Variant report

Variant	rs9983248
Chromosome Location	chr21:17192264-17192265
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:17185700..17188175-chr21:17191244..17192922,2	K562	blood:
2	chr21:17101749..17103791-chr21:17190119..17192842,2	K562	blood:
3	chr21:17188442..17191179-chr21:17191582..17194063,2	MCF-7	breast:
4	chr21:17186675..17188666-chr21:17191244..17193350,2	K562	blood:

Variant related genes	Relation type
ENSG00000155313	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1022457	0.84[EUR][1000 genomes]
rs11909953	0.82[AFR][1000 genomes]
rs11910884	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17241409	0.81[EUR][1000 genomes]
rs17241444	0.84[EUR][1000 genomes]
rs17241460	0.95[EUR][1000 genomes]
rs17241481	0.95[EUR][1000 genomes]
rs17275511	0.94[EUR][1000 genomes]
rs17307176	0.94[EUR][1000 genomes]
rs17307190	0.95[EUR][1000 genomes]
rs17307197	0.95[EUR][1000 genomes]
rs17307204	0.95[EUR][1000 genomes]
rs2026853	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2205585	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2205588	0.95[EUR][1000 genomes]
rs2205589	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2223176	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2242676	0.81[EUR][1000 genomes]
rs2242680	0.95[EUR][1000 genomes]
rs2242681	0.95[EUR][1000 genomes]
rs2245574	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2404000	0.95[EUR][1000 genomes]
rs2823471	0.84[EUR][1000 genomes]
rs2823476	0.82[AFR][1000 genomes]
rs2823478	0.81[EUR][1000 genomes]
rs2823482	0.82[AFR][1000 genomes]
rs2823489	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2823491	0.87[EUR][1000 genomes]
rs2823493	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823495	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2823496	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2823497	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823498	0.94[EUR][1000 genomes]
rs2823499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823500	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2823502	0.87[AFR][1000 genomes]
rs2823503	0.87[AFR][1000 genomes]
rs2823504	0.81[EUR][1000 genomes]
rs2823505	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2823510	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2823511	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2823513	0.81[EUR][1000 genomes]
rs3787577	0.94[EUR][1000 genomes]
rs56666611	0.82[EUR][1000 genomes]
rs59084861	0.95[EUR][1000 genomes]
rs6517648	0.84[AFR][1000 genomes]
rs6517652	0.85[AFR][1000 genomes]
rs6517675	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7278727	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7281511	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7283707	0.81[AFR][1000 genomes]
rs73346766	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73346769	0.93[EUR][1000 genomes]
rs73357260	0.82[EUR][1000 genomes]
rs8127570	0.81[EUR][1000 genomes]
rs8128073	0.94[EUR][1000 genomes]
rs8128766	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8132755	0.82[AFR][1000 genomes]
rs8133079	0.95[EUR][1000 genomes]
rs9974210	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9976815	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9977000	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9977069	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9981766	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9983385	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9983858	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][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	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
2	nsv1063035	chr21:17154222-17224344	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17155200-17197600	Weak transcription	Fetal Heart	heart
2	chr21:17155200-17199200	Weak transcription	Right Ventricle	heart
3	chr21:17155200-17203800	Weak transcription	Colon Smooth Muscle	Colon
4	chr21:17155200-17209800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr21:17155200-17252800	Weak transcription	Fetal Brain Male	brain
6	chr21:17169000-17194200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr21:17174400-17193000	Weak transcription	NHEK	skin
8	chr21:17176000-17198200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr21:17177200-17208800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr21:17178400-17248200	Weak transcription	Esophagus	oesophagus
11	chr21:17178400-17252800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr21:17178800-17211400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr21:17179800-17192400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr21:17180400-17193000	Weak transcription	NHDF-Ad	bronchial
15	chr21:17180800-17199200	Weak transcription	HSMMtube	muscle
16	chr21:17182400-17227800	Weak transcription	Psoas Muscle	Psoas
17	chr21:17183400-17192600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr21:17183400-17192800	Weak transcription	Osteobl	bone
19	chr21:17184000-17203800	Weak transcription	Brain Hippocampus Middle	brain
20	chr21:17184000-17209800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr21:17185800-17194200	Weak transcription	Hela-S3	cervix
22	chr21:17186200-17204200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr21:17187000-17194000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr21:17187400-17192600	Strong transcription	Adipose Nuclei	Adipose
25	chr21:17187400-17192600	Strong transcription	Placenta	Placenta
26	chr21:17187400-17208800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr21:17187600-17192400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr21:17187800-17192400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr21:17187800-17192800	Strong transcription	Primary B cells from cord blood	blood
30	chr21:17187800-17203600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr21:17188000-17192400	Strong transcription	Dnd41	blood
32	chr21:17188000-17192600	Strong transcription	Fetal Thymus	thymus
33	chr21:17188000-17193600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr21:17188000-17197000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr21:17188000-17197600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr21:17188000-17199200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr21:17188000-17199200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr21:17188000-17203800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr21:17188000-17208800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr21:17188000-17214000	Weak transcription	Gastric	stomach
41	chr21:17188000-17229400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr21:17188000-17240200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr21:17188200-17192600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr21:17188200-17193600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr21:17188200-17195400	Strong transcription	Primary B cells from peripheral blood	blood
46	chr21:17188200-17203800	Weak transcription	Fetal Lung	lung
47	chr21:17188200-17213400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr21:17188200-17246800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr21:17188400-17198400	Weak transcription	A549	lung
50	chr21:17188400-17206600	Weak transcription	Stomach Mucosa	stomach

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