Variant report

Variant	rs73346766
Chromosome Location	chr21:17187321-17187322
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	chr21:17185700..17188175-chr21:17191244..17192922,2	K562	blood:
2	chr21:17186675..17188666-chr21:17191244..17193350,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1022457	0.84[EUR][1000 genomes]
rs11910884	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1543299	0.82[ASN][1000 genomes]
rs17241409	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17241430	0.86[ASN][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];0.89[ASN][1000 genomes]
rs17307170	0.86[ASN][1000 genomes]
rs17307176	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17307190	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17307197	0.95[EUR][1000 genomes]
rs17307204	0.95[EUR][1000 genomes]
rs2026853	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2205585	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2205588	0.95[EUR][1000 genomes]
rs2205589	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2223176	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2242676	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2242677	0.84[ASN][1000 genomes]
rs2242680	0.95[EUR][1000 genomes]
rs2242681	0.95[EUR][1000 genomes]
rs2245574	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2404000	0.95[EUR][1000 genomes]
rs2823471	0.84[EUR][1000 genomes]
rs2823476	0.84[AFR][1000 genomes]
rs2823478	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2823482	0.84[AFR][1000 genomes]
rs2823489	0.84[AFR][1000 genomes]
rs2823491	0.87[EUR][1000 genomes]
rs2823493	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2823495	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2823496	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2823497	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2823498	0.94[EUR][1000 genomes]
rs2823499	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823500	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2823502	0.87[AFR][1000 genomes]
rs2823503	0.87[AFR][1000 genomes]
rs2823504	0.81[EUR][1000 genomes]
rs2823505	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823510	0.84[EUR][1000 genomes]
rs2823511	0.84[EUR][1000 genomes]
rs2823513	0.81[EUR][1000 genomes]
rs28627435	0.84[AFR][1000 genomes]
rs3787577	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56299770	0.84[ASN][1000 genomes]
rs56410772	0.82[ASN][1000 genomes]
rs56666611	0.82[EUR][1000 genomes]
rs59084861	0.95[EUR][1000 genomes]
rs60191002	0.84[ASN][1000 genomes]
rs6517648	0.85[AFR][1000 genomes]
rs6517652	0.86[AFR][1000 genomes]
rs6517675	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7278727	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7281511	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7283707	0.82[AFR][1000 genomes]
rs73181987	0.82[ASN][1000 genomes]
rs73346769	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73357260	0.82[EUR][1000 genomes]
rs8127570	0.81[EUR][1000 genomes]
rs8128073	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8128766	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8133079	0.95[EUR][1000 genomes]
rs9974210	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9976815	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9977000	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9977069	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9981766	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9983248	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9983385	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9983858	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];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	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17151800-17191000	Weak transcription	NH-A	brain
2	chr21:17155000-17187400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr21:17155000-17188600	Weak transcription	HepG2	liver
4	chr21:17155200-17187400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr21:17155200-17187800	Weak transcription	Fetal Kidney	kidney
6	chr21:17155200-17189800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr21:17155200-17197600	Weak transcription	Fetal Heart	heart
8	chr21:17155200-17199200	Weak transcription	Right Ventricle	heart
9	chr21:17155200-17203800	Weak transcription	Colon Smooth Muscle	Colon
10	chr21:17155200-17209800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr21:17155200-17252800	Weak transcription	Fetal Brain Male	brain
12	chr21:17161600-17187400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:17169000-17194200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr21:17171400-17187600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr21:17174400-17193000	Weak transcription	NHEK	skin
16	chr21:17175800-17189800	Weak transcription	NHLF	lung
17	chr21:17176000-17198200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr21:17177200-17189800	Weak transcription	Pancreas	Pancrea
19	chr21:17177200-17208800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr21:17177600-17190000	Weak transcription	Brain Anterior Caudate	brain
21	chr21:17177800-17187400	Weak transcription	Gastric	stomach
22	chr21:17178400-17248200	Weak transcription	Esophagus	oesophagus
23	chr21:17178400-17252800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr21:17178800-17211400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr21:17179800-17192400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr21:17180000-17187400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr21:17180200-17189800	Weak transcription	Left Ventricle	heart
28	chr21:17180400-17187400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr21:17180400-17193000	Weak transcription	NHDF-Ad	bronchial
30	chr21:17180600-17191200	Weak transcription	HMEC	breast
31	chr21:17180800-17199200	Weak transcription	HSMMtube	muscle
32	chr21:17182400-17227800	Weak transcription	Psoas Muscle	Psoas
33	chr21:17182600-17187400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr21:17182600-17187400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr21:17182800-17187400	Weak transcription	Adipose Nuclei	Adipose
36	chr21:17182800-17187600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr21:17182800-17188800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr21:17183200-17189600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr21:17183400-17190000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr21:17183400-17192600	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr21:17183400-17192800	Weak transcription	Osteobl	bone
42	chr21:17184000-17187400	Weak transcription	Liver	Liver
43	chr21:17184000-17187800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr21:17184000-17188600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr21:17184000-17189400	Weak transcription	HUVEC	blood vessel
46	chr21:17184000-17203800	Weak transcription	Brain Hippocampus Middle	brain
47	chr21:17184000-17209800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr21:17184200-17189800	Weak transcription	HSMM	muscle
49	chr21:17184400-17187400	Weak transcription	Placenta	Placenta
50	chr21:17184600-17192200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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