Variant report

Variant	rs7276639
Chromosome Location	chr21:46289041-46289042
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr21:46288689-46289074	K562	blood:	n/a	n/a
2	STAT3	chr21:46289000-46290171	MCF10A-Er-Src	breast:	n/a	n/a
3	CUX1	chr21:46288997-46289297	K562	blood:	n/a	n/a
4	EP300	chr21:46288783-46289252	K562	blood:	n/a	n/a
5	MAFF	chr21:46288886-46289058	K562	blood:	n/a	n/a
6	CTCF	chr21:46288965-46289043	K562	blood:	n/a	n/a
7	ARID3A	chr21:46288985-46289262	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46288744..46296879-chr21:46346201..46354260,26	MCF-7	breast:
2	chr21:46288400..46294755-chr21:46304910..46312238,10	K562	blood:
3	chr21:46288437..46290185-chr21:46399908..46402286,2	MCF-7	breast:
4	chr21:46272684..46279612-chr21:46286573..46290125,9	K562	blood:
5	chr21:46234824..46239565-chr21:46284858..46289652,5	K562	blood:
6	chr21:46247392..46250185-chr21:46286804..46289409,3	MCF-7	breast:
7	chr21:46217105..46224485-chr21:46287607..46297526,26	MCF-7	breast:
8	chr21:46231789..46243695-chr21:46286819..46295664,23	MCF-7	breast:
9	chr21:46279667..46283456-chr21:46286447..46289465,4	K562	blood:
10	chr21:46222162..46224765-chr21:46287052..46289071,2	K562	blood:
11	chr21:46237355..46239033-chr21:46286989..46289637,2	MCF-7	breast:

No data

Variant related genes	Relation type
PTTG1IP	TF binding region
ENSG00000184900	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000236519	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs5030673	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv544479	chr21:46280467-46323401	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
13	nsv470907	chr21:46283669-46306161	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Weak 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	18 gene(s)	inside rSNPs	diseases
14	nsv459299	chr21:46283669-46311264	Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
15	nsv459300	chr21:46283669-46311264	Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv587814	chr21:46283669-46311264	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46275600-46290600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:46278400-46289600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:46285000-46291600	Enhancers	Primary hematopoietic stem cells	blood
4	chr21:46285000-46291800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr21:46285200-46289200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr21:46285200-46290000	Genic enhancers	Fetal Thymus	thymus
7	chr21:46285200-46290800	Enhancers	Right Atrium	heart
8	chr21:46285200-46291600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr21:46285400-46291600	Enhancers	Left Ventricle	heart
10	chr21:46285600-46289400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr21:46285600-46291600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr21:46285600-46291800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:46285600-46292200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr21:46285800-46289200	Enhancers	Brain Angular Gyrus	brain
15	chr21:46285800-46289400	Enhancers	Brain Substantia Nigra	brain
16	chr21:46285800-46290000	Enhancers	Brain Anterior Caudate	brain
17	chr21:46286000-46289600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr21:46286000-46289600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr21:46286000-46289600	Enhancers	Colon Smooth Muscle	Colon
20	chr21:46286000-46290600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr21:46286000-46290800	Enhancers	Brain Hippocampus Middle	brain
22	chr21:46286000-46291200	Enhancers	Stomach Mucosa	stomach
23	chr21:46286000-46291600	Enhancers	Liver	Liver
24	chr21:46286200-46290600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr21:46286600-46290400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr21:46286800-46289200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr21:46286800-46289600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr21:46286800-46289800	Enhancers	Aorta	Aorta
29	chr21:46286800-46290000	Enhancers	Psoas Muscle	Psoas
30	chr21:46287000-46289600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr21:46287000-46290600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr21:46287200-46289400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr21:46287200-46289400	Weak transcription	Colonic Mucosa	Colon
34	chr21:46287200-46289400	Genic enhancers	Hela-S3	cervix
35	chr21:46287200-46289600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr21:46287200-46289600	Enhancers	NH-A	brain
37	chr21:46287200-46291600	Enhancers	Primary T cells fromperipheralblood	blood
38	chr21:46287400-46291600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr21:46287400-46291800	Enhancers	Pancreas	Pancrea
40	chr21:46287600-46289200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr21:46287600-46290800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr21:46287600-46290800	Enhancers	Fetal Heart	heart
43	chr21:46287600-46291600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr21:46287600-46291600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr21:46287600-46291800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr21:46287800-46289200	Enhancers	Primary B cells from cord blood	blood
47	chr21:46287800-46289400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr21:46287800-46289600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr21:46287800-46289600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr21:46287800-46289600	Enhancers	Placenta	Placenta

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