Variant report

Variant	rs7282245
Chromosome Location	chr21:16388792-16388793
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10482864	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs12483192	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12627409	0.85[CEU][hapmap];0.80[CHB][hapmap];0.92[JPT][hapmap]
rs1474547	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2822989	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2822990	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2822991	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2822992	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2822993	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2822996	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2822997	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2822999	0.82[EUR][1000 genomes]
rs2823004	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823018	0.85[CEU][hapmap];0.80[CHB][hapmap];0.92[JPT][hapmap]
rs2823025	0.84[JPT][hapmap]
rs62220715	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62220718	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73170294	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73172318	0.83[AMR][1000 genomes]
rs909388	0.82[AMR][1000 genomes];0.91[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	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv913411	chr21:16380025-16424421	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv527611	chr21:16382148-16399980	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv913412	chr21:16382148-16416811	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16360400-16402600	Weak transcription	Placenta	Placenta
2	chr21:16364800-16423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:16368600-16414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr21:16374800-16394600	Weak transcription	GM12878-XiMat	blood
5	chr21:16374800-16423200	Weak transcription	Colonic Mucosa	Colon
6	chr21:16376200-16392200	Weak transcription	Lung	lung
7	chr21:16376200-16401600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:16376600-16401800	Weak transcription	Fetal Muscle Leg	muscle
9	chr21:16378200-16390600	Weak transcription	Brain Substantia Nigra	brain
10	chr21:16378400-16400600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr21:16378600-16398200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr21:16378800-16388800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr21:16378800-16390600	Weak transcription	Colon Smooth Muscle	Colon
14	chr21:16378800-16406000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr21:16379000-16400400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr21:16379400-16390800	Weak transcription	Brain Anterior Caudate	brain
17	chr21:16379400-16400800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr21:16379400-16401200	Weak transcription	Small Intestine	intestine
19	chr21:16379600-16393200	Weak transcription	Thymus	Thymus
20	chr21:16379600-16401600	Weak transcription	Right Ventricle	heart
21	chr21:16379600-16403000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr21:16379600-16414800	Weak transcription	Left Ventricle	heart
23	chr21:16379600-16414800	Weak transcription	Ovary	ovary
24	chr21:16379800-16390600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr21:16379800-16399400	Weak transcription	Fetal Lung	lung
26	chr21:16379800-16406400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr21:16380000-16393000	Weak transcription	Primary T cells from cord blood	blood
28	chr21:16380600-16400000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr21:16380600-16400400	Weak transcription	Fetal Intestine Small	intestine
30	chr21:16380600-16414600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr21:16381000-16393600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr21:16381000-16400400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr21:16381000-16403200	Weak transcription	Fetal Thymus	thymus
34	chr21:16381200-16404200	Weak transcription	Fetal Intestine Large	intestine
35	chr21:16381800-16403200	Weak transcription	Adipose Nuclei	Adipose
36	chr21:16382000-16414600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr21:16382400-16401200	Weak transcription	Psoas Muscle	Psoas
38	chr21:16383000-16396400	Weak transcription	Hela-S3	cervix
39	chr21:16383200-16396000	Weak transcription	HSMMtube	muscle
40	chr21:16383400-16388800	Weak transcription	NHLF	lung
41	chr21:16383400-16390800	Weak transcription	Liver	Liver
42	chr21:16383400-16393200	Weak transcription	Dnd41	blood
43	chr21:16383400-16401200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr21:16383400-16414600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr21:16383600-16397200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr21:16383600-16397200	Weak transcription	HepG2	liver
47	chr21:16383600-16400600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr21:16384400-16389000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr21:16385800-16389000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr21:16386000-16401000	Weak transcription	Primary B cells from cord blood	blood

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