Variant report

Variant	rs2823017
Chromosome Location	chr21:16413658-16413659
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16413029..16416695-chr21:16417733..16422719,4	MCF-7	breast:
2	chr21:16404641..16407621-chr21:16410737..16413727,2	K562	blood:
3	chr21:16413139..16415983-chr21:16435318..16439452,4	MCF-7	breast:
4	chr21:16410559..16414183-chr21:16436121..16439359,3	MCF-7	breast:
5	chr21:16406540..16409317-chr21:16411969..16415649,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction
ENSG00000236471	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1041404	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.85[MKK][hapmap];0.98[ASN][1000 genomes]
rs1997577	0.86[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs2142216	0.85[ASN][1000 genomes]
rs2142218	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2248589	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2403873	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2403874	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2823003	0.94[GIH][hapmap];0.93[TSI][hapmap]
rs2823022	0.86[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823026	0.89[GIH][hapmap]
rs2823027	0.81[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs2823029	0.81[CHB][hapmap]
rs4356736	0.85[ASN][1000 genomes]
rs7280064	0.86[CEU][hapmap];0.87[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap]
rs8132398	0.94[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8133012	0.81[ASN][1000 genomes]
rs8133792	0.87[ASN][1000 genomes]
rs9982976	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]

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	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	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16364800-16423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:16368600-16414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr21:16374800-16423200	Weak transcription	Colonic Mucosa	Colon
4	chr21:16379600-16414800	Weak transcription	Left Ventricle	heart
5	chr21:16379600-16414800	Weak transcription	Ovary	ovary
6	chr21:16380600-16414600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr21:16382000-16414600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr21:16383400-16414600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr21:16400000-16423200	Weak transcription	Fetal Stomach	stomach
10	chr21:16400200-16423200	Weak transcription	Brain Hippocampus Middle	brain
11	chr21:16400800-16423000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr21:16401400-16423000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr21:16401600-16423000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr21:16401600-16426400	Weak transcription	HUVEC	blood vessel
15	chr21:16402200-16414800	Weak transcription	Pancreas	Pancrea
16	chr21:16402400-16414600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr21:16402400-16416200	Weak transcription	Right Ventricle	heart
18	chr21:16402400-16420600	Weak transcription	Brain Angular Gyrus	brain
19	chr21:16403200-16414800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr21:16403400-16414600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr21:16403400-16414600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr21:16403600-16423200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr21:16404400-16414600	Weak transcription	Fetal Muscle Leg	muscle
24	chr21:16405200-16414600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr21:16405800-16414600	Weak transcription	GM12878-XiMat	blood
26	chr21:16406800-16414600	Weak transcription	HSMMtube	muscle
27	chr21:16406800-16421000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr21:16407000-16414600	Weak transcription	Fetal Lung	lung
29	chr21:16407000-16420600	Weak transcription	Thymus	Thymus
30	chr21:16407000-16422000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr21:16407000-16423400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr21:16407200-16414600	Weak transcription	NHLF	lung
33	chr21:16407400-16414600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr21:16407400-16414600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr21:16407400-16420600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr21:16407400-16421800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr21:16407400-16422000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr21:16407400-16422600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr21:16407400-16422600	Weak transcription	Brain Anterior Caudate	brain
40	chr21:16407400-16425600	Weak transcription	NHDF-Ad	bronchial
41	chr21:16407400-16431200	Weak transcription	NHEK	skin
42	chr21:16407600-16414600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr21:16407800-16414800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr21:16408200-16414600	Weak transcription	Fetal Thymus	thymus
45	chr21:16408600-16414200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr21:16408600-16425800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr21:16408800-16423800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr21:16409000-16414400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr21:16409000-16414400	Weak transcription	Liver	Liver
50	chr21:16409400-16414600	Weak transcription	Primary T cells from cord blood	blood

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