Variant report

Variant	rs73383722
Chromosome Location	chr21:37751033-37751034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:37746140..37748038-chr21:37748228..37751110,2	K562	blood:
2	chr21:37748856..37751728-chr21:37751922..37754772,2	K562	blood:
3	chr21:37748599..37752087-chr21:37754923..37758678,7	K562	blood:
4	chr21:37748599..37752691-chr21:37754899..37758635,10	K562	blood:
5	chr21:37750584..37752894-chr21:37761341..37762946,2	K562	blood:

Variant related genes	Relation type
ENSG00000224421	Chromatin interaction
ENSG00000159259	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10483033	1.00[EUR][1000 genomes]
rs11909470	1.00[EUR][1000 genomes]
rs11909757	1.00[EUR][1000 genomes]
rs11910005	1.00[EUR][1000 genomes]
rs11910447	1.00[EUR][1000 genomes]
rs11911904	1.00[EUR][1000 genomes]
rs16994069	1.00[EUR][1000 genomes]
rs28688747	1.00[EUR][1000 genomes]
rs57154050	1.00[EUR][1000 genomes]
rs59261999	1.00[EUR][1000 genomes]
rs59270005	1.00[EUR][1000 genomes]
rs61094968	1.00[EUR][1000 genomes]
rs73381587	1.00[EUR][1000 genomes]
rs73381588	1.00[EUR][1000 genomes]
rs73381599	1.00[EUR][1000 genomes]
rs73381601	1.00[EUR][1000 genomes]
rs73383707	1.00[EUR][1000 genomes]
rs73383713	1.00[EUR][1000 genomes]
rs73383714	1.00[EUR][1000 genomes]
rs73383715	1.00[EUR][1000 genomes]
rs73385706	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1796009	chr21:37708503-37763979	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37699400-37757600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:37701600-37751400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:37704800-37751400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr21:37705600-37751400	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr21:37705800-37751200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr21:37705800-37751200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr21:37708600-37751400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr21:37711400-37757600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr21:37722800-37757400	Weak transcription	Right Atrium	heart
10	chr21:37722800-37757600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr21:37724800-37751400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:37726400-37751200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr21:37727000-37751200	Strong transcription	Placenta	Placenta
14	chr21:37727600-37751400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr21:37737000-37757000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr21:37742200-37757400	Weak transcription	Stomach Mucosa	stomach
17	chr21:37742200-37757600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:37743200-37757400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr21:37744000-37757200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr21:37745200-37751600	Weak transcription	Fetal Heart	heart
21	chr21:37745400-37757600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr21:37745600-37757400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr21:37746000-37757200	Weak transcription	Colon Smooth Muscle	Colon
24	chr21:37746400-37754200	Weak transcription	A549	lung
25	chr21:37746600-37757200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr21:37747200-37757200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr21:37747200-37757400	Weak transcription	Colonic Mucosa	Colon
28	chr21:37747200-37757600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr21:37747400-37757400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr21:37748200-37757200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr21:37748200-37758000	Weak transcription	Fetal Brain Male	brain
32	chr21:37748400-37756800	Weak transcription	K562	blood
33	chr21:37750000-37754400	Weak transcription	HUVEC	blood vessel
34	chr21:37750000-37757200	Weak transcription	Brain Substantia Nigra	brain
35	chr21:37750200-37757200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr21:37750200-37757200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr21:37750200-37757200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr21:37750400-37751400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr21:37750400-37752000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr21:37750400-37752400	Weak transcription	Brain Hippocampus Middle	brain
41	chr21:37750400-37752400	Weak transcription	HSMMtube	muscle
42	chr21:37750400-37754000	Weak transcription	Pancreas	Pancrea
43	chr21:37750400-37754400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr21:37750400-37754400	Weak transcription	Hela-S3	cervix
45	chr21:37750400-37754400	Weak transcription	HepG2	liver
46	chr21:37750400-37756600	Weak transcription	Osteobl	bone
47	chr21:37750400-37756800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr21:37750400-37756800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr21:37750400-37757000	Weak transcription	Fetal Intestine Small	intestine
50	chr21:37750400-37757000	Weak transcription	Fetal Lung	lung

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