Variant report

Variant	rs28574812
Chromosome Location	chr21:16384940-16384941
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16384405..16386106-chr21:16392542..16394997,2	K562	blood:
2	chr21:16383232..16385485-chr21:16435985..16437706,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction

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

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

rs_ID	r²[population]
rs13052079	0.95[ASN][1000 genomes]
rs1997577	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2178893	0.95[ASN][1000 genomes]
rs2251399	0.94[EUR][1000 genomes]
rs2823002	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2823003	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2823006	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2823007	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2823009	0.98[EUR][1000 genomes]
rs6517179	0.98[EUR][1000 genomes]
rs6517180	0.98[EUR][1000 genomes]
rs7281871	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7282769	0.92[ASN][1000 genomes]
rs7283762	0.87[ASN][1000 genomes]
rs9305530	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv517307	chr21:16382148-16387903	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	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
7	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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16341200-16388600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr21:16360400-16402600	Weak transcription	Placenta	Placenta
3	chr21:16362200-16385800	Weak transcription	K562	blood
4	chr21:16364800-16423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:16368600-16414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr21:16374800-16394600	Weak transcription	GM12878-XiMat	blood
7	chr21:16374800-16423200	Weak transcription	Colonic Mucosa	Colon
8	chr21:16375800-16387000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr21:16376200-16392200	Weak transcription	Lung	lung
10	chr21:16376200-16401600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:16376600-16401800	Weak transcription	Fetal Muscle Leg	muscle
12	chr21:16378000-16387400	Weak transcription	HMEC	breast
13	chr21:16378000-16387400	Weak transcription	NHEK	skin
14	chr21:16378000-16388600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr21:16378200-16387400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr21:16378200-16390600	Weak transcription	Brain Substantia Nigra	brain
17	chr21:16378400-16400600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr21:16378600-16398200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr21:16378800-16388800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr21:16378800-16390600	Weak transcription	Colon Smooth Muscle	Colon
21	chr21:16378800-16406000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr21:16379000-16400400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr21:16379400-16386800	Weak transcription	Brain Angular Gyrus	brain
24	chr21:16379400-16386800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr21:16379400-16390800	Weak transcription	Brain Anterior Caudate	brain
26	chr21:16379400-16400800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr21:16379400-16401200	Weak transcription	Small Intestine	intestine
28	chr21:16379600-16388200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr21:16379600-16388400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr21:16379600-16388400	Weak transcription	HUVEC	blood vessel
31	chr21:16379600-16393200	Weak transcription	Thymus	Thymus
32	chr21:16379600-16401600	Weak transcription	Right Ventricle	heart
33	chr21:16379600-16403000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr21:16379600-16414800	Weak transcription	Left Ventricle	heart
35	chr21:16379600-16414800	Weak transcription	Ovary	ovary
36	chr21:16379800-16385600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr21:16379800-16390600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr21:16379800-16399400	Weak transcription	Fetal Lung	lung
39	chr21:16379800-16406400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr21:16380000-16388200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr21:16380000-16393000	Weak transcription	Primary T cells from cord blood	blood
42	chr21:16380400-16387800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr21:16380600-16400000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr21:16380600-16400400	Weak transcription	Fetal Intestine Small	intestine
45	chr21:16380600-16414600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr21:16381000-16385200	Weak transcription	Primary B cells from cord blood	blood
47	chr21:16381000-16393600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr21:16381000-16400400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr21:16381000-16403200	Weak transcription	Fetal Thymus	thymus
50	chr21:16381200-16386000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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