Variant report

Variant	rs9979878
Chromosome Location	chr21:45363146-45363147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45363094..45365051-chr21:45388875..45391013,2	MCF-7	breast:
2	chr21:45361847..45364685-chr21:45436825..45439426,2	K562	blood:
3	chr21:45225840..45228634-chr21:45360679..45363193,2	K562	blood:
4	chr21:45361403..45363347-chr21:45436825..45439305,2	K562	blood:
5	chr21:45227134..45230891-chr21:45361693..45364887,4	K562	blood:
6	chr21:45362716..45365648-chr21:45369841..45372206,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215458	Chromatin interaction
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2248918	1.00[EUR][1000 genomes]
rs3948892	1.00[EUR][1000 genomes]
rs57123681	1.00[EUR][1000 genomes]
rs58611881	1.00[EUR][1000 genomes]
rs6378	1.00[EUR][1000 genomes]
rs6381	1.00[EUR][1000 genomes]
rs6385	1.00[EUR][1000 genomes]
rs7276062	0.89[AFR][1000 genomes]
rs7281307	1.00[EUR][1000 genomes]
rs7281760	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73906678	0.87[AFR][1000 genomes]
rs9975576	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9977449	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9981554	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][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:101 , 50 per page) page: 1 2 3

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	chr21:45348400-45363800	Weak transcription	Aorta	Aorta
4	chr21:45350400-45364000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:45352400-45368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr21:45353600-45366600	Weak transcription	Fetal Brain Female	brain
7	chr21:45359000-45363800	Weak transcription	Fetal Lung	lung
8	chr21:45359000-45364000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:45359000-45364000	Weak transcription	Brain Substantia Nigra	brain
10	chr21:45359000-45368800	Weak transcription	Brain Angular Gyrus	brain
11	chr21:45359000-45369200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr21:45359000-45369200	Weak transcription	Brain Germinal Matrix	brain
13	chr21:45359000-45371400	Weak transcription	HSMMtube	muscle
14	chr21:45359200-45364200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:45359200-45364600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr21:45359200-45366400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr21:45359200-45366600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:45359200-45368000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr21:45359200-45368000	Strong transcription	Fetal Stomach	stomach
20	chr21:45359200-45368400	Weak transcription	HSMM	muscle
21	chr21:45359200-45368800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr21:45359200-45376000	Weak transcription	HUVEC	blood vessel
23	chr21:45359200-45378800	Weak transcription	NHEK	skin
24	chr21:45359200-45379000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr21:45359400-45363400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr21:45359400-45363600	Weak transcription	Fetal Heart	heart
27	chr21:45359400-45363800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:45359400-45364000	Weak transcription	Placenta	Placenta
29	chr21:45359400-45364000	Weak transcription	Fetal Thymus	thymus
30	chr21:45359400-45364000	Weak transcription	Left Ventricle	heart
31	chr21:45359400-45368600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr21:45359400-45369800	Weak transcription	Right Atrium	heart
33	chr21:45359400-45370200	Weak transcription	Hela-S3	cervix
34	chr21:45359400-45371800	Weak transcription	Stomach Mucosa	stomach
35	chr21:45359400-45376000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr21:45359400-45389000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr21:45359600-45363800	Strong transcription	Spleen	Spleen
38	chr21:45359600-45365600	Weak transcription	Adipose Nuclei	Adipose
39	chr21:45359600-45366600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr21:45359600-45366600	Weak transcription	Pancreas	Pancrea
41	chr21:45359600-45367800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr21:45359600-45367800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr21:45359600-45367800	Weak transcription	Colon Smooth Muscle	Colon
44	chr21:45359600-45367800	Weak transcription	K562	blood
45	chr21:45359600-45368000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr21:45359600-45368400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr21:45359600-45368400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr21:45359600-45368800	Weak transcription	Brain Anterior Caudate	brain
49	chr21:45359600-45369000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr21:45359600-45369200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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