Variant report

Variant	rs3014848
Chromosome Location	chr1:153457385-153457386
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: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	chr1:153442375..153445170-chr1:153456426..153458929,2	MCF-7	breast:
2	chr1:153432889..153435323-chr1:153456139..153457737,2	MCF-7	breast:
3	chr1:153323483..153340048-chr1:153448254..153469845,61	MCF-7	breast:
4	chr1:153367009..153368544-chr1:153456624..153459819,3	MCF-7	breast:
5	chr1:153447398..153450153-chr1:153455745..153457768,2	MCF-7	breast:
6	chr1:153320974..153341807-chr1:153456098..153486349,81	MCF-7	breast:
7	chr1:153455880..153459414-chr1:153459858..153461522,3	MCF-7	breast:
8	chr1:153450588..153453299-chr1:153453645..153457534,3	MCF-7	breast:
9	chr1:153342148..153344034-chr1:153456102..153458087,3	MCF-7	breast:
10	chr1:153435205..153438006-chr1:153456451..153458680,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163218	Chromatin interaction
ENSG00000143556	Chromatin interaction
ENSG00000163220	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10888560	0.84[CHB][hapmap]
rs11205297	0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs12021612	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12022550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12024114	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12025638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12036701	0.85[CHB][hapmap]
rs12043280	0.88[JPT][hapmap]
rs12044034	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12047203	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12047494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12217109	0.88[JPT][hapmap]
rs16835308	0.84[CHB][hapmap]
rs16835332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16835339	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2339695	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28696717	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2986209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3006414	0.84[CHB][hapmap]
rs3006423	0.84[CHB][hapmap]
rs3014814	0.85[CHB][hapmap]
rs3014818	0.84[CHB][hapmap]
rs3014822	0.84[CHB][hapmap]
rs3014823	0.84[CHB][hapmap]
rs4845348	0.84[CHB][hapmap]
rs55703007	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56009204	0.89[ASN][1000 genomes]
rs72708789	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
6	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153451000-153467400	Weak transcription	Ovary	ovary
2	chr1:153455400-153462200	Weak transcription	Right Ventricle	heart
3	chr1:153456200-153457400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:153456200-153457400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:153456200-153457600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr1:153456400-153457400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:153456400-153458400	Enhancers	Esophagus	oesophagus
8	chr1:153456800-153461400	Weak transcription	Hela-S3	cervix
9	chr1:153457200-153457600	Weak transcription	Fetal Heart	heart
10	chr1:153457200-153458800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:153457200-153460200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:153457200-153461000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:153457200-153462600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:153457200-153465800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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