Variant report

Variant	rs13051895
Chromosome Location	chr21:46266066-46266067
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46265614..46266477-chr21:46331218..46332210,2	MCF-7	breast:
2	chr21:46266013..46268902-chr21:46273662..46275301,2	MCF-7	breast:
3	chr21:46249355..46252823-chr21:46264579..46267372,3	K562	blood:
4	chr21:46221046..46221667-chr21:46265594..46266366,4	MCF-7	breast:
5	chr21:46264289..46271339-chr21:46271625..46276632,16	K562	blood:
6	chr21:46220066..46223506-chr21:46264882..46267873,4	MCF-7	breast:
7	chr21:46265879..46266847-chr3:73160121..73160624,2	NB4	blood:
8	chr21:46265359..46266619-chr21:46291943..46292855,4	MCF-7	breast:
9	chr21:46236130..46239998-chr21:46264824..46268393,7	MCF-7	breast:
10	chr21:46236105..46239351-chr21:46263407..46266107,3	MCF-7	breast:
11	chr21:46265676..46266482-chr21:46331351..46332016,2	MCF-7	breast:
12	chr21:46264366..46267434-chr21:46346160..46349229,4	MCF-7	breast:
13	chr21:46220004..46222694-chr21:46265684..46268092,3	K562	blood:
14	chr21:46221083..46222067-chr21:46265530..46266149,2	MCF-7	breast:
15	chr21:46265002..46266574-chr21:46269754..46272322,2	MCF-7	breast:
16	chr21:46180771..46183502-chr21:46265966..46267491,2	MCF-7	breast:
17	chr21:46264887..46267295-chr21:46268362..46270043,2	K562	blood:
18	chr21:46264845..46266495-chr21:46291044..46293226,2	MCF-7	breast:
19	chr21:46265637..46266395-chr21:46369378..46370023,2	MCF-7	breast:
20	chr21:46264380..46268999-chr21:46269204..46276124,8	K562	blood:
21	chr21:46265590..46266360-chr21:46294954..46295944,5	MCF-7	breast:
22	chr21:46264572..46266878-chr21:46303088..46304857,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223247	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000236519	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13051307	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];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17004706	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs17004710	0.89[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2282111	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2282116	0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs235317	0.80[JPT][hapmap]
rs2838705	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs35101060	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3753015	0.81[AMR][1000 genomes]
rs4818736	0.86[CEU][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]
rs4818738	0.88[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs66506615	0.83[AMR][1000 genomes]
rs741949	0.80[JPT][hapmap]
rs873317	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]
rs9808690	0.89[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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46264200-46267600	Enhancers	Gastric	stomach
2	chr21:46264400-46267600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:46264600-46266200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr21:46264600-46266400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:46264600-46268800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:46264800-46266400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr21:46265200-46266600	Enhancers	Fetal Kidney	kidney
8	chr21:46265200-46266600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr21:46265200-46266800	Enhancers	Fetal Heart	heart
10	chr21:46265200-46267000	Enhancers	Primary B cells from peripheral blood	blood
11	chr21:46265200-46267000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr21:46265200-46267000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:46265400-46266200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr21:46265400-46266200	Flanking Active TSS	Brain Substantia Nigra	brain
15	chr21:46265400-46266200	Active TSS	A549	lung
16	chr21:46265400-46266400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr21:46265400-46266400	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr21:46265400-46266400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr21:46265400-46266400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr21:46265400-46266400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr21:46265400-46266400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr21:46265400-46266400	Flanking Active TSS	NHDF-Ad	bronchial
23	chr21:46265400-46266600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr21:46265400-46266600	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr21:46265400-46266600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr21:46265400-46266600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr21:46265400-46266600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr21:46265400-46266600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr21:46265400-46266600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
30	chr21:46265400-46266600	Flanking Active TSS	K562	blood
31	chr21:46265400-46266800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr21:46265400-46266800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr21:46265400-46266800	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr21:46265400-46266800	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr21:46265400-46266800	Bivalent Enhancer	Fetal Brain Male	brain
36	chr21:46265400-46266800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr21:46265400-46266800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr21:46265400-46266800	Flanking Active TSS	Hela-S3	cervix
39	chr21:46265400-46267000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr21:46265400-46267200	Enhancers	Liver	Liver
41	chr21:46265400-46267200	Enhancers	Small Intestine	intestine
42	chr21:46265400-46267400	Enhancers	Lung	lung
43	chr21:46265400-46267600	Enhancers	Esophagus	oesophagus
44	chr21:46265400-46267600	Enhancers	Fetal Lung	lung
45	chr21:46265400-46268000	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr21:46265400-46268000	Enhancers	Spleen	Spleen
47	chr21:46265600-46266200	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr21:46265600-46266200	Active TSS	H9 Cell Line	embryonic stem cell
49	chr21:46265600-46266200	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr21:46265600-46266200	Active TSS	HUES64 Cell Line	embryonic stem cell

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