Variant report

Variant	rs57393813
Chromosome Location	chr17:59785363-59785364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59692156..59693682-chr17:59783711..59786408,2	MCF-7	breast:
2	chr17:59782208..59785864-chr17:59818424..59822592,3	MCF-7	breast:
3	chr17:59488477..59493840-chr17:59781559..59787606,7	MCF-7	breast:
4	chr17:59784025..59787168-chr17:59909031..59912201,3	MCF-7	breast:
5	chr17:59784609..59786378-chr17:59793738..59795301,2	MCF-7	breast:
6	chr15:24058470..24059216-chr17:59784947..59785679,2	MCF-7	breast:
7	chr17:59687653..59691207-chr17:59785132..59788535,3	MCF-7	breast:
8	chr17:59775949..59780769-chr17:59781104..59786917,12	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000187013	Chromatin interaction
ENSG00000267280	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs1015771	0.87[EUR][1000 genomes]
rs10221278	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10438771	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10468558	0.85[EUR][1000 genomes]
rs10515206	0.85[EUR][1000 genomes]
rs10515207	0.84[EUR][1000 genomes]
rs10515211	0.80[EUR][1000 genomes]
rs10853038	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10853039	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11079445	0.85[EUR][1000 genomes]
rs11079446	0.86[EUR][1000 genomes]
rs11079448	0.86[EUR][1000 genomes]
rs11650471	0.86[EUR][1000 genomes]
rs11651510	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11658539	0.80[EUR][1000 genomes]
rs11871753	0.87[EUR][1000 genomes]
rs12449319	0.86[EUR][1000 genomes]
rs12450027	0.85[EUR][1000 genomes]
rs12451862	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12453293	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12453801	0.86[EUR][1000 genomes]
rs12453966	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12603485	0.85[EUR][1000 genomes]
rs12603617	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12937232	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12949659	0.80[EUR][1000 genomes]
rs12950438	0.87[EUR][1000 genomes]
rs1468577	0.80[EUR][1000 genomes]
rs1541346	0.85[EUR][1000 genomes]
rs16945500	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17532528	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1978244	0.80[EUR][1000 genomes]
rs1990337	0.80[EUR][1000 genomes]
rs1990338	0.80[EUR][1000 genomes]
rs2024188	0.87[EUR][1000 genomes]
rs2040608	0.85[EUR][1000 genomes]
rs2109252	0.87[EUR][1000 genomes]
rs2109254	0.87[EUR][1000 genomes]
rs2109255	0.87[EUR][1000 genomes]
rs2158006	0.83[EUR][1000 genomes]
rs2159450	0.87[EUR][1000 genomes]
rs2188731	0.85[EUR][1000 genomes]
rs2191247	0.86[EUR][1000 genomes]
rs2191249	0.87[EUR][1000 genomes]
rs2214184	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2378874	0.85[EUR][1000 genomes]
rs2378875	0.85[EUR][1000 genomes]
rs2378884	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2378902	0.87[EUR][1000 genomes]
rs2378905	0.80[EUR][1000 genomes]
rs2378906	0.80[EUR][1000 genomes]
rs28571892	0.87[EUR][1000 genomes]
rs2890012	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2890013	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2890021	0.87[EUR][1000 genomes]
rs36031690	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4309463	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4343344	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4580256	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4968444	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4968447	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4968577	0.85[EUR][1000 genomes]
rs4968579	0.86[EUR][1000 genomes]
rs4968580	0.86[EUR][1000 genomes]
rs4968582	0.86[EUR][1000 genomes]
rs4968584	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4968585	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4968588	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4988351	0.81[EUR][1000 genomes]
rs55797010	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56284136	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57099937	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61599541	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62068837	0.80[EUR][1000 genomes]
rs62070615	0.86[EUR][1000 genomes]
rs62070616	0.86[EUR][1000 genomes]
rs62070617	0.86[EUR][1000 genomes]
rs62070624	0.82[EUR][1000 genomes]
rs6504068	0.87[EUR][1000 genomes]
rs6504070	0.82[EUR][1000 genomes]
rs6504071	0.80[EUR][1000 genomes]
rs6504072	0.80[EUR][1000 genomes]
rs67273191	0.85[EUR][1000 genomes]
rs67938055	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs717961	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs717962	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7207074	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7207881	0.87[EUR][1000 genomes]
rs7212172	0.80[EUR][1000 genomes]
rs7212423	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7213329	0.80[EUR][1000 genomes]
rs7213470	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7213587	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7213759	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7214884	0.80[EUR][1000 genomes]
rs7215784	0.80[EUR][1000 genomes]
rs7216011	0.80[EUR][1000 genomes]
rs7216756	0.80[EUR][1000 genomes]
rs7216824	0.80[EUR][1000 genomes]
rs7217206	0.80[EUR][1000 genomes]
rs7217292	0.87[EUR][1000 genomes]
rs7220688	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7220719	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72841508	0.86[EUR][1000 genomes]
rs8074949	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8075370	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8075397	0.88[EUR][1000 genomes]
rs8077088	0.80[EUR][1000 genomes]
rs8078977	0.85[EUR][1000 genomes]
rs8182296	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9303449	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9807012	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9895987	0.80[EUR][1000 genomes]
rs9896013	0.85[EUR][1000 genomes]
rs9897121	0.80[EUR][1000 genomes]
rs9897450	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9897928	0.87[EUR][1000 genomes]
rs9900559	0.80[EUR][1000 genomes]
rs9901428	0.85[EUR][1000 genomes]
rs9902995	0.87[EUR][1000 genomes]
rs9903041	0.85[EUR][1000 genomes]
rs9904292	0.80[EUR][1000 genomes]
rs9904294	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9905870	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9906313	0.87[EUR][1000 genomes]
rs9907299	0.80[EUR][1000 genomes]
rs991378	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv908673	chr17:59767501-59926645	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59763400-59792800	Weak transcription	NH-A	brain
2	chr17:59766000-59819000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:59767600-59792800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr17:59767600-59793200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:59771800-59794600	Weak transcription	HSMM	muscle
6	chr17:59777400-59785600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr17:59778200-59805800	Weak transcription	Thymus	Thymus
8	chr17:59779200-59785600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr17:59779400-59790000	Weak transcription	HepG2	liver
10	chr17:59780000-59793400	Weak transcription	Fetal Heart	heart
11	chr17:59780200-59785600	Weak transcription	Dnd41	blood
12	chr17:59780400-59785600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr17:59780400-59791000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr17:59780800-59785600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:59780800-59793000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr17:59781000-59791800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr17:59781600-59835400	Weak transcription	Hela-S3	cervix
18	chr17:59782400-59785400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr17:59782800-59785800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:59782800-59793200	Weak transcription	Fetal Lung	lung
21	chr17:59783000-59793600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr17:59783200-59785600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr17:59783200-59790200	Weak transcription	A549	lung
24	chr17:59783400-59786200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr17:59783400-59793200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr17:59783600-59787800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr17:59783800-59793600	Weak transcription	Fetal Intestine Large	intestine
28	chr17:59784000-59794600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:59784200-59786000	Weak transcription	Fetal Thymus	thymus
30	chr17:59784200-59793000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr17:59784400-59785600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr17:59784400-59792800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr17:59784400-59793400	Weak transcription	NHEK	skin
34	chr17:59784400-59815200	Weak transcription	HMEC	breast
35	chr17:59784600-59788600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:59784800-59787200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr17:59785000-59786600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr17:59785000-59787400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr17:59785000-59790400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr17:59785000-59793400	Weak transcription	K562	blood
41	chr17:59785200-59786200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr17:59785200-59794400	Weak transcription	H1 Cell Line	embryonic stem cell

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