Variant report

Variant	rs357077
Chromosome Location	chr1:180219170-180219171
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180197450..180200103-chr1:180218151..180221090,2	MCF-7	breast:
2	chr1:180197757..180200322-chr1:180217302..180220148,2	K562	blood:

Variant related genes	Relation type
ENSG00000121454	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12407014	0.94[ASN][1000 genomes]
rs164982	0.91[ASN][1000 genomes]
rs165257	0.93[ASN][1000 genomes]
rs355615	0.89[ASN][1000 genomes]
rs355627	0.89[ASN][1000 genomes]
rs355632	0.95[ASN][1000 genomes]
rs355633	0.94[ASN][1000 genomes]
rs355636	0.95[ASN][1000 genomes]
rs357069	0.97[ASN][1000 genomes]
rs357074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4652492	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6425617	0.96[ASN][1000 genomes]
rs7529839	0.91[ASN][1000 genomes]
rs7539240	0.94[ASN][1000 genomes]
rs7539244	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv497930	chr1:180031321-180220723	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv916937	chr1:180031328-180220685	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1007590	chr1:180121480-180236452	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv999104	chr1:180121480-180242659	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1002133	chr1:180127036-180230081	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh 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	16 gene(s)	inside rSNPs	diseases
8	nsv999182	chr1:180127616-180236452	Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv1005512	chr1:180127616-180242659	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv832004	chr1:180128502-180335540	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv1012145	chr1:180132688-180236452	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv466239	chr1:180145978-180268476	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
13	nsv548345	chr1:180145978-180268476	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv1005073	chr1:180152550-180250783	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
15	nsv535219	chr1:180152550-180250783	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	nsv1001477	chr1:180172903-180298287	Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv535220	chr1:180172903-180298287	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv498075	chr1:180179441-180278544	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
19	nsv872575	chr1:180186713-180238243	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
20	nsv1013076	chr1:180214152-180239670	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180213600-180225800	Weak transcription	Right Atrium	heart
2	chr1:180216400-180221600	Weak transcription	A549	lung
3	chr1:180216600-180221600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:180217000-180221600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:180217400-180222000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:180217600-180219400	Enhancers	HSMMtube	muscle
7	chr1:180217600-180222800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:180218000-180219200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr1:180218400-180219200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:180218400-180219200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:180218400-180219600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:180218400-180221400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:180218600-180219200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:180218600-180219200	Bivalent Enhancer	K562	blood
15	chr1:180218600-180220000	Enhancers	HSMM	muscle
16	chr1:180218800-180219200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr1:180218800-180219200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:180218800-180219200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:180218800-180219200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:180218800-180219200	Bivalent Enhancer	Fetal Brain Male	brain
21	chr1:180218800-180219200	Flanking Active TSS	HepG2	liver
22	chr1:180218800-180219800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:180218800-180219800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:180219000-180219200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:180219000-180219200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:180219000-180219200	Bivalent Enhancer	Fetal Lung	lung
27	chr1:180219000-180219200	Enhancers	Gastric	stomach
28	chr1:180219000-180219600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:180219000-180219600	Enhancers	HUVEC	blood vessel
30	chr1:180219000-180219800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr1:180219000-180219800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:180219000-180220000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:180219000-180221200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:180219000-180222000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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