Variant report

Variant	rs57219675
Chromosome Location	chr15:83862711-83862712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83854397..83857005-chr15:83860575..83862962,2	K562	blood:
2	chr15:83861740..83863529-chr15:83864105..83865780,2	K562	blood:
3	chr15:83862175..83865617-chr15:83873380..83877814,4	K562	blood:
4	chr15:83827913..83829860-chr15:83861964..83864558,2	MCF-7	breast:
5	chr15:83861348..83866497-chr15:83870709..83877751,10	K562	blood:
6	chr15:83733605..83736253-chr15:83862625..83865448,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166503	Chromatin interaction
ENSG00000263643	Chromatin interaction
ENSG00000064726	Chromatin interaction

Extended variants
information (count: 179 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:178)

rs_ID	r²[population]
rs10520576	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1075619	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1112404	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11259903	0.95[ASN][1000 genomes]
rs11259905	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11259906	0.89[ASN][1000 genomes]
rs11259965	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11259967	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11259968	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11259969	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11259970	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852287	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11852408	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852446	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852496	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11853498	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11853742	0.80[ASN][1000 genomes]
rs11853977	0.88[ASN][1000 genomes]
rs11854520	0.89[ASN][1000 genomes]
rs11854888	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11855639	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11856000	0.94[ASN][1000 genomes]
rs11856164	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11856171	0.94[ASN][1000 genomes]
rs11856806	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857428	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11857641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857878	0.86[ASN][1000 genomes]
rs11858162	0.85[EUR][1000 genomes]
rs11858377	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11858468	0.83[EUR][1000 genomes]
rs12437558	0.85[EUR][1000 genomes]
rs12437858	0.83[EUR][1000 genomes]
rs12437901	0.85[EUR][1000 genomes]
rs12438398	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12438526	0.84[EUR][1000 genomes]
rs12438575	0.85[EUR][1000 genomes]
rs12438708	0.84[EUR][1000 genomes]
rs12439122	0.85[EUR][1000 genomes]
rs12439903	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12440265	0.85[EUR][1000 genomes]
rs12440386	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12440562	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12441006	0.85[EUR][1000 genomes]
rs12441409	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12441575	0.85[EUR][1000 genomes]
rs12441585	0.97[ASN][1000 genomes]
rs12441847	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12442572	0.95[ASN][1000 genomes]
rs12443109	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12443424	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12591855	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12593532	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12593638	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594496	0.99[ASN][1000 genomes]
rs12595330	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158080	0.97[ASN][1000 genomes]
rs17361375	0.85[EUR][1000 genomes]
rs17507693	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17507763	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17508610	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17509233	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17567151	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17567869	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17568298	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17568459	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1880532	0.83[EUR][1000 genomes]
rs1901544	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2034617	0.97[ASN][1000 genomes]
rs2034618	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2167600	0.82[ASN][1000 genomes]
rs28373753	1.00[ASN][1000 genomes]
rs28436027	0.92[ASN][1000 genomes]
rs28538218	0.82[ASN][1000 genomes]
rs28623260	1.00[ASN][1000 genomes]
rs28625676	0.95[ASN][1000 genomes]
rs28678434	0.86[ASN][1000 genomes]
rs28754750	0.97[ASN][1000 genomes]
rs4300612	0.81[AMR][1000 genomes]
rs4341707	0.86[ASN][1000 genomes]
rs4386103	0.86[ASN][1000 genomes]
rs4389108	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4408505	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4423388	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4480763	0.87[EUR][1000 genomes]
rs4531702	0.86[ASN][1000 genomes]
rs4547301	0.81[AMR][1000 genomes]
rs4563011	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4572349	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55683536	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55756182	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55878453	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55893521	0.85[EUR][1000 genomes]
rs55905779	0.84[EUR][1000 genomes]
rs55932429	0.84[EUR][1000 genomes]
rs56045305	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56052029	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56352317	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56391827	0.90[ASN][1000 genomes]
rs57729044	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58006707	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58281154	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58292616	0.99[ASN][1000 genomes]
rs58329615	0.83[ASN][1000 genomes]
rs58847484	0.82[EUR][1000 genomes]
rs59828448	0.81[EUR][1000 genomes]
rs59896565	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60344060	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60819629	0.85[EUR][1000 genomes]
rs60935326	0.96[ASN][1000 genomes]
rs61267530	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61323939	0.90[ASN][1000 genomes]
rs62010162	0.83[EUR][1000 genomes]
rs62010164	0.85[EUR][1000 genomes]
rs62010165	0.85[EUR][1000 genomes]
rs62010166	0.85[EUR][1000 genomes]
rs62010170	0.82[EUR][1000 genomes]
rs62010172	0.81[EUR][1000 genomes]
rs62010173	0.85[EUR][1000 genomes]
rs62010174	0.83[EUR][1000 genomes]
rs62010175	0.85[EUR][1000 genomes]
rs62010177	0.83[EUR][1000 genomes]
rs62010212	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62010214	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62010215	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010220	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62010248	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010252	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62010254	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62010255	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62010258	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62011869	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62025861	0.81[AMR][1000 genomes]
rs62025914	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62025915	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62025919	0.84[EUR][1000 genomes]
rs62025921	0.84[EUR][1000 genomes]
rs62025923	0.81[EUR][1000 genomes]
rs6602970	0.89[ASN][1000 genomes]
rs6603047	0.96[ASN][1000 genomes]
rs66603627	0.82[ASN][1000 genomes]
rs66619192	0.85[EUR][1000 genomes]
rs66757932	0.83[EUR][1000 genomes]
rs66982382	0.82[ASN][1000 genomes]
rs67933024	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7164083	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165114	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165978	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7172590	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7173166	0.89[ASN][1000 genomes]
rs7179675	0.83[EUR][1000 genomes]
rs7180407	0.89[ASN][1000 genomes]
rs7180692	0.85[EUR][1000 genomes]
rs72755992	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73437314	0.99[ASN][1000 genomes]
rs73437324	0.99[ASN][1000 genomes]
rs73437329	0.99[ASN][1000 genomes]
rs73437330	0.99[ASN][1000 genomes]
rs73438913	0.93[ASN][1000 genomes]
rs73438921	0.86[ASN][1000 genomes]
rs73438937	0.88[ASN][1000 genomes]
rs73438941	0.88[ASN][1000 genomes]
rs73438962	0.88[ASN][1000 genomes]
rs73455410	0.96[ASN][1000 genomes]
rs73455413	0.96[ASN][1000 genomes]
rs73455451	0.99[ASN][1000 genomes]
rs7495630	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7495911	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027193	0.95[ASN][1000 genomes]
rs8027577	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8031723	0.85[EUR][1000 genomes]
rs8035810	0.97[ASN][1000 genomes]
rs8037783	0.96[ASN][1000 genomes]
rs8038486	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043224	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs965263	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs965264	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9707895	0.95[AMR][1000 genomes];0.98[EUR][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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83832200-83865600	Weak transcription	HSMM	muscle
2	chr15:83836000-83870200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr15:83837000-83873600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:83840000-83867200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:83840000-83867200	Weak transcription	Fetal Brain Female	brain
6	chr15:83840200-83869200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr15:83840600-83863400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:83841200-83872600	Weak transcription	Brain Germinal Matrix	brain
9	chr15:83841800-83870400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr15:83847400-83873400	Weak transcription	Fetal Kidney	kidney
11	chr15:83854600-83864200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr15:83857000-83864200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:83858200-83863400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr15:83858800-83865600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr15:83860200-83863000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:83860400-83863800	Enhancers	HMEC	breast
17	chr15:83860600-83864000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:83860800-83864000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:83861000-83873600	Weak transcription	Left Ventricle	heart
20	chr15:83861000-83873600	Weak transcription	Right Atrium	heart
21	chr15:83861200-83863200	Enhancers	A549	lung
22	chr15:83861200-83863400	Enhancers	GM12878-XiMat	blood
23	chr15:83861200-83868400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:83861600-83863000	Weak transcription	Fetal Heart	heart
25	chr15:83861600-83863600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr15:83861600-83863800	Enhancers	K562	blood
27	chr15:83861600-83864800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr15:83861600-83869200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr15:83861800-83864000	Enhancers	NHEK	skin
30	chr15:83861800-83869200	Weak transcription	HSMMtube	muscle
31	chr15:83861800-83870400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:83861800-83871600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr15:83862000-83863000	Enhancers	Right Ventricle	heart
34	chr15:83862000-83864800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr15:83862000-83867000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr15:83862200-83862800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:83862200-83862800	Enhancers	Ovary	ovary
38	chr15:83862200-83863200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr15:83862200-83863800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr15:83862200-83864200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr15:83862400-83862800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr15:83862400-83863400	Weak transcription	HUVEC	blood vessel
43	chr15:83862600-83862800	Genic enhancers	H1 Cell Line	embryonic stem cell
44	chr15:83862600-83862800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:83862600-83862800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:83862600-83862800	Enhancers	NHDF-Ad	bronchial
47	chr15:83862600-83865000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr15:83862600-83865600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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