Variant report

Variant	rs1997577
Chromosome Location	chr21:16371102-16371103
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16370323..16372974-chr21:16375206..16377799,2	K562	blood:
2	chr21:16368212..16371193-chr21:16372878..16374809,2	K562	blood:

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:19)

rs_ID	r²[population]
rs1041404	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2251399	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2822998	0.81[JPT][hapmap]
rs2823002	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2823003	0.87[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2823006	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823007	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2823009	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2823017	0.86[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs2823022	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap]
rs28574812	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6517179	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6517180	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7280064	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7281871	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7282769	0.84[ASN][1000 genomes]
rs8132398	0.85[CEU][hapmap]
rs9305530	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9982976	0.87[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16340600-16372800	Weak transcription	GM12878-XiMat	blood
2	chr21:16340600-16374200	Weak transcription	Aorta	Aorta
3	chr21:16340600-16375800	Weak transcription	Right Ventricle	heart
4	chr21:16340800-16373400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr21:16340800-16374400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr21:16340800-16375800	Weak transcription	Gastric	stomach
7	chr21:16340800-16375800	Weak transcription	Lung	lung
8	chr21:16340800-16377600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr21:16341200-16388600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr21:16341600-16377000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr21:16358800-16377600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr21:16360200-16374200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr21:16360400-16380200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr21:16360400-16402600	Weak transcription	Placenta	Placenta
15	chr21:16360800-16373400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr21:16361600-16374600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:16361800-16372600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr21:16361800-16374000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr21:16361800-16375800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr21:16362200-16373400	Weak transcription	Brain Hippocampus Middle	brain
21	chr21:16362200-16377600	Weak transcription	Fetal Stomach	stomach
22	chr21:16362200-16385800	Weak transcription	K562	blood
23	chr21:16362600-16371600	Weak transcription	Colon Smooth Muscle	Colon
24	chr21:16362600-16374200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr21:16362800-16373400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr21:16363400-16383000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr21:16363600-16371200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr21:16363600-16373400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr21:16363600-16375800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr21:16363600-16377600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr21:16363600-16377600	Weak transcription	Thymus	Thymus
32	chr21:16363800-16376800	Weak transcription	Dnd41	blood
33	chr21:16364000-16374200	Weak transcription	Primary T cells from cord blood	blood
34	chr21:16364000-16374400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr21:16364600-16372400	Weak transcription	Liver	Liver
36	chr21:16364800-16423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr21:16365000-16373400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr21:16365600-16371800	Weak transcription	Primary B cells from cord blood	blood
39	chr21:16366000-16379000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr21:16366200-16375800	Weak transcription	Fetal Thymus	thymus
41	chr21:16367000-16372800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr21:16367800-16372000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr21:16367800-16373600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr21:16368600-16374800	Enhancers	HepG2	liver
45	chr21:16368600-16414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr21:16368800-16372000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr21:16368800-16372200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr21:16368800-16372400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr21:16368800-16373600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr21:16368800-16374600	Weak transcription	Esophagus	oesophagus

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