Variant report

Variant	rs4845725
Chromosome Location	chr1:151973800-151973801
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 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	chr1:151939119..151942240-chr1:151972408..151975216,4	K562	blood:
5	chr1:151972758..151974972-chr1:151986628..151989448,2	K562	blood:
6	chr1:151939365..151942240-chr1:151972408..151973945,2	K562	blood:
7	chr1:109234069..109236515-chr1:151971983..151974186,2	MCF-7	breast:
8	chr1:151940172..151941244-chr1:151973793..151974812,6	K562	blood:
9	chr1:151905433..151907106-chr1:151973181..151975344,18	MCF-7	breast:
10	chr1:151958520..151979218-chr1:151992734..152014750,97	MCF-7	breast:
11	chr1:151879889..151882553-chr1:151972066..151974535,2	MCF-7	breast:
12	chr1:151823821..151827198-chr1:151970881..151974396,3	MCF-7	breast:

No data

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

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1038745	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16833741	1.00[CHD][hapmap]
rs16833782	1.00[ASN][1000 genomes]
rs41264560	1.00[AMR][1000 genomes]
rs41265240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845417	1.00[AMR][1000 genomes]
rs4845720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845722	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845723	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845724	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845727	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:71 , 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	chr1:151967200-151974000	Enhancers	HMEC	breast
4	chr1:151967200-151977000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:151967800-151973800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:151967800-151977200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:151968800-151973800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:151969400-151973800	Weak transcription	Placenta	Placenta
9	chr1:151971000-151974400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:151972000-151974200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:151972200-151973800	Weak transcription	Fetal Intestine Small	intestine
12	chr1:151972400-151973800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:151972400-151973800	Weak transcription	Fetal Intestine Large	intestine
14	chr1:151972400-151974400	Enhancers	A549	lung
15	chr1:151972600-151973800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:151972600-151973800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:151972600-151974400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr1:151972800-151975000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:151973000-151974000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr1:151973000-151974000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:151973000-151974200	Enhancers	Adipose Nuclei	Adipose
22	chr1:151973000-151974200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:151973000-151975600	Weak transcription	Esophagus	oesophagus
24	chr1:151973000-151976800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:151973200-151973800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:151973200-151973800	Weak transcription	Colonic Mucosa	Colon
27	chr1:151973200-151974000	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr1:151973200-151974200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:151973200-151974200	Enhancers	Colon Smooth Muscle	Colon
30	chr1:151973200-151974400	Enhancers	Brain Hippocampus Middle	brain
31	chr1:151973200-151975000	Enhancers	Hela-S3	cervix
32	chr1:151973200-151976200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:151973400-151973800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:151973400-151973800	Weak transcription	Stomach Mucosa	stomach
35	chr1:151973400-151973800	Enhancers	Osteobl	bone
36	chr1:151973400-151974400	Enhancers	HepG2	liver
37	chr1:151973400-151975000	Enhancers	NHLF	lung
38	chr1:151973600-151974200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:151973600-151974200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr1:151973600-151974200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr1:151973600-151974200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:151973600-151974200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:151973600-151974200	Flanking Active TSS	NHDF-Ad	bronchial
44	chr1:151973600-151974200	Flanking Active TSS	NHEK	skin
45	chr1:151973600-151974400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr1:151973600-151974400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr1:151973600-151974600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:151973600-151974600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:151973600-151975800	Enhancers	HSMM	muscle
50	chr1:151973800-151974200	Enhancers	H9 Cell Line	embryonic stem cell

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