:151905433..151907106-chr1:151973181..151975344,18	MCF-7	breast:
11	chr1:151958520..151979218-chr1:151992734..152014750,97	MCF-7	breast:
12	chr1:151906178..151906705-chr1:151973915..151974895,2	K562	blood:
13	chr1:151941408..151942401-chr1:151973915..151974457,2	K562	blood:
14	chr1:151906449..151907188-chr1:151973919..151974888,5	MCF-7	breast:
15	chr1:151859983..151860860-chr1:151973969..151974533,2	MCF-7	breast:
16	chr1:151861515..151862096-chr1:151973987..151974810,3	MCF-7	breast:
17	chr1:151940175..151941918-chr1:151973877..151975421,25	MCF-7	breast:
18	chr1:151940130..151941674-chr1:151973866..151975241,10	MCF-7	breast:
19	chr1:151879889..151882553-chr1:151972066..151974535,2	MCF-7	breast:
20	chr1:151823821..151827198-chr1:151970881..151974396,3	MCF-7	breast:
21	chr1:151860890..151862154-chr1:151973910..151974830,5	MCF-7	breast:
22	chr1:151973957..151974462-chr1:152025316..152025829,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000159445	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000196407	Chromatin interaction
ENSG00000134186	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1038745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41264560	1.00[AMR][1000 genomes]
rs41265240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4845417	1.00[AMR][1000 genomes]
rs4845720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4845721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4845722	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4845723	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4845724	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4845725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4845726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151966800-151976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:151967000-151977000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:151967200-151977000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:151967800-151977200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:151971000-151974400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:151972000-151974200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:151972400-151974400	Enhancers	A549	lung
8	chr1:151972600-151974400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr1:151972800-151975000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:151973000-151974200	Enhancers	Adipose Nuclei	Adipose
11	chr1:151973000-151974200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:151973000-151975600	Weak transcription	Esophagus	oesophagus
13	chr1:151973000-151976800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:151973200-151974200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:151973200-151974200	Enhancers	Colon Smooth Muscle	Colon
16	chr1:151973200-151974400	Enhancers	Brain Hippocampus Middle	brain
17	chr1:151973200-151975000	Enhancers	Hela-S3	cervix
18	chr1:151973200-151976200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:151973400-151974400	Enhancers	HepG2	liver
20	chr1:151973400-151975000	Enhancers	NHLF	lung
21	chr1:151973600-151974200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:151973600-151974200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr1:151973600-151974200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:151973600-151974200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:151973600-151974200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:151973600-151974200	Flanking Active TSS	NHDF-Ad	bronchial
27	chr1:151973600-151974200	Flanking Active TSS	NHEK	skin
28	chr1:151973600-151974400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:151973600-151974400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr1:151973600-151974600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:151973600-151974600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:151973600-151975800	Enhancers	HSMM	muscle
33	chr1:151973800-151974200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr1:151973800-151974200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr1:151973800-151974200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr1:151973800-151974200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:151973800-151974200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:151973800-151974200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:151973800-151974200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:151973800-151974200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:151973800-151974200	Enhancers	Rectal Smooth Muscle	rectum
42	chr1:151973800-151974200	Enhancers	NH-A	brain
43	chr1:151973800-151974200	Flanking Active TSS	Osteobl	bone
44	chr1:151973800-151974400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:151973800-151974400	Enhancers	Brain Substantia Nigra	brain
46	chr1:151973800-151974400	Enhancers	Colonic Mucosa	Colon
47	chr1:151973800-151974400	Enhancers	Placenta	Placenta
48	chr1:151973800-151974400	Enhancers	Stomach Mucosa	stomach
49	chr1:151973800-151974600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:151973800-151974600	Enhancers	Brain Angular Gyrus	brain

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