Variant report

Variant	rs61124407
Chromosome Location	chr2:111499652-111499653
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:111490011..111491520-chr2:111498190..111500275,2	MCF-7	breast:
2	chr2:111498603..111500959-chr2:111504381..111506706,2	MCF-7	breast:
3	chr2:111498014..111500749-chr2:111501269..111504012,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153093	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs13421709	0.84[ASN][1000 genomes]
rs17041539	0.82[EUR][1000 genomes]
rs17041553	0.82[EUR][1000 genomes]
rs17041554	0.82[EUR][1000 genomes]
rs17041555	0.82[EUR][1000 genomes]
rs17041561	0.82[EUR][1000 genomes]
rs28452164	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34026418	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3817265	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4255970	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55682108	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55693530	0.80[AFR][1000 genomes]
rs55780486	0.82[EUR][1000 genomes]
rs55849112	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55857945	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55875504	1.00[EUR][1000 genomes]
rs55875530	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55927063	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56010803	0.82[EUR][1000 genomes]
rs56019085	0.89[AFR][1000 genomes]
rs56031628	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56062220	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56110941	1.00[EUR][1000 genomes]
rs56146538	1.00[EUR][1000 genomes]
rs56165253	1.00[EUR][1000 genomes]
rs56169320	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56177778	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56181028	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56202720	0.84[ASN][1000 genomes]
rs56238325	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56260092	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56272335	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56281800	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56289191	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56320021	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57101781	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57166069	0.80[AFR][1000 genomes]
rs57318054	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57431143	0.89[AFR][1000 genomes]
rs57847126	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57862073	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58054304	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58130587	0.89[AFR][1000 genomes]
rs58569659	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58588523	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59258102	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59413237	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59952084	0.80[AFR][1000 genomes]
rs60185821	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60357733	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61203060	0.89[AFR][1000 genomes]
rs61376946	0.82[EUR][1000 genomes]
rs61392982	0.94[AFR][1000 genomes]
rs61637608	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66616139	1.00[EUR][1000 genomes]
rs72828836	0.82[EUR][1000 genomes]
rs72828838	0.82[EUR][1000 genomes]
rs72828843	1.00[EUR][1000 genomes]
rs72828844	1.00[EUR][1000 genomes]
rs72828845	1.00[EUR][1000 genomes]
rs72828846	1.00[EUR][1000 genomes]
rs72828849	1.00[EUR][1000 genomes]
rs72828851	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72828852	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72828854	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72828856	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72828857	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72828859	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72828861	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72830976	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72830979	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72830980	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72830982	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72830984	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72830985	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72830986	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72830989	1.00[EUR][1000 genomes]
rs72830990	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72830993	1.00[EUR][1000 genomes]
rs72830995	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72830996	0.89[AMR][1000 genomes]
rs72830997	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72831000	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72832803	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72832804	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72832809	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72832810	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72832813	1.00[EUR][1000 genomes]
rs72832815	1.00[EUR][1000 genomes]
rs72832816	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72832817	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72832818	1.00[EUR][1000 genomes]
rs72832820	0.82[EUR][1000 genomes]
rs72832821	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72832822	0.82[EUR][1000 genomes]
rs72832824	0.82[EUR][1000 genomes]
rs72832826	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72832828	0.82[EUR][1000 genomes]
rs72832837	0.82[EUR][1000 genomes]
rs72832838	0.82[EUR][1000 genomes]
rs72832839	0.82[EUR][1000 genomes]
rs72832841	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72832842	0.82[EUR][1000 genomes]
rs72832843	0.82[EUR][1000 genomes]
rs72832846	0.82[EUR][1000 genomes]
rs73954672	0.80[AFR][1000 genomes]
rs73956432	0.80[AFR][1000 genomes]
rs73956434	0.94[AFR][1000 genomes]
rs73956437	0.94[AFR][1000 genomes]
rs73956438	0.80[AFR][1000 genomes]
rs73956439	0.94[AFR][1000 genomes]
rs73956441	0.94[AFR][1000 genomes]
rs977406	0.82[EUR][1000 genomes]
rs981196	0.82[EUR][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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers 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	8 gene(s)	inside rSNPs	diseases
3	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:111497000-111499800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:111497200-111499800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:111497800-111500000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:111497800-111500000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:111498000-111500200	Enhancers	Placenta	Placenta
6	chr2:111498200-111499800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr2:111498400-111499800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:111498400-111499800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:111498400-111499800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:111498400-111499800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:111498400-111499800	Enhancers	Fetal Heart	heart
12	chr2:111498400-111500000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:111498400-111500000	Enhancers	HMEC	breast
14	chr2:111498400-111500200	Enhancers	NHEK	skin
15	chr2:111498600-111499800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:111498600-111499800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:111498600-111500000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:111498600-111500000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:111498800-111499800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr2:111498800-111499800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:111498800-111499800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr2:111498800-111499800	Enhancers	NH-A	brain
23	chr2:111499000-111499800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:111499000-111499800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:111499000-111499800	Enhancers	Hela-S3	cervix
26	chr2:111499000-111499800	Enhancers	K562	blood
27	chr2:111499000-111503200	Enhancers	GM12878-XiMat	blood
28	chr2:111499200-111499800	Enhancers	Fetal Thymus	thymus
29	chr2:111499600-111499800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:111499600-111499800	Enhancers	Lung	lung
31	chr2:111499600-111499800	Flanking Active TSS	Dnd41	blood
32	chr2:111499600-111500000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:111499600-111500800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr2:111499600-111501200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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