Variant report

Variant	rs2823009
Chromosome Location	chr21:16399980-16399981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16397947..16400507-chr21:16406341..16409146,2	MCF-7	breast:
2	chr21:16390155..16392486-chr21:16399376..16401448,2	MCF-7	breast:
3	chr21:16397267..16399986-chr21:16410765..16412488,2	K562	blood:

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

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

rs_ID	r²[population]
rs1997577	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2251399	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2823001	0.80[JPT][hapmap]
rs2823002	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2823003	0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs2823006	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2823007	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2823017	0.82[ASW][hapmap];0.93[CEU][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2823022	1.00[CEU][hapmap]
rs28574812	0.98[EUR][1000 genomes]
rs6517179	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6517180	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7280064	1.00[CEU][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap]
rs7281871	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8132398	0.85[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.84[LWK][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap]
rs9305530	0.94[AMR][1000 genomes];0.99[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:80 , 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	chr21:16374800-16423200	Weak transcription	Colonic Mucosa	Colon
5	chr21:16376200-16401600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:16376600-16401800	Weak transcription	Fetal Muscle Leg	muscle
7	chr21:16378400-16400600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr21:16378800-16406000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr21:16379000-16400400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr21:16379400-16400800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr21:16379400-16401200	Weak transcription	Small Intestine	intestine
12	chr21:16379600-16401600	Weak transcription	Right Ventricle	heart
13	chr21:16379600-16403000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr21:16379600-16414800	Weak transcription	Left Ventricle	heart
15	chr21:16379600-16414800	Weak transcription	Ovary	ovary
16	chr21:16379800-16406400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr21:16380600-16400000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr21:16380600-16400400	Weak transcription	Fetal Intestine Small	intestine
19	chr21:16380600-16414600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr21:16381000-16400400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr21:16381000-16403200	Weak transcription	Fetal Thymus	thymus
22	chr21:16381200-16404200	Weak transcription	Fetal Intestine Large	intestine
23	chr21:16381800-16403200	Weak transcription	Adipose Nuclei	Adipose
24	chr21:16382000-16414600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr21:16382400-16401200	Weak transcription	Psoas Muscle	Psoas
26	chr21:16383400-16401200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr21:16383400-16414600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr21:16383600-16400600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr21:16386000-16401000	Weak transcription	Primary B cells from cord blood	blood
30	chr21:16386000-16413200	Weak transcription	K562	blood
31	chr21:16387000-16400000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr21:16387600-16401400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr21:16388800-16400400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr21:16388800-16402200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr21:16388800-16402800	Weak transcription	Osteobl	bone
36	chr21:16388800-16407000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr21:16389000-16400200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr21:16389000-16405800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr21:16389800-16401600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr21:16391200-16404200	Weak transcription	NH-A	brain
41	chr21:16391200-16406800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr21:16393800-16404800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr21:16393800-16406600	Weak transcription	Primary T cells from cord blood	blood
44	chr21:16393800-16406800	Weak transcription	Dnd41	blood
45	chr21:16394000-16404400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr21:16394400-16406200	Weak transcription	HMEC	breast
47	chr21:16395200-16402200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr21:16395600-16402400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr21:16395600-16406800	Weak transcription	NHEK	skin
50	chr21:16396200-16403200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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