Variant report

Variant	rs73906678
Chromosome Location	chr21:45364210-45364211
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45363803-45364452	K562	blood:	n/a	n/a
2	CTCF	chr21:45364189-45364254	GM13977	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45354193..45356078-chr21:45363330..45365754,2	MCF-7	breast:
2	chr21:45363094..45365051-chr21:45388875..45391013,2	MCF-7	breast:
3	chr21:45361847..45364685-chr21:45436825..45439426,2	K562	blood:
4	chr21:45232218..45234898-chr21:45363794..45365365,2	MCF-7	breast:
5	chr21:45349952..45352425-chr21:45363835..45365722,2	K562	blood:
6	chr21:45227134..45230891-chr21:45361693..45364887,4	K562	blood:
7	chr21:45355633..45358053-chr21:45363187..45364790,2	K562	blood:
8	chr21:45362716..45365648-chr21:45369841..45372206,2	MCF-7	breast:

No data

Variant related genes	Relation type
AGPAT3	TF binding region
ENSG00000215458	Chromatin interaction
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs7276062	0.94[AFR][1000 genomes]
rs7281307	0.82[AFR][1000 genomes]
rs7281760	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9975576	0.96[AFR][1000 genomes]
rs9977449	0.96[AFR][1000 genomes]
rs9979878	0.87[AFR][1000 genomes]
rs9981554	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
4	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1055772	chr21:45353436-45373304	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45343000-45372400	Weak transcription	Small Intestine	intestine
2	chr21:45343800-45379800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr21:45352400-45368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr21:45353600-45366600	Weak transcription	Fetal Brain Female	brain
5	chr21:45359000-45368800	Weak transcription	Brain Angular Gyrus	brain
6	chr21:45359000-45369200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr21:45359000-45369200	Weak transcription	Brain Germinal Matrix	brain
8	chr21:45359000-45371400	Weak transcription	HSMMtube	muscle
9	chr21:45359200-45364600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr21:45359200-45366400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr21:45359200-45366600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr21:45359200-45368000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr21:45359200-45368000	Strong transcription	Fetal Stomach	stomach
14	chr21:45359200-45368400	Weak transcription	HSMM	muscle
15	chr21:45359200-45368800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr21:45359200-45376000	Weak transcription	HUVEC	blood vessel
17	chr21:45359200-45378800	Weak transcription	NHEK	skin
18	chr21:45359200-45379000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr21:45359400-45368600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr21:45359400-45369800	Weak transcription	Right Atrium	heart
21	chr21:45359400-45370200	Weak transcription	Hela-S3	cervix
22	chr21:45359400-45371800	Weak transcription	Stomach Mucosa	stomach
23	chr21:45359400-45376000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr21:45359400-45389000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr21:45359600-45365600	Weak transcription	Adipose Nuclei	Adipose
26	chr21:45359600-45366600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr21:45359600-45366600	Weak transcription	Pancreas	Pancrea
28	chr21:45359600-45367800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr21:45359600-45367800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr21:45359600-45367800	Weak transcription	Colon Smooth Muscle	Colon
31	chr21:45359600-45367800	Weak transcription	K562	blood
32	chr21:45359600-45368000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr21:45359600-45368400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr21:45359600-45368400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr21:45359600-45368800	Weak transcription	Brain Anterior Caudate	brain
36	chr21:45359600-45369000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr21:45359600-45369200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr21:45359800-45369200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr21:45359800-45376400	Weak transcription	NHLF	lung
40	chr21:45360000-45364800	Weak transcription	Dnd41	blood
41	chr21:45360200-45365800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr21:45360200-45366600	Weak transcription	GM12878-XiMat	blood
43	chr21:45360400-45366200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr21:45360400-45368000	Weak transcription	Colonic Mucosa	Colon
45	chr21:45360800-45366600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr21:45360800-45369000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr21:45360800-45371800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr21:45361000-45366600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr21:45361000-45379200	Weak transcription	Ovary	ovary
50	chr21:45361400-45368000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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