Variant report

Variant	rs73373134
Chromosome Location	chr21:45395921-45395922
allele	A/G
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45208219..45210137-chr21:45395159..45396990,2	K562	blood:
2	chr21:45358600..45359641-chr21:45394697..45395938,6	MCF-7	breast:
3	chr21:45230369..45231282-chr21:45395339..45396518,7	MCF-7	breast:
4	chr21:45229733..45231938-chr21:45394132..45396009,2	K562	blood:
5	chr21:45227305..45229714-chr21:45393817..45396583,3	K562	blood:
6	chr21:45365594..45366129-chr21:45395439..45396237,2	MCF-7	breast:
7	chr21:45230307..45231804-chr21:45394981..45396219,10	MCF-7	breast:
8	chr21:45349394..45350688-chr21:45394837..45395974,5	MCF-7	breast:
9	chr21:45283111..45285843-chr21:45394745..45397067,2	K562	blood:
10	chr21:45358568..45359567-chr21:45394821..45396082,11	MCF-7	breast:
11	chr21:45371594..45373421-chr21:45394016..45396478,2	K562	blood:
12	chr21:45393503..45396203-chr21:45397849..45399605,2	MCF-7	breast:
13	chr21:45394026..45396838-chr21:45529562..45532299,2	K562	blood:
14	chr21:45283523..45287177-chr21:45394995..45398783,3	MCF-7	breast:
15	chr21:45230354..45231265-chr21:45395061..45396060,7	K562	blood:
16	chr21:45386923..45389189-chr21:45394639..45396449,2	K562	blood:
17	chr21:45248952..45249750-chr21:45395021..45396037,3	MCF-7	breast:
18	chr21:45224876..45229128-chr21:45393312..45396699,5	K562	blood:
19	chr21:45222905..45225247-chr21:45394812..45396880,2	MCF-7	breast:
20	chr21:45395089..45398039-chr21:45405481..45407221,3	MCF-7	breast:
21	chr21:45208977..45209500-chr21:45395548..45396148,2	MCF-7	breast:
22	chr21:45395550..45398275-chr21:45399563..45401306,2	K562	blood:
23	chr21:45394072..45397426-chr21:45398939..45402016,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160214	Chromatin interaction
ENSG00000215458	Chromatin interaction
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11537798	0.96[EUR][1000 genomes]
rs11911398	0.96[EUR][1000 genomes]
rs17004619	0.96[EUR][1000 genomes]
rs2000787	0.81[ASN][1000 genomes]
rs2838452	0.84[ASN][1000 genomes]
rs2838453	0.84[ASN][1000 genomes]
rs2838454	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2838457	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2838461	0.96[EUR][1000 genomes]
rs6518340	0.81[ASN][1000 genomes]
rs6518342	0.84[ASN][1000 genomes]
rs7276691	0.84[ASN][1000 genomes]
rs7281203	0.84[ASN][1000 genomes]
rs73373146	0.96[EUR][1000 genomes]
rs73373152	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73906692	0.90[EUR][1000 genomes]
rs73906701	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8133463	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv3337810	chr21:45392724-45396322	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3352585	chr21:45392724-45396422	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3343048	chr21:45392824-45397222	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv3361528	chr21:45393774-45396272	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45377000-45398400	Weak transcription	A549	lung
2	chr21:45377000-45400800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr21:45378200-45403800	Strong transcription	Dnd41	blood
4	chr21:45378600-45400800	Weak transcription	NH-A	brain
5	chr21:45378800-45420200	Weak transcription	Right Atrium	heart
6	chr21:45379000-45406000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr21:45379600-45405000	Weak transcription	NHDF-Ad	bronchial
8	chr21:45380400-45399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr21:45381600-45400800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr21:45382000-45402600	Weak transcription	Small Intestine	intestine
11	chr21:45383200-45405400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr21:45383200-45405400	Weak transcription	Hela-S3	cervix
13	chr21:45383400-45398000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr21:45383400-45405200	Weak transcription	HUVEC	blood vessel
15	chr21:45387600-45401400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr21:45389600-45401200	Weak transcription	Psoas Muscle	Psoas
17	chr21:45391600-45406800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:45391800-45399800	Weak transcription	Primary B cells from cord blood	blood
19	chr21:45392000-45406800	Weak transcription	NHEK	skin
20	chr21:45392200-45397800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:45392200-45398400	Weak transcription	Colonic Mucosa	Colon
22	chr21:45392600-45397800	Weak transcription	Colon Smooth Muscle	Colon
23	chr21:45392800-45396600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr21:45392800-45398000	Weak transcription	Osteobl	bone
25	chr21:45393000-45397200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr21:45393000-45397800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr21:45393000-45405200	Weak transcription	HepG2	liver
28	chr21:45393200-45397000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr21:45393200-45397200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr21:45393200-45397200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr21:45393200-45398000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr21:45393200-45399400	Weak transcription	Primary T cells from cord blood	blood
33	chr21:45393200-45401000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr21:45393200-45413800	Weak transcription	HSMMtube	muscle
35	chr21:45393400-45397200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr21:45393400-45397200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr21:45393400-45397800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr21:45393400-45397800	Weak transcription	Fetal Brain Female	brain
39	chr21:45393600-45396600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr21:45393600-45397800	Weak transcription	Adipose Nuclei	Adipose
41	chr21:45393600-45401000	Weak transcription	Aorta	Aorta
42	chr21:45393800-45396000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr21:45393800-45396600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr21:45393800-45396600	Weak transcription	Thymus	Thymus
45	chr21:45393800-45397800	Weak transcription	Brain Germinal Matrix	brain
46	chr21:45393800-45398000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr21:45393800-45400400	Weak transcription	NHLF	lung
48	chr21:45394000-45397200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr21:45394800-45398600	Enhancers	Stomach Mucosa	stomach
50	chr21:45395000-45396200	Weak transcription	Monocytes-CD14+_RO01746	blood

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