Variant report

Variant	rs7279180
Chromosome Location	chr21:37779378-37779379
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37778485..37781946-chr21:37785788..37788759,4	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2898286	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56382962	0.81[EUR][1000 genomes]
rs67648865	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67850591	0.96[EUR][1000 genomes]
rs67986303	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68081676	0.96[EUR][1000 genomes]
rs7275524	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9754126	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

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	chr21:37758600-37780400	Weak transcription	HUVEC	blood vessel
7	chr21:37758600-37783600	Weak transcription	Brain Germinal Matrix	brain
8	chr21:37758600-37783800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr21:37758600-37783800	Weak transcription	Spleen	Spleen
10	chr21:37758600-37785000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr21:37758600-37785000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr21:37758600-37785600	Weak transcription	Adipose Nuclei	Adipose
13	chr21:37758600-37787400	Weak transcription	Primary B cells from cord blood	blood
14	chr21:37758600-37790600	Weak transcription	Brain Anterior Caudate	brain
15	chr21:37758600-37790800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr21:37758600-37791000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr21:37758600-37793400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr21:37758600-37794200	Weak transcription	Liver	Liver
19	chr21:37758600-37797600	Weak transcription	HSMM	muscle
20	chr21:37758800-37780400	Weak transcription	Fetal Lung	lung
21	chr21:37758800-37785200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr21:37758800-37785200	Weak transcription	Pancreas	Pancrea
23	chr21:37758800-37785400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr21:37758800-37795000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr21:37759000-37780400	Weak transcription	Hela-S3	cervix
26	chr21:37761600-37790600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr21:37761600-37792200	Weak transcription	Brain Angular Gyrus	brain
28	chr21:37761600-37792400	Weak transcription	Brain Hippocampus Middle	brain
29	chr21:37762800-37790200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr21:37763000-37785000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr21:37765800-37783600	Weak transcription	Fetal Intestine Large	intestine
32	chr21:37766000-37779400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr21:37766000-37793000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:37766800-37794800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr21:37768400-37794000	Weak transcription	Psoas Muscle	Psoas
36	chr21:37769400-37790000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr21:37769600-37783600	Weak transcription	Gastric	stomach
38	chr21:37769600-37784400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr21:37770000-37794200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr21:37772200-37785600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr21:37773000-37785200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr21:37773200-37780400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr21:37773200-37783800	Weak transcription	HepG2	liver
44	chr21:37773200-37792200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr21:37773400-37780400	Weak transcription	Esophagus	oesophagus
46	chr21:37773400-37785600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr21:37773600-37783000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr21:37774600-37792400	Weak transcription	Fetal Brain Male	brain
49	chr21:37774800-37785000	Weak transcription	Fetal Brain Female	brain
50	chr21:37775200-37784400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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