Variant report

Variant	rs8127734
Chromosome Location	chr21:17231580-17231581
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	chr21:17165873..17167703-chr21:17229304..17232137,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1022457	0.99[ASN][1000 genomes]
rs2252133	0.90[EUR][1000 genomes]
rs2823502	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2823503	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2823504	0.92[ASN][1000 genomes]
rs2823506	0.83[ASN][1000 genomes]
rs2823507	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2823509	0.90[EUR][1000 genomes]
rs2823510	0.99[ASN][1000 genomes]
rs2823511	0.99[ASN][1000 genomes]
rs2823516	0.86[EUR][1000 genomes]
rs2823517	0.97[ASN][1000 genomes]
rs28469763	0.85[ASN][1000 genomes]
rs28679848	0.80[EUR][1000 genomes]
rs392203	0.90[ASN][1000 genomes]
rs7283467	0.84[EUR][1000 genomes]
rs8127570	0.92[ASN][1000 genomes]
rs9980260	0.90[ASN][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	nsv834050	chr21:17146090-17348951	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr21:17155200-17252800	Weak transcription	Fetal Brain Male	brain
2	chr21:17178400-17248200	Weak transcription	Esophagus	oesophagus
3	chr21:17178400-17252800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr21:17188000-17240200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr21:17188200-17246800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr21:17188400-17247200	Weak transcription	Ovary	ovary
7	chr21:17188400-17253200	Weak transcription	Fetal Brain Female	brain
8	chr21:17188800-17247000	Weak transcription	Brain Germinal Matrix	brain
9	chr21:17188800-17252600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr21:17190200-17245400	Weak transcription	Lung	lung
11	chr21:17190200-17247200	Weak transcription	Pancreas	Pancrea
12	chr21:17190400-17247200	Weak transcription	Spleen	Spleen
13	chr21:17190400-17247400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr21:17198000-17248000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr21:17199800-17246800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr21:17199800-17247200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:17200800-17245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr21:17201400-17245400	Weak transcription	Fetal Stomach	stomach
19	chr21:17204400-17239000	Weak transcription	Brain Substantia Nigra	brain
20	chr21:17204400-17246400	Weak transcription	Brain Angular Gyrus	brain
21	chr21:17204400-17246800	Weak transcription	Brain Anterior Caudate	brain
22	chr21:17204600-17247800	Weak transcription	HepG2	liver
23	chr21:17204600-17252800	Weak transcription	Brain Hippocampus Middle	brain
24	chr21:17210400-17252600	Weak transcription	Aorta	Aorta
25	chr21:17210600-17239000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr21:17210600-17245400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr21:17210600-17247200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr21:17211000-17245400	Weak transcription	Fetal Intestine Small	intestine
29	chr21:17211000-17246600	Weak transcription	Colon Smooth Muscle	Colon
30	chr21:17214200-17245400	Weak transcription	Gastric	stomach
31	chr21:17214600-17237800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr21:17215000-17236600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr21:17215000-17240600	Weak transcription	Fetal Muscle Leg	muscle
34	chr21:17215000-17240600	Weak transcription	HSMMtube	muscle
35	chr21:17215000-17245200	Weak transcription	Fetal Kidney	kidney
36	chr21:17215000-17245400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr21:17215200-17239200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr21:17215200-17241000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr21:17215200-17245400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr21:17215400-17237000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr21:17215600-17236600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr21:17215600-17239000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr21:17215600-17241200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr21:17215600-17252200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr21:17216600-17236800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr21:17216600-17237600	Weak transcription	K562	blood
47	chr21:17216600-17237800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr21:17216600-17238800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr21:17218800-17237800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr21:17221000-17252800	Weak transcription	Thymus	Thymus

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