Variant report

Variant	rs9978735
Chromosome Location	chr21:44616735-44616736
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:44615544..44618230-chr21:44624963..44626932,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs28718858	1.00[EUR][1000 genomes]
rs59325549	1.00[EUR][1000 genomes]
rs73374272	1.00[EUR][1000 genomes]
rs73376213	1.00[EUR][1000 genomes]
rs73376237	1.00[EUR][1000 genomes]
rs73376238	1.00[EUR][1000 genomes]
rs73376241	1.00[EUR][1000 genomes]
rs73906468	1.00[EUR][1000 genomes]
rs73906487	1.00[EUR][1000 genomes]
rs73906488	1.00[EUR][1000 genomes]
rs73906489	1.00[EUR][1000 genomes]
rs73906491	1.00[EUR][1000 genomes]
rs73906494	1.00[EUR][1000 genomes]
rs73906499	1.00[EUR][1000 genomes]
rs73909413	1.00[EUR][1000 genomes]
rs9976127	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913812	chr21:44213057-44686358	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1067412	chr21:44526656-44772130	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1060276	chr21:44550394-44628579	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv913832	chr21:44579105-44768562	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44609200-44617600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr21:44613200-44617000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr21:44613200-44617800	Enhancers	Fetal Muscle Leg	muscle
4	chr21:44613400-44616800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr21:44613400-44616800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
6	chr21:44613400-44616800	Enhancers	NHEK	skin
7	chr21:44613400-44618000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:44613600-44618000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:44613800-44616800	Enhancers	Left Ventricle	heart
10	chr21:44613800-44617600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:44613800-44617600	Enhancers	HSMMtube	muscle
12	chr21:44613800-44618200	Enhancers	Placenta	Placenta
13	chr21:44614200-44617800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:44614800-44617200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr21:44615000-44617200	Enhancers	Fetal Stomach	stomach
16	chr21:44615000-44617400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
17	chr21:44615400-44616800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr21:44615400-44616800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:44615400-44616800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr21:44615400-44617200	Enhancers	HMEC	breast
21	chr21:44615600-44616800	Weak transcription	Ovary	ovary
22	chr21:44615600-44616800	Enhancers	Hela-S3	cervix
23	chr21:44615600-44617000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:44615600-44617600	Enhancers	HepG2	liver
25	chr21:44615600-44617800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr21:44615800-44617400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr21:44615800-44617600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr21:44615800-44617600	Enhancers	Brain Substantia Nigra	brain
29	chr21:44616000-44617000	Weak transcription	Fetal Lung	lung
30	chr21:44616000-44617000	Weak transcription	Stomach Mucosa	stomach
31	chr21:44616000-44617200	Enhancers	Fetal Muscle Trunk	muscle
32	chr21:44616000-44621000	Weak transcription	Right Atrium	heart
33	chr21:44616200-44617600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr21:44616200-44617600	Enhancers	Brain Anterior Caudate	brain
35	chr21:44616200-44617600	Enhancers	Brain Cingulate Gyrus	brain
36	chr21:44616200-44617600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr21:44616200-44617800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr21:44616200-44617800	Enhancers	Brain Hippocampus Middle	brain
39	chr21:44616400-44617200	Enhancers	Colonic Mucosa	Colon
40	chr21:44616400-44617600	Enhancers	HSMM	muscle
41	chr21:44616400-44618000	Enhancers	Esophagus	oesophagus
42	chr21:44616600-44617200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr21:44616600-44617600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr21:44616600-44617600	Enhancers	Placenta Amnion	Placenta Amnion

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