Variant report

Variant	rs2823016
Chromosome Location	chr21:16413061-16413062
allele	C/T
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	chr21:16410559..16414183-chr21:16436121..16439359,3	MCF-7	breast:
4	chr21:16406540..16409317-chr21:16411969..16415649,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12329892	0.82[JPT][hapmap]
rs13052479	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2823012	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2823013	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823014	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823015	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28653583	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3787575	0.82[JPT][hapmap]
rs56160483	0.82[AMR][1000 genomes]
rs58630413	0.88[ASN][1000 genomes]
rs7279087	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7281038	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8127763	0.91[ASW][hapmap];1.00[CEU][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs9979082	0.93[EUR][1000 genomes]
rs9985102	0.96[AMR][1000 genomes];0.88[EUR][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:95 , 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	chr21:16386000-16413200	Weak transcription	K562	blood
10	chr21:16397200-16413200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:16400000-16423200	Weak transcription	Fetal Stomach	stomach
12	chr21:16400200-16423200	Weak transcription	Brain Hippocampus Middle	brain
13	chr21:16400800-16423000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr21:16401400-16423000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr21:16401600-16423000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr21:16401600-16426400	Weak transcription	HUVEC	blood vessel
17	chr21:16401800-16413200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr21:16401800-16413200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr21:16402200-16414800	Weak transcription	Pancreas	Pancrea
20	chr21:16402400-16414600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr21:16402400-16416200	Weak transcription	Right Ventricle	heart
22	chr21:16402400-16420600	Weak transcription	Brain Angular Gyrus	brain
23	chr21:16403200-16414800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr21:16403400-16414600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:16403400-16414600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr21:16403600-16423200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:16404400-16414600	Weak transcription	Fetal Muscle Leg	muscle
28	chr21:16405000-16413200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr21:16405200-16414600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr21:16405800-16414600	Weak transcription	GM12878-XiMat	blood
31	chr21:16406800-16413200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr21:16406800-16414600	Weak transcription	HSMMtube	muscle
33	chr21:16406800-16421000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr21:16407000-16414600	Weak transcription	Fetal Lung	lung
35	chr21:16407000-16420600	Weak transcription	Thymus	Thymus
36	chr21:16407000-16422000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr21:16407000-16423400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr21:16407200-16414600	Weak transcription	NHLF	lung
39	chr21:16407400-16414600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr21:16407400-16414600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr21:16407400-16420600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr21:16407400-16421800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr21:16407400-16422000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr21:16407400-16422600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr21:16407400-16422600	Weak transcription	Brain Anterior Caudate	brain
46	chr21:16407400-16425600	Weak transcription	NHDF-Ad	bronchial
47	chr21:16407400-16431200	Weak transcription	NHEK	skin
48	chr21:16407600-16414600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr21:16407800-16414800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr21:16408200-16414600	Weak transcription	Fetal Thymus	thymus

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