Variant report

Variant	rs1026418
Chromosome Location	chr5:59975007-59975008
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:59973332..59975337-chr5:60224481..60226392,2	MCF-7	breast:
2	chr5:59974003..59976839-chr5:59984985..59987067,2	K562	blood:
3	chr5:59974810..59977712-chr5:59994412..59996094,2	K562	blood:
4	chr5:59973507..59975333-chr5:60177921..60180223,2	MCF-7	breast:
5	chr5:59969188..59971651-chr5:59973747..59976121,2	K562	blood:
6	chr5:59974424..59976131-chr5:59981029..59983580,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000035499	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1107232	1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs1107233	1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[ASN][1000 genomes]
rs12658660	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1379111	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1379113	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1460959	0.93[CHB][hapmap];0.91[CHD][hapmap]
rs1563516	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1563517	0.93[CHB][hapmap];0.91[CHD][hapmap]
rs1563518	0.91[CHB][hapmap]
rs1563519	0.93[CHB][hapmap]
rs1563905	0.93[CHB][hapmap]
rs1563906	0.91[CHB][hapmap]
rs1563907	0.93[CHB][hapmap]
rs16878304	1.00[CEU][hapmap]
rs16878315	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878354	1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap]
rs1870012	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1870013	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1992613	0.93[CHB][hapmap]
rs2045355	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061254	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap]
rs2124751	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2124753	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2169254	0.93[CHB][hapmap]
rs2305680	1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap]
rs2591635	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs2606688	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs286150	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap]
rs286152	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap]
rs286157	1.00[CEU][hapmap]
rs2898298	0.93[CHB][hapmap]
rs34414908	0.83[ASN][1000 genomes]
rs34915115	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3857238	0.93[CHB][hapmap];0.91[CHD][hapmap]
rs4273559	0.93[CHB][hapmap];0.94[CHD][hapmap]
rs61752571	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6871928	0.93[CHB][hapmap]
rs6872509	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7702459	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7706896	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7708849	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712043	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7713586	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7713673	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7716051	0.93[CHB][hapmap];0.91[CHD][hapmap]
rs7719525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7733069	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap]
rs881066	0.82[ASN][1000 genomes]
rs897671	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897673	1.00[EUR][1000 genomes];0.98[ASN][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	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv462198	chr5:59969015-60116613	Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv598298	chr5:59969015-60116613	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1023403	chr5:59969534-60079822	Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59933600-59981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:59943400-59977000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:59954000-59980200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:59956800-59981800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:59957000-59977000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:59962600-59977000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:59962600-59980000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:59962600-59980800	Weak transcription	Fetal Thymus	thymus
9	chr5:59962600-59981000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:59962600-59981600	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:59962600-59985600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:59962600-59986800	Weak transcription	Fetal Stomach	stomach
13	chr5:59962600-59990000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:59962800-59976600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:59962800-59978600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:59962800-59978800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:59966000-59988800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:59967400-59981800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:59968000-59978800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:59968000-59981800	Weak transcription	Thymus	Thymus
21	chr5:59969400-59977000	Weak transcription	Pancreas	Pancrea
22	chr5:59969400-59981400	Weak transcription	GM12878-XiMat	blood
23	chr5:59969600-59977200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:59969600-59977200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:59969600-59984000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:59969600-59994800	Weak transcription	Fetal Lung	lung
27	chr5:59970400-59980600	Weak transcription	K562	blood
28	chr5:59970600-59980800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:59970600-59981600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:59971000-59993800	Weak transcription	NHLF	lung
31	chr5:59971000-59994000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:59971000-59994200	Weak transcription	NH-A	brain
33	chr5:59971200-59977000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:59971200-59980800	Weak transcription	Placenta	Placenta
35	chr5:59971200-59981800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:59972400-59983200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:59973000-59984200	Weak transcription	Small Intestine	intestine
38	chr5:59973200-59985400	Weak transcription	HMEC	breast
39	chr5:59973600-59986000	Weak transcription	Primary B cells from cord blood	blood
40	chr5:59973800-59980800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:59973800-59986600	Weak transcription	Osteobl	bone
42	chr5:59974000-59975600	Strong transcription	Dnd41	blood
43	chr5:59974000-59980400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr5:59974000-59980400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr5:59974000-59981600	Weak transcription	NHEK	skin
46	chr5:59974200-59977000	Weak transcription	Fetal Intestine Small	intestine
47	chr5:59974200-59981000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:59974200-59984200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:59974200-59994200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr5:59974400-59975400	Enhancers	A549	lung

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