Variant report

Variant	rs73385706
Chromosome Location	chr21:37783912-37783913
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37757048..37759792-chr21:37781964..37785698,3	K562	blood:

Variant related genes	Relation type
ENSG00000159259	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10483033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2230637	1.00[AMR][1000 genomes]
rs28688747	1.00[EUR][1000 genomes]
rs57154050	1.00[AMR][1000 genomes];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]
rs73383722	1.00[EUR][1000 genomes]
rs73383726	1.00[AMR][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	nsv1064194	chr21:37782214-37819820	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr21:37758400-37788000	Weak transcription	Colonic Mucosa	Colon
2	chr21:37758400-37792200	Weak transcription	Fetal Kidney	kidney
3	chr21:37758400-37793400	Weak transcription	Aorta	Aorta
4	chr21:37758400-37794600	Weak transcription	Left Ventricle	heart
5	chr21:37758400-37794800	Weak transcription	Right Ventricle	heart
6	chr21:37758600-37785000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr21:37758600-37785000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr21:37758600-37785600	Weak transcription	Adipose Nuclei	Adipose
9	chr21:37758600-37787400	Weak transcription	Primary B cells from cord blood	blood
10	chr21:37758600-37790600	Weak transcription	Brain Anterior Caudate	brain
11	chr21:37758600-37790800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr21:37758600-37791000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr21:37758600-37793400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr21:37758600-37794200	Weak transcription	Liver	Liver
15	chr21:37758600-37797600	Weak transcription	HSMM	muscle
16	chr21:37758800-37785200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr21:37758800-37785200	Weak transcription	Pancreas	Pancrea
18	chr21:37758800-37785400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr21:37758800-37795000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr21:37761600-37790600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr21:37761600-37792200	Weak transcription	Brain Angular Gyrus	brain
22	chr21:37761600-37792400	Weak transcription	Brain Hippocampus Middle	brain
23	chr21:37762800-37790200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:37763000-37785000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr21:37766000-37793000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr21:37766800-37794800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr21:37768400-37794000	Weak transcription	Psoas Muscle	Psoas
28	chr21:37769400-37790000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr21:37769600-37784400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr21:37770000-37794200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr21:37772200-37785600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr21:37773000-37785200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr21:37773200-37792200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr21:37773400-37785600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr21:37774600-37792400	Weak transcription	Fetal Brain Male	brain
36	chr21:37774800-37785000	Weak transcription	Fetal Brain Female	brain
37	chr21:37775200-37784400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr21:37775400-37785000	Weak transcription	Ovary	ovary
39	chr21:37775400-37785600	Weak transcription	NHDF-Ad	bronchial
40	chr21:37775400-37788200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr21:37775600-37784400	Weak transcription	NHEK	skin
42	chr21:37775600-37794800	Weak transcription	Right Atrium	heart
43	chr21:37775600-37802200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr21:37776000-37785000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr21:37776200-37785000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr21:37776200-37785200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr21:37776200-37785600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr21:37776200-37785600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr21:37776200-37794200	Weak transcription	NH-A	brain
50	chr21:37776200-37797400	Weak transcription	HSMMtube	muscle

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