Variant report

Variant	rs4572349
Chromosome Location	chr15:83878129-83878130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr15:83878096-83878418	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr15:83878083-83878464	H1-hESC	embryonic stem cell:	n/a	chr15:83878314-83878324 chr15:83878312-83878331
3	CTCF	chr15:83878089-83878399	H1-hESC	embryonic stem cell:	n/a	chr15:83878311-83878329
4	MAZ	chr15:83878089-83878427	K562	blood:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83680783..83683197-chr15:83876059..83879037,3	K562	blood:
2	chr15:83834964..83840588-chr15:83874121..83878306,6	MCF-7	breast:
3	chr1:192995946..192996514-chr15:83878116..83878651,2	MCF-7	breast:
4	chr15:83877096..83880148-chr15:83900858..83903461,3	MCF-7	breast:
5	chr15:83733142..83737236-chr15:83872525..83879828,15	MCF-7	breast:
6	chr15:83878009..83879789-chr15:83915705..83918184,3	MCF-7	breast:
7	chr15:83678154..83684518-chr15:83871554..83879371,12	MCF-7	breast:
8	chr15:83847714..83850048-chr15:83876536..83879465,3	MCF-7	breast:
9	chr15:83825858..83828355-chr15:83876251..83878131,2	MCF-7	breast:
10	chr15:83678260..83683197-chr15:83874959..83878158,5	K562	blood:
11	chr15:83734393..83737227-chr15:83876568..83879136,2	K562	blood:
12	chr15:83706535..83711494-chr15:83875161..83878411,4	MCF-7	breast:
13	chr15:83876782..83879071-chr15:84050776..84053282,2	MCF-7	breast:
14	chr15:83733297..83738085-chr15:83874642..83880991,12	MCF-7	breast:
15	chr15:83876872..83879211-chr15:83879767..83882813,3	K562	blood:
16	chr15:83875339..83878212-chr17:65989153..65990840,2	MCF-7	breast:
17	chr15:83795078..83799216-chr15:83876236..83878812,3	MCF-7	breast:
18	chr15:83678614..83685168-chr15:83874398..83879059,12	MCF-7	breast:
19	chr15:83476923..83480237-chr15:83875108..83878990,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166503	TF binding region
ENSG00000064726	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000263643	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000249214	Chromatin interaction
ENSG00000259986	Chromatin interaction
ENSG00000136404	Chromatin interaction
ENSG00000260608	Chromatin interaction
ENSG00000166503	Chromatin interaction
ENSG00000186665	Chromatin interaction

Extended variants
information (count: 142 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs10520576	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1075619	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1112404	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11259905	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11259965	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11259967	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11259968	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11259969	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11259970	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11852287	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11852408	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11852446	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11852496	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11853498	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11854888	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11855639	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11855722	1.00[ASN][1000 genomes]
rs11856164	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11856806	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11857428	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11857641	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11858162	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11858377	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11858468	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437558	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437858	0.83[EUR][1000 genomes]
rs12437901	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438398	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12438526	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438575	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438708	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439122	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439903	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12440265	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440386	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12440562	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441006	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441409	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441575	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441847	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12441907	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12443109	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12443424	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12591855	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12593532	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12593638	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12595330	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17361375	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17507693	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17507763	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17508610	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17509233	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17567151	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17567869	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17568298	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17568459	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1877024	1.00[ASN][1000 genomes]
rs1880532	0.83[EUR][1000 genomes]
rs1901544	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2034618	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3915139	1.00[ASN][1000 genomes]
rs4300612	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4389108	0.81[AMR][1000 genomes]
rs4408505	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4423388	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480763	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4547301	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4563011	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55683536	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55691648	1.00[ASN][1000 genomes]
rs55756182	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55878453	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55893521	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55905779	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55932429	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55933526	1.00[ASN][1000 genomes]
rs56045305	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56052029	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56352317	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57219675	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57729044	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58006707	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58281154	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58396076	1.00[ASN][1000 genomes]
rs58847484	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59828448	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59896565	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60344060	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60819629	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61267530	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62010162	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010164	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010165	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010166	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010170	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010172	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010173	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010174	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010175	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010177	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010208	1.00[ASN][1000 genomes]
rs62010212	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62010214	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62010215	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62010220	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010247	1.00[ASN][1000 genomes]
rs62010248	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62010252	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010254	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010255	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62010258	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62011869	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62025861	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62025914	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62025915	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62025919	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62025921	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62025923	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6603042	1.00[ASN][1000 genomes]
rs66619192	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66757932	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67933024	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164083	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7165114	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7165978	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7166078	1.00[ASN][1000 genomes]
rs7172590	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7179675	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7180692	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183171	1.00[ASN][1000 genomes]
rs72755992	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7495630	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7495911	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8027577	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031723	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8033380	1.00[ASN][1000 genomes]
rs8038486	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8043224	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs965263	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs965264	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9707895	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534418	chr15:83770116-83960718	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83877000-83879400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:83877200-83878200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
3	chr15:83877400-83878200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:83877400-83878200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:83877400-83878400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr15:83877400-83878600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:83877400-83878600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr15:83877400-83879000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:83877400-83879000	Weak transcription	GM12878-XiMat	blood
10	chr15:83877400-83879000	Weak transcription	HMEC	breast
11	chr15:83877400-83879200	Weak transcription	NHEK	skin
12	chr15:83877600-83878200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr15:83877600-83878200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr15:83877600-83878200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr15:83877600-83878800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:83877600-83879000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:83877600-83879000	Weak transcription	Fetal Heart	heart
18	chr15:83877600-83879000	Weak transcription	K562	blood
19	chr15:83877600-83879600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr15:83877800-83878200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr15:83877800-83878200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:83877800-83878200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr15:83877800-83878200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr15:83877800-83879000	Weak transcription	Fetal Brain Female	brain
25	chr15:83878000-83878200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr15:83878000-83878200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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