Variant report

Variant	rs73110739
Chromosome Location	chr1:228202573-228202574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228200861..228203329-chr1:228205656..228207214,2	MCF-7	breast:
2	chr1:228193376..228197148-chr1:228201050..228204758,3	K562	blood:
3	chr1:228193016..228195089-chr1:228200494..228203250,2	K562	blood:
4	chr1:228199664..228202936-chr1:228261979..228265639,3	MCF-7	breast:
5	chr1:228201206..228204179-chr1:228209528..228212041,2	MCF-7	breast:
6	chr1:228191411..228193255-chr1:228202404..228204319,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154342	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2231720	1.00[AFR][1000 genomes]
rs56921575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57053910	0.86[AFR][1000 genomes]
rs57114383	1.00[AMR][1000 genomes]
rs61413658	0.86[AFR][1000 genomes]
rs61537173	1.00[AMR][1000 genomes]
rs6694537	1.00[AFR][1000 genomes]
rs6704401	0.86[AFR][1000 genomes]
rs73092923	1.00[AFR][1000 genomes]
rs73092944	1.00[AFR][1000 genomes]
rs73092954	1.00[AFR][1000 genomes]
rs73095454	1.00[AMR][1000 genomes]
rs73095475	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097306	1.00[AMR][1000 genomes]
rs73097318	1.00[AMR][1000 genomes]
rs73110726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73110775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
7	nsv947387	chr1:228140028-228206630	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	nsv945349	chr1:228186556-228245135	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228195200-228213200	Weak transcription	Right Atrium	heart
2	chr1:228200000-228203200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:228200600-228203200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:228200600-228203800	Enhancers	HMEC	breast
5	chr1:228200800-228202600	Enhancers	Esophagus	oesophagus
6	chr1:228201000-228202600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:228201000-228203600	Enhancers	HSMM	muscle
8	chr1:228201400-228203000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr1:228201600-228203400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:228202000-228203200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:228202200-228202600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:228202200-228202600	Enhancers	Brain Anterior Caudate	brain
13	chr1:228202200-228203200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:228202200-228203200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:228202200-228203400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:228202200-228203400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr1:228202200-228203400	Enhancers	Fetal Muscle Leg	muscle
18	chr1:228202400-228202600	Flanking Active TSS	HSMMtube	muscle
19	chr1:228202400-228202800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:228202400-228202800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:228202400-228203000	Enhancers	NHLF	lung
22	chr1:228202400-228203200	Flanking Active TSS	NHEK	skin
23	chr1:228202400-228203200	Enhancers	Osteobl	bone
24	chr1:228202400-228203400	Enhancers	NHDF-Ad	bronchial
25	chr1:228202400-228203800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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