Variant report

Variant	rs7275998
Chromosome Location	chr21:46532369-46532370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46531155..46534014-chr21:46536221..46540491,4	K562	blood:
2	chr21:46346684..46349434-chr21:46531378..46533130,2	MCF-7	breast:
3	chr21:46528737..46532394-chr21:46532848..46536874,5	K562	blood:
4	chr21:46530815..46533467-chr21:46549475..46551001,2	K562	blood:
5	chr21:46532162..46533690-chr21:46538991..46541427,3	K562	blood:

Variant related genes	Relation type
ENSG00000197381	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000267857	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17004733	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2104812	0.81[CEU][hapmap]
rs2236702	0.89[CEU][hapmap]
rs3788152	0.89[CEU][hapmap]
rs387097	1.00[CEU][hapmap]
rs729895	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs872768	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv3541	chr21:46496415-46536629	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46516400-46549400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:46522600-46538600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:46523000-46532600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr21:46523000-46548200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr21:46525000-46533600	Weak transcription	NHEK	skin
6	chr21:46525200-46534000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr21:46525800-46533600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:46525800-46534000	Weak transcription	HMEC	breast
9	chr21:46526400-46533600	Weak transcription	Fetal Stomach	stomach
10	chr21:46526400-46534000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr21:46526400-46549400	Weak transcription	Brain Substantia Nigra	brain
12	chr21:46526800-46536400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:46528800-46532600	Enhancers	Dnd41	blood
14	chr21:46528800-46536600	Genic enhancers	HSMM	muscle
15	chr21:46528800-46537200	Enhancers	Left Ventricle	heart
16	chr21:46529200-46536600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr21:46529200-46537400	Weak transcription	Ovary	ovary
18	chr21:46529200-46538400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:46529400-46534600	Weak transcription	Pancreas	Pancrea
20	chr21:46529400-46540400	Weak transcription	Gastric	stomach
21	chr21:46529400-46549400	Weak transcription	Esophagus	oesophagus
22	chr21:46529600-46534000	Weak transcription	Aorta	Aorta
23	chr21:46529600-46537200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr21:46529800-46532400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr21:46529800-46554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr21:46530000-46532600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr21:46530000-46532800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr21:46530000-46532800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr21:46530200-46532400	Weak transcription	NH-A	brain
30	chr21:46530200-46532800	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr21:46530200-46532800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr21:46530200-46533200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr21:46530200-46534200	Enhancers	Fetal Heart	heart
34	chr21:46530400-46532800	Enhancers	Adipose Nuclei	Adipose
35	chr21:46530400-46533600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr21:46530400-46534200	Weak transcription	Fetal Brain Male	brain
37	chr21:46530400-46538600	Weak transcription	Fetal Kidney	kidney
38	chr21:46530400-46548400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr21:46530400-46554600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr21:46530600-46533000	Enhancers	Right Atrium	heart
41	chr21:46530600-46533000	Enhancers	HUVEC	blood vessel
42	chr21:46530800-46532400	Enhancers	Brain Hippocampus Middle	brain
43	chr21:46530800-46532800	Enhancers	Lung	lung
44	chr21:46530800-46534000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr21:46530800-46535400	Enhancers	Spleen	Spleen
46	chr21:46530800-46535600	Enhancers	Right Ventricle	heart
47	chr21:46530800-46554600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr21:46531000-46532600	Enhancers	Primary T cells from cord blood	blood
49	chr21:46531000-46532600	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr21:46531000-46533800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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