Variant report

Variant	rs8133475
Chromosome Location	chr21:40337635-40337636
allele	C/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40336344..40340139-chr21:40341123..40345538,8	MCF-7	breast:
2	chr21:40176050..40179009-chr21:40337234..40339376,3	MCF-7	breast:
3	chr21:40330835..40334346-chr21:40336648..40339574,3	K562	blood:
4	chr21:40106234..40108594-chr21:40335676..40338028,2	MCF-7	breast:
5	chr21:40302516..40304456-chr21:40336537..40339485,2	MCF-7	breast:
6	chr21:40331496..40334558-chr21:40337329..40339575,3	MCF-7	breast:
7	chr21:40337165..40339776-chr21:40372781..40374935,2	MCF-7	breast:
8	chr21:40336565..40338612-chr21:40441331..40445177,3	MCF-7	breast:
9	chr21:40327171..40331456-chr21:40332827..40338922,7	MCF-7	breast:
10	chr21:40336583..40338374-chr21:40346927..40348876,2	MCF-7	breast:
11	chr21:40178812..40180456-chr21:40337476..40339566,2	MCF-7	breast:
12	chr21:40336698..40338198-chr21:40378007..40380922,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction
ENSG00000235888	Chromatin interaction
ENSG00000205622	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10854393	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10854394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10854395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11088460	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[YRI][hapmap];0.84[ASN][1000 genomes]
rs11088461	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12165276	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2410071	1.00[CEU][hapmap]
rs2836793	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836794	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836809	1.00[CEU][hapmap]
rs2836810	1.00[CEU][hapmap]
rs60997307	0.98[ASN][1000 genomes]
rs7278217	0.88[ASN][1000 genomes]
rs7283257	0.88[ASN][1000 genomes]
rs732339	1.00[CEU][hapmap]
rs732340	1.00[CEU][hapmap]
rs8126897	0.86[ASN][1000 genomes]
rs8129750	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8131869	0.98[ASN][1000 genomes]
rs881558	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs973193	1.00[CEU][hapmap]
rs9980120	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9980681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9981682	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9982548	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9982800	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9983903	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40331800-40338800	Weak transcription	Spleen	Spleen
2	chr21:40332000-40356800	Weak transcription	Right Atrium	heart
3	chr21:40332800-40338000	Weak transcription	Liver	Liver
4	chr21:40334600-40338000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:40335200-40340400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr21:40336200-40338000	Enhancers	HepG2	liver
7	chr21:40336400-40337800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr21:40336400-40337800	Enhancers	Duodenum Mucosa	Duodenum
9	chr21:40336400-40337800	Enhancers	Fetal Heart	heart
10	chr21:40336400-40337800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr21:40336400-40338400	Enhancers	NHLF	lung
12	chr21:40336400-40338600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr21:40336400-40338600	Enhancers	Placenta	Placenta
14	chr21:40336400-40343600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr21:40336600-40337800	Enhancers	Fetal Stomach	stomach
16	chr21:40336600-40338400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:40336600-40338400	Enhancers	Ovary	ovary
18	chr21:40337000-40338400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr21:40337000-40338400	Enhancers	Fetal Muscle Leg	muscle
20	chr21:40337200-40337800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:40337200-40337800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr21:40337200-40338400	Enhancers	Lung	lung
23	chr21:40337200-40339200	Enhancers	Fetal Lung	lung
24	chr21:40337400-40337800	Enhancers	Fetal Intestine Small	intestine
25	chr21:40337400-40337800	Enhancers	Fetal Muscle Trunk	muscle
26	chr21:40337400-40337800	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr21:40337400-40337800	Enhancers	K562	blood
28	chr21:40337400-40338000	Enhancers	Gastric	stomach
29	chr21:40337400-40338400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr21:40337400-40338400	Enhancers	Right Ventricle	heart
31	chr21:40337400-40338600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr21:40337400-40339000	Weak transcription	Fetal Kidney	kidney
33	chr21:40337600-40338000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr21:40337600-40338200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr21:40337600-40338200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr21:40337600-40338400	Enhancers	Stomach Mucosa	stomach
37	chr21:40337600-40339000	Enhancers	Fetal Intestine Large	intestine

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