Variant report

Variant	rs17568298
Chromosome Location	chr15:83848326-83848327
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr15:83847508-83848813	K562	blood:	n/a	n/a
2	POLR2A	chr15:83847631-83848336	A549	lung:	n/a	n/a
3	GATA1	chr15:83847105-83848578	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83847714..83850048-chr15:83876536..83879465,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259986	TF binding region
ENSG00000166503	Chromatin interaction

Extended variants
information (count: 143 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs1045742	0.88[CEU][hapmap]
rs10520576	1.00[CEU][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1075619	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.93[TSI][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1112404	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11259905	0.88[CEU][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11259965	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11259967	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11259968	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11259969	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11259970	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11852287	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11852408	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11852446	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11852496	1.00[CEU][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11853498	1.00[CEU][hapmap];0.80[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11854888	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11855639	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11855722	1.00[ASN][1000 genomes]
rs11856164	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11856806	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11857428	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11857641	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11858162	0.94[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11858377	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11858468	0.94[CEU][hapmap];0.83[GIH][hapmap];0.80[MEX][hapmap];0.93[TSI][hapmap];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	0.98[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	0.87[GIH][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439903	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12440265	0.94[CEU][hapmap];0.82[GIH][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440386	0.89[CEU][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12440562	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[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	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[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	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12441907	1.00[ASN][1000 genomes]
rs12443109	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12443424	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12591855	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12593532	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12593638	1.00[CEU][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12595330	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17361375	0.94[CEU][hapmap];0.83[GIH][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17507693	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17507763	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17508610	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17509233	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17567151	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17567869	1.00[CEU][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17568459	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1877024	1.00[ASN][1000 genomes]
rs1880532	0.83[EUR][1000 genomes]
rs1901544	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2034618	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3915139	1.00[ASN][1000 genomes]
rs41326445	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap]
rs4300612	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4408505	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4423388	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480763	0.88[CEU][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4547301	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4563011	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4572349	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55683536	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55691648	1.00[ASN][1000 genomes]
rs55756182	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55878453	0.94[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	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56052029	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56352317	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57219675	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57729044	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58006707	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58281154	0.94[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	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60344060	1.00[AFR][1000 genomes];1.00[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	0.90[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	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62010214	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62010215	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62010220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010247	1.00[ASN][1000 genomes]
rs62010248	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62010252	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010254	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010255	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62010258	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62011869	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62025861	0.82[AMR][1000 genomes]
rs62025914	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62025915	0.94[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	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164083	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7165114	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7165978	1.00[CEU][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7166078	1.00[ASN][1000 genomes]
rs7172590	0.94[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	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7495630	1.00[CEU][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7495911	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8027577	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031723	0.94[CEU][hapmap];0.83[GIH][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8033380	1.00[ASN][1000 genomes]
rs8038486	1.00[CEU][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8043224	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs965263	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs965264	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9707895	0.86[AFR][1000 genomes];0.97[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17568298	C15orf40	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83832200-83865600	Weak transcription	HSMM	muscle
2	chr15:83834000-83860600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr15:83836000-83870200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:83836400-83861600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr15:83837000-83873600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:83838000-83862000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr15:83839200-83862400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr15:83840000-83860200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:83840000-83867200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:83840000-83867200	Weak transcription	Fetal Brain Female	brain
11	chr15:83840200-83869200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr15:83840400-83861000	Weak transcription	HUVEC	blood vessel
13	chr15:83840600-83857400	Weak transcription	Fetal Muscle Leg	muscle
14	chr15:83840600-83863400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:83841200-83872600	Weak transcription	Brain Germinal Matrix	brain
16	chr15:83841600-83854600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:83841800-83870400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr15:83845000-83854200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:83845000-83854600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:83845400-83849200	Weak transcription	Right Atrium	heart
21	chr15:83845600-83862000	Weak transcription	Right Ventricle	heart
22	chr15:83846400-83858000	Weak transcription	Fetal Intestine Small	intestine
23	chr15:83846400-83860800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:83846600-83848400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:83846600-83855400	Weak transcription	Aorta	Aorta
26	chr15:83847400-83873400	Weak transcription	Fetal Kidney	kidney
27	chr15:83847600-83848600	Enhancers	Fetal Heart	heart
28	chr15:83847800-83857200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr15:83848000-83862600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:83848200-83848400	Enhancers	Ovary	ovary
31	chr15:83848200-83848400	Active TSS	GM12878-XiMat	blood
32	chr15:83848200-83848400	Enhancers	K562	blood
33	chr15:83848200-83860600	Weak transcription	Left Ventricle	heart
34	chr15:83848200-83861600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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