Variant report

Variant	rs73094558
Chromosome Location	chr1:227822094-227822095
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	chr1:227821457..227823471-chr1:227912921..227914771,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs12563564	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12564917	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12565618	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12565653	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12567084	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16847822	1.00[AMR][1000 genomes]
rs16847912	1.00[AMR][1000 genomes]
rs16847929	1.00[AMR][1000 genomes]
rs16847987	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16859962	1.00[AMR][1000 genomes]
rs16860227	1.00[AMR][1000 genomes]
rs17492447	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2101862	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2313220	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35703429	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57165550	1.00[AMR][1000 genomes]
rs58322371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59404931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59461077	1.00[AMR][1000 genomes]
rs59772630	1.00[AMR][1000 genomes]
rs60835672	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61283390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665512	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6675470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088936	1.00[AMR][1000 genomes]
rs73090912	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090935	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090936	1.00[AMR][1000 genomes]
rs73090937	1.00[AMR][1000 genomes]
rs73090938	1.00[AMR][1000 genomes]
rs73090942	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090947	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090948	1.00[AMR][1000 genomes]
rs73090952	1.00[AMR][1000 genomes]
rs73090959	1.00[AMR][1000 genomes]
rs73090985	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090986	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090987	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090994	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090995	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091000	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092604	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092607	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092610	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092646	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093304	1.00[AMR][1000 genomes]
rs73093319	1.00[AMR][1000 genomes]
rs73093328	1.00[AMR][1000 genomes]
rs73093344	1.00[AMR][1000 genomes]
rs73093354	1.00[AMR][1000 genomes]
rs73094528	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094566	1.00[AFR][1000 genomes]
rs73094571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73098926	1.00[AMR][1000 genomes]
rs73098933	1.00[AMR][1000 genomes]
rs73099300	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099302	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73101625	1.00[AMR][1000 genomes]
rs73101653	1.00[AMR][1000 genomes]
rs7526436	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7546845	1.00[AMR][1000 genomes]
rs7554851	1.00[AMR][1000 genomes]
rs7554870	1.00[AMR][1000 genomes]
rs7555208	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv3327012	chr1:227741102-227890968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv945342	chr1:227819395-227829907	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227770000-227853800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:227790400-227834800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:227805800-227823600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:227811800-227830600	ZNF genes & repeats	Liver	Liver
5	chr1:227815200-227828800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:227818600-227822200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr1:227818600-227822600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:227818600-227830600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
9	chr1:227818600-227834200	ZNF genes & repeats	Fetal Brain Female	brain
10	chr1:227818800-227822800	ZNF genes & repeats	Primary B cells from cord blood	blood
11	chr1:227819000-227822400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:227819400-227823800	ZNF genes & repeats	Fetal Muscle Leg	muscle
13	chr1:227819800-227825200	ZNF genes & repeats	Aorta	Aorta
14	chr1:227819800-227837600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:227820000-227822200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:227820000-227822800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:227820000-227822800	ZNF genes & repeats	Lung	lung
18	chr1:227820000-227823600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr1:227820000-227823800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr1:227820000-227823800	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr1:227820000-227829200	ZNF genes & repeats	Fetal Stomach	stomach
22	chr1:227820200-227822600	ZNF genes & repeats	Brain Germinal Matrix	brain
23	chr1:227820200-227830400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr1:227820200-227831400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr1:227820400-227824400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:227820600-227822400	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:227820600-227822600	ZNF genes & repeats	Brain Hippocampus Middle	brain
28	chr1:227820600-227822600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
29	chr1:227820600-227822600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
30	chr1:227820600-227823000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
31	chr1:227820600-227825200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
32	chr1:227820600-227861600	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr1:227820800-227822400	ZNF genes & repeats	Left Ventricle	heart
34	chr1:227820800-227823600	ZNF genes & repeats	Gastric	stomach
35	chr1:227821400-227822200	ZNF genes & repeats	Placenta	Placenta
36	chr1:227821400-227822400	ZNF genes & repeats	Colonic Mucosa	Colon
37	chr1:227821400-227823400	ZNF genes & repeats	Spleen	Spleen
38	chr1:227821400-227826600	ZNF genes & repeats	Fetal Lung	lung
39	chr1:227821600-227822800	ZNF genes & repeats	Primary T cells from cord blood	blood
40	chr1:227821600-227823600	ZNF genes & repeats	Pancreas	Pancrea
41	chr1:227821800-227822400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
42	chr1:227821800-227822600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:227822000-227822400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
44	chr1:227822000-227822600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood

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