Variant report

Variant	rs13051307
Chromosome Location	chr21:46265570-46265571
allele	C/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46263369..46266030-chr21:46361753..46363305,2	MCF-7	breast:
2	chr21:46249355..46252823-chr21:46264579..46267372,3	K562	blood:
3	chr21:46264289..46271339-chr21:46271625..46276632,16	K562	blood:
4	chr21:46220066..46223506-chr21:46264882..46267873,4	MCF-7	breast:
5	chr21:46265359..46266619-chr21:46291943..46292855,4	MCF-7	breast:
6	chr21:46236130..46239998-chr21:46264824..46268393,7	MCF-7	breast:
7	chr21:46236105..46239351-chr21:46263407..46266107,3	MCF-7	breast:
8	chr21:46264366..46267434-chr21:46346160..46349229,4	MCF-7	breast:
9	chr21:46221083..46222067-chr21:46265530..46266149,2	MCF-7	breast:
10	chr21:46265002..46266574-chr21:46269754..46272322,2	MCF-7	breast:
11	chr21:46264887..46267295-chr21:46268362..46270043,2	K562	blood:
12	chr21:46264845..46266495-chr21:46291044..46293226,2	MCF-7	breast:
13	chr21:46264380..46268999-chr21:46269204..46276124,8	K562	blood:
14	chr21:46264572..46266878-chr21:46303088..46304857,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160255	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000236519	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13051895	0.86[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13051941	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17004706	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs17004710	0.80[CEU][hapmap];0.88[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2282111	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2282116	0.81[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs2838705	0.81[CEU][hapmap]
rs35101060	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3753015	0.81[AMR][1000 genomes]
rs4818736	0.81[CEU][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap]
rs4818738	1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs66506615	0.83[AMR][1000 genomes]
rs741949	0.84[JPT][hapmap]
rs873317	0.81[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9808690	0.81[CEU][hapmap]

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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46258600-46265600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr21:46262800-46265600	Enhancers	Placenta	Placenta
3	chr21:46264200-46267600	Enhancers	Gastric	stomach
4	chr21:46264400-46265600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr21:46264400-46267600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:46264600-46265600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr21:46264600-46265600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr21:46264600-46265600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr21:46264600-46265600	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr21:46264600-46266000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr21:46264600-46266200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr21:46264600-46266400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:46264600-46268800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:46264800-46266400	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr21:46265200-46265600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr21:46265200-46265600	Enhancers	Primary B cells from cord blood	blood
17	chr21:46265200-46265600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr21:46265200-46265600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr21:46265200-46265600	Flanking Bivalent TSS/Enh	HepG2	liver
20	chr21:46265200-46265800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr21:46265200-46266600	Enhancers	Fetal Kidney	kidney
22	chr21:46265200-46266600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr21:46265200-46266800	Enhancers	Fetal Heart	heart
24	chr21:46265200-46267000	Enhancers	Primary B cells from peripheral blood	blood
25	chr21:46265200-46267000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr21:46265200-46267000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:46265400-46265600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr21:46265400-46265600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
29	chr21:46265400-46265600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr21:46265400-46265600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr21:46265400-46265600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr21:46265400-46265600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr21:46265400-46265600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr21:46265400-46265600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr21:46265400-46265600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr21:46265400-46265600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr21:46265400-46265600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr21:46265400-46265600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr21:46265400-46265600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr21:46265400-46265600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
41	chr21:46265400-46265600	Enhancers	Brain Angular Gyrus	brain
42	chr21:46265400-46265600	Enhancers	Brain Anterior Caudate	brain
43	chr21:46265400-46265600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
44	chr21:46265400-46265600	Enhancers	Colon Smooth Muscle	Colon
45	chr21:46265400-46265600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr21:46265400-46265600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr21:46265400-46265600	Bivalent Enhancer	Fetal Intestine Large	intestine
48	chr21:46265400-46265600	Bivalent Enhancer	Fetal Intestine Small	intestine
49	chr21:46265400-46265600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr21:46265400-46265600	Bivalent Enhancer	Fetal Stomach	stomach

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