Variant report

Variant	rs72993637
Chromosome Location	chr1:151972135-151972136
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: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	chr1:151961745..151973594-chr1:152015769..152025096,31	MCF-7	breast:
2	chr1:151940563..151941140-chr1:151971510..151972483,2	MCF-7	breast:
3	chr1:109234069..109236515-chr1:151971983..151974186,2	MCF-7	breast:
4	chr1:151958520..151979218-chr1:151992734..152014750,97	MCF-7	breast:
5	chr1:151905903..151909731-chr1:151970506..151972835,3	MCF-7	breast:
6	chr1:151879889..151882553-chr1:151972066..151974535,2	MCF-7	breast:
7	chr1:151859844..151863422-chr1:151970039..151972808,5	MCF-7	breast:
8	chr1:151823821..151827198-chr1:151970881..151974396,3	MCF-7	breast:

No data

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

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

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

rs_ID	r²[population]
rs6587642	1.00[AFR][1000 genomes]
rs6679547	0.85[AFR][1000 genomes]
rs6690651	0.85[AFR][1000 genomes]
rs72993621	1.00[AFR][1000 genomes]
rs72993627	0.93[AFR][1000 genomes]
rs72993672	0.85[AFR][1000 genomes]
rs72993673	0.85[AFR][1000 genomes]
rs72993675	0.84[AFR][1000 genomes]
rs73007992	0.85[AFR][1000 genomes]
rs73007999	0.85[AFR][1000 genomes]
rs73009645	0.85[AFR][1000 genomes]
rs73009654	0.85[AFR][1000 genomes]
rs73009658	0.85[AFR][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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151966800-151976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:151967000-151973000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:151967000-151977000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:151967200-151973200	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:151967200-151974000	Enhancers	HMEC	breast
6	chr1:151967200-151977000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:151967800-151973600	Enhancers	NHEK	skin
8	chr1:151967800-151973800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:151967800-151977200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:151968000-151973000	Weak transcription	Adipose Nuclei	Adipose
11	chr1:151968200-151973000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:151968200-151973200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:151968200-151973400	Weak transcription	HepG2	liver
14	chr1:151968200-151973400	Weak transcription	Osteobl	bone
15	chr1:151968200-151973600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:151968400-151972800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:151968600-151973600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:151968600-151973600	Weak transcription	HSMM	muscle
19	chr1:151968800-151973800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:151969400-151973800	Weak transcription	Placenta	Placenta
21	chr1:151970200-151972600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:151970200-151973000	Weak transcription	NHDF-Ad	bronchial
23	chr1:151970600-151972800	Enhancers	Hela-S3	cervix
24	chr1:151970800-151972400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:151971000-151972400	Enhancers	Fetal Intestine Large	intestine
26	chr1:151971000-151974400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:151971400-151972200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:151971400-151972200	Enhancers	Fetal Intestine Small	intestine
29	chr1:151971600-151972400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr1:151971600-151972400	Flanking Active TSS	A549	lung
31	chr1:151971800-151973000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:151971800-151973600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:151971800-151973600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:151972000-151972200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr1:151972000-151972400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:151972000-151973000	Enhancers	Esophagus	oesophagus
37	chr1:151972000-151973200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:151972000-151973200	Weak transcription	Stomach Mucosa	stomach
39	chr1:151972000-151974200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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