Variant report

Variant	rs873317
Chromosome Location	chr21:46270245-46270246
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46264289..46271339-chr21:46271625..46276632,16	K562	blood:
2	chr21:46265002..46266574-chr21:46269754..46272322,2	MCF-7	breast:
3	chr21:46244628..46247469-chr21:46269469..46271474,2	MCF-7	breast:
4	chr21:46220705..46222857-chr21:46268688..46270997,2	MCF-7	breast:
5	chr21:46266846..46268611-chr21:46268857..46270465,2	MCF-7	breast:
6	chr21:46269227..46272682-chr21:46358261..46360343,3	K562	blood:
7	chr21:46220969..46223089-chr21:46268593..46270821,2	K562	blood:
8	chr21:46264380..46268999-chr21:46269204..46276124,8	K562	blood:
9	chr21:46253846..46255702-chr21:46270188..46272414,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236519	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000160256	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13047791	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs13051307	0.81[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13051895	0.89[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13051941	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17004706	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap]
rs17004710	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2282111	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2282116	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs235317	0.84[JPT][hapmap]
rs2838679	1.00[ASW][hapmap]
rs2838705	1.00[CEU][hapmap];0.84[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34037159	0.91[EUR][1000 genomes]
rs34276405	0.82[EUR][1000 genomes]
rs34846682	0.82[EUR][1000 genomes]
rs34949239	0.82[EUR][1000 genomes]
rs35101060	0.89[EUR][1000 genomes]
rs35719912	0.81[EUR][1000 genomes]
rs3753015	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4818735	0.81[EUR][1000 genomes]
rs4818736	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs4818738	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55831723	0.91[EUR][1000 genomes]
rs57064200	0.92[EUR][1000 genomes]
rs66506615	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9637165	0.81[EUR][1000 genomes]
rs9808690	1.00[CEU][hapmap];0.81[GIH][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs9808742	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv459298	chr21:46223847-46277968	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv587813	chr21:46223847-46277968	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv913963	chr21:46223847-46277968	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv913964	chr21:46223847-46298869	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv913967	chr21:46249752-46279505	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
13	nsv913968	chr21:46249752-46301008	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv1060233	chr21:46254075-46323401	Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
15	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46266600-46278800	Weak transcription	Fetal Kidney	kidney
2	chr21:46266800-46270400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:46267200-46274000	Weak transcription	Small Intestine	intestine
4	chr21:46267400-46271600	Genic enhancers	Fetal Intestine Small	intestine
5	chr21:46267400-46285200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:46267400-46286600	Strong transcription	Fetal Stomach	stomach
7	chr21:46267600-46273000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:46267600-46277000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr21:46267600-46280600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:46267600-46287000	Strong transcription	Brain Germinal Matrix	brain
11	chr21:46267800-46273400	Weak transcription	Right Atrium	heart
12	chr21:46267800-46273600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr21:46268000-46273000	Strong transcription	Placenta	Placenta
14	chr21:46268000-46278800	Strong transcription	Stomach Smooth Muscle	stomach
15	chr21:46268000-46281200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr21:46268200-46274000	Strong transcription	Fetal Muscle Trunk	muscle
17	chr21:46268200-46278400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:46268200-46281200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr21:46268200-46285800	Strong transcription	Fetal Muscle Leg	muscle
20	chr21:46268600-46270400	Strong transcription	Fetal Thymus	thymus
21	chr21:46268600-46270600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr21:46268600-46270600	Genic enhancers	Monocytes-CD14+_RO01746	blood
23	chr21:46268600-46270800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr21:46268600-46271000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr21:46268600-46271200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr21:46268600-46271400	Genic enhancers	Colonic Mucosa	Colon
27	chr21:46268600-46271400	Strong transcription	NHEK	skin
28	chr21:46268600-46271600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr21:46268600-46271600	Strong transcription	Brain Cingulate Gyrus	brain
30	chr21:46268600-46271600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr21:46268600-46272000	Strong transcription	Brain Substantia Nigra	brain
32	chr21:46268600-46272200	Genic enhancers	Duodenum Mucosa	Duodenum
33	chr21:46268600-46272200	Strong transcription	Left Ventricle	heart
34	chr21:46268600-46273400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr21:46268600-46273600	Strong transcription	Spleen	Spleen
36	chr21:46268600-46273800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr21:46268600-46274400	Genic enhancers	Fetal Intestine Large	intestine
38	chr21:46268600-46276600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr21:46268600-46276600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr21:46268600-46277600	Strong transcription	Brain Hippocampus Middle	brain
41	chr21:46268600-46277600	Strong transcription	HMEC	breast
42	chr21:46268600-46278200	Strong transcription	Adipose Nuclei	Adipose
43	chr21:46268600-46278400	Strong transcription	Lung	lung
44	chr21:46268600-46278600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr21:46268600-46279800	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr21:46268600-46280600	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr21:46268600-46280600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr21:46268600-46281800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr21:46268600-46281800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr21:46268600-46282000	Strong transcription	Fetal Brain Female	brain

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