Variant report

Variant	rs73371146
Chromosome Location	chr21:45337585-45337586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45284356..45288156-chr21:45335500..45338176,5	K562	blood:
2	chr21:45278801..45280900-chr21:45336641..45338168,2	MCF-7	breast:
3	chr21:45249077..45249616-chr21:45337283..45338226,2	K562	blood:
4	chr21:45294560..45296839-chr21:45337509..45339121,2	K562	blood:
5	chr21:45283510..45287238-chr21:45336572..45339046,5	MCF-7	breast:
6	chr21:45289119..45291555-chr21:45336176..45338160,3	K562	blood:
7	chr21:45289119..45291947-chr21:45336176..45338497,2	K562	blood:
8	chr21:45334570..45338840-chr21:45339112..45343099,4	MCF-7	breast:
9	chr21:45282036..45289054-chr21:45334704..45338842,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction
ENSG00000199598	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2248918	0.86[ASN][1000 genomes]
rs2838442	0.82[AFR][1000 genomes]
rs73371158	0.81[ASN][1000 genomes]
rs73371168	0.82[AFR][1000 genomes]
rs8134181	0.83[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	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
4	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45332800-45340000	Weak transcription	Fetal Kidney	kidney
2	chr21:45333000-45341000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr21:45333000-45341200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr21:45333600-45340400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:45334200-45337800	Weak transcription	HepG2	liver
6	chr21:45334200-45338000	Weak transcription	Fetal Intestine Large	intestine
7	chr21:45334200-45341000	Weak transcription	Placenta	Placenta
8	chr21:45334200-45341200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr21:45334800-45340000	Weak transcription	Psoas Muscle	Psoas
10	chr21:45336000-45337800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:45336000-45344400	Enhancers	Liver	Liver
12	chr21:45336200-45337600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr21:45336200-45337600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr21:45336200-45337600	Enhancers	Fetal Heart	heart
15	chr21:45336200-45338400	Enhancers	Left Ventricle	heart
16	chr21:45336400-45337600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr21:45336400-45337600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr21:45336400-45337600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr21:45336400-45337600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr21:45336400-45351600	Weak transcription	Fetal Brain Female	brain
21	chr21:45336600-45337600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr21:45336600-45337600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr21:45336600-45337600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr21:45336600-45337600	Flanking Active TSS	Fetal Thymus	thymus
25	chr21:45336600-45337600	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr21:45336600-45337600	Flanking Active TSS	Thymus	Thymus
27	chr21:45336600-45337600	Enhancers	Dnd41	blood
28	chr21:45336600-45337800	Enhancers	Pancreas	Pancrea
29	chr21:45336600-45338200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr21:45336800-45337600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr21:45336800-45337600	Enhancers	Brain Cingulate Gyrus	brain
32	chr21:45336800-45338200	Enhancers	Esophagus	oesophagus
33	chr21:45336800-45338200	Enhancers	Lung	lung
34	chr21:45336800-45338800	Enhancers	Spleen	Spleen
35	chr21:45336800-45339800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr21:45336800-45341200	Weak transcription	Fetal Lung	lung
37	chr21:45337000-45337600	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr21:45337000-45337600	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr21:45337000-45337600	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr21:45337000-45338000	Weak transcription	HSMM	muscle
41	chr21:45337000-45338200	Enhancers	Right Ventricle	heart
42	chr21:45337000-45338800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr21:45337000-45340000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr21:45337000-45340000	Weak transcription	Fetal Muscle Leg	muscle
45	chr21:45337000-45342000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr21:45337200-45337600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr21:45337200-45337600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr21:45337200-45337600	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr21:45337200-45337600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr21:45337200-45337600	Enhancers	Ovary	ovary

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