Variant report

Variant	rs267731
Chromosome Location	chr1:150955582-150955583
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	chr1:150954755..150957126-chr1:150972520..150975361,2	K562	blood:
2	chr1:150951645..150956254-chr1:150963775..150970753,11	MCF-7	breast:
3	chr1:150955422..150957102-chr1:151020210..151022456,2	K562	blood:
4	chr1:150954707..150956253-chr1:151031263..151032998,2	MCF-7	breast:
5	chr1:150954595..150956267-chr1:150977879..150980277,2	K562	blood:
6	chr1:150532778..150534728-chr1:150954324..150956045,2	MCF-7	breast:
7	chr1:150533380..150535959-chr1:150953578..150956750,3	MCF-7	breast:
8	chr1:150951084..150953153-chr1:150955362..150957239,2	K562	blood:
9	chr1:150952182..150958148-chr1:150976816..150982947,12	MCF-7	breast:
10	chr1:150954083..150955944-chr1:151254218..151255800,2	MCF-7	breast:
11	chr1:150953971..150955993-chr7:99715179..99717200,2	MCF-7	breast:
12	chr1:149856818..149859748-chr1:150952737..150955704,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184678	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000106290	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000143443	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000197622	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10305739	1.00[AFR][1000 genomes]
rs10305742	1.00[AFR][1000 genomes]
rs525676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61751620	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv522317	chr1:150933723-150974162	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150952000-150968000	Weak transcription	Spleen	Spleen
2	chr1:150952600-150957800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:150952600-150960800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:150952600-150968000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:150953200-150956200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:150953200-150956200	Enhancers	Fetal Intestine Large	intestine
7	chr1:150953200-150956200	Enhancers	HMEC	breast
8	chr1:150953600-150955800	Enhancers	Fetal Intestine Small	intestine
9	chr1:150953600-150955800	Flanking Active TSS	HepG2	liver
10	chr1:150953600-150959000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:150953800-150955600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr1:150954000-150955600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:150954200-150969400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:150954400-150957600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:150954600-150955600	Enhancers	Hela-S3	cervix
16	chr1:150954600-150956400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:150954600-150957800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:150954800-150968000	Weak transcription	Fetal Kidney	kidney
19	chr1:150955000-150955600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:150955000-150969400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:150955200-150955800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:150955200-150955800	Active TSS	Esophagus	oesophagus
23	chr1:150955200-150957600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:150955400-150955800	Active TSS	Pancreas	Pancrea
25	chr1:150955400-150956200	Enhancers	Liver	Liver
26	chr1:150955400-150957200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:150955400-150957400	Weak transcription	K562	blood
28	chr1:150955400-150957800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:150955400-150957800	Weak transcription	A549	lung
30	chr1:150955400-150969400	Weak transcription	Gastric	stomach
31	chr1:150955400-150970400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:150955400-150978800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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