Variant report

Variant	rs7277976
Chromosome Location	chr21:45084012-45084013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44922604..44925012-chr21:45081747..45084022,2	MCF-7	breast:
2	chr21:45081592..45084345-chr21:45095328..45097020,2	MCF-7	breast:
3	chr21:45079841..45084102-chr21:45134985..45140333,7	K562	blood:
4	chr21:45083913..45086449-chr21:45100851..45103835,2	MCF-7	breast:
5	chr21:45082895..45085626-chr21:45107142..45109564,2	MCF-7	breast:
6	chr21:45083777..45085513-chr21:45107892..45110105,2	K562	blood:

Variant related genes	Relation type
ENSG00000160209	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17004576	0.93[JPT][hapmap];0.90[YRI][hapmap]
rs17004583	1.00[JPT][hapmap]
rs17004591	1.00[JPT][hapmap];0.83[YRI][hapmap]
rs17004598	1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838332	1.00[JPT][hapmap]
rs3788068	1.00[EUR][1000 genomes]
rs8126502	0.90[EUR][1000 genomes]
rs8126664	0.90[EUR][1000 genomes]
rs8128179	0.82[EUR][1000 genomes]
rs8128469	0.87[JPT][hapmap];0.90[EUR][1000 genomes]
rs8128769	0.81[JPT][hapmap];0.91[YRI][hapmap];0.89[EUR][1000 genomes]
rs8133961	0.90[EUR][1000 genomes]
rs8134178	1.00[JPT][hapmap]
rs9637200	0.81[JPT][hapmap];0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv587700	chr21:45007956-45095200	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45080200-45089800	Weak transcription	Aorta	Aorta
2	chr21:45080600-45122400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr21:45080800-45084200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr21:45080800-45084400	Weak transcription	Brain Hippocampus Middle	brain
5	chr21:45080800-45084800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:45080800-45084800	Weak transcription	Brain Angular Gyrus	brain
7	chr21:45080800-45084800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr21:45080800-45085400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr21:45080800-45085600	Weak transcription	Right Ventricle	heart
10	chr21:45080800-45085600	Weak transcription	Stomach Mucosa	stomach
11	chr21:45080800-45087000	Weak transcription	Osteobl	bone
12	chr21:45080800-45089200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:45080800-45089400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr21:45080800-45092000	Weak transcription	Esophagus	oesophagus
15	chr21:45080800-45094600	Weak transcription	NHLF	lung
16	chr21:45080800-45094800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr21:45080800-45094800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr21:45080800-45096200	Weak transcription	Psoas Muscle	Psoas
19	chr21:45080800-45121800	Weak transcription	Fetal Heart	heart
20	chr21:45080800-45122600	Weak transcription	Small Intestine	intestine
21	chr21:45081000-45089800	Weak transcription	NH-A	brain
22	chr21:45081200-45085600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr21:45081200-45085800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr21:45081200-45085800	Weak transcription	Colon Smooth Muscle	Colon
25	chr21:45081200-45089200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr21:45081200-45096400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr21:45081400-45084400	Weak transcription	Brain Substantia Nigra	brain
28	chr21:45081400-45084400	Weak transcription	Thymus	Thymus
29	chr21:45081400-45085000	Strong transcription	HSMMtube	muscle
30	chr21:45081400-45085600	Weak transcription	Liver	Liver
31	chr21:45081400-45085600	Weak transcription	Fetal Lung	lung
32	chr21:45081400-45085600	Strong transcription	Fetal Stomach	stomach
33	chr21:45081400-45086000	Strong transcription	Fetal Muscle Leg	muscle
34	chr21:45081400-45086200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr21:45081400-45086200	Strong transcription	Fetal Intestine Small	intestine
36	chr21:45081400-45089800	Weak transcription	NHDF-Ad	bronchial
37	chr21:45081600-45085800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr21:45081600-45086400	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr21:45081600-45086400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr21:45081600-45086400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr21:45081600-45086400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr21:45081600-45086400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr21:45081600-45086400	Strong transcription	Fetal Intestine Large	intestine
44	chr21:45081600-45086400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr21:45081600-45086600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr21:45081600-45087200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr21:45081600-45087600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr21:45081600-45093800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr21:45081800-45084800	Strong transcription	Fetal Brain Female	brain
50	chr21:45081800-45085800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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