Variant report

Variant	rs73635365
Chromosome Location	chr8:42787917-42787918
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42780929..42782599-chr8:42786860..42788942,2	K562	blood:
2	chr8:42779779..42782429-chr8:42786638..42788942,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10453137	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11984488	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11984550	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11984732	0.90[EUR][1000 genomes]
rs11986255	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11987452	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11988102	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11988197	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11988227	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11988823	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11990369	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11991133	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11991458	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11992397	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11992567	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11992660	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11992682	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11993667	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11994318	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11995473	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995810	0.85[EUR][1000 genomes]
rs11996604	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11997992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17622134	0.90[EUR][1000 genomes]
rs17694846	0.86[EUR][1000 genomes]
rs2194902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28799623	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34489103	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57363090	0.90[EUR][1000 genomes]
rs57797146	0.86[EUR][1000 genomes]
rs57986156	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58081556	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58384533	0.86[EUR][1000 genomes]
rs58641534	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59164172	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59177170	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59213790	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59531993	0.90[EUR][1000 genomes]
rs59805921	0.86[EUR][1000 genomes]
rs60443202	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60555023	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60782941	0.91[AFR][1000 genomes]
rs61224035	0.81[AFR][1000 genomes]
rs61733908	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6651368	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6651369	0.81[EUR][1000 genomes]
rs7004940	0.90[EUR][1000 genomes]
rs7008140	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7010367	0.81[EUR][1000 genomes]
rs73627229	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627242	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627249	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627250	0.83[AFR][1000 genomes]
rs73627252	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627273	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627274	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627276	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627278	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627280	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627282	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627288	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627294	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629103	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629110	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629152	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629156	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629161	0.81[EUR][1000 genomes]
rs73629163	0.81[EUR][1000 genomes]
rs73629177	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629179	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629182	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629190	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629192	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629194	0.85[AMR][1000 genomes]
rs73634666	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73634670	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73634673	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73634677	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73634682	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73634696	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635313	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635316	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73635325	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635331	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635345	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635352	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635357	0.81[AFR][1000 genomes]
rs73635362	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635364	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635366	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635368	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635370	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820326	0.90[EUR][1000 genomes]
rs7838845	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	esv3391654	chr8:42772844-42799123	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
8	esv3374088	chr8:42772844-42802608	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
2	chr8:42754400-42806400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:42754800-42812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:42766800-42806800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:42771400-42788600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:42772400-42800800	Weak transcription	Colonic Mucosa	Colon
7	chr8:42772600-42789800	Weak transcription	Small Intestine	intestine
8	chr8:42772600-42815400	Weak transcription	Gastric	stomach
9	chr8:42772600-42815400	Weak transcription	Psoas Muscle	Psoas
10	chr8:42774200-42806400	Weak transcription	Lung	lung
11	chr8:42775600-42814400	Weak transcription	Right Ventricle	heart
12	chr8:42776000-42796800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:42776000-42797800	Weak transcription	K562	blood
14	chr8:42776000-42802600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:42776000-42814400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
17	chr8:42776200-42791000	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:42776200-42793400	Weak transcription	Brain Substantia Nigra	brain
19	chr8:42776200-42810600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:42776400-42807200	Weak transcription	NHDF-Ad	bronchial
21	chr8:42776400-42814200	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:42777200-42805000	Weak transcription	A549	lung
23	chr8:42777400-42814400	Weak transcription	Spleen	Spleen
24	chr8:42779200-42788600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:42779200-42815800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:42779400-42791000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:42779800-42788600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:42780400-42789200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:42780400-42790000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:42780600-42790000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr8:42780800-42789800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:42781000-42789200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:42781000-42789600	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr8:42781200-42814400	Weak transcription	Pancreas	Pancrea
35	chr8:42781400-42789600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr8:42782200-42798600	Weak transcription	Hela-S3	cervix
37	chr8:42782200-42806600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr8:42782400-42789600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:42782600-42815400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr8:42783200-42790200	Weak transcription	Fetal Brain Female	brain
41	chr8:42783400-42788200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:42783600-42789400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:42784400-42789200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:42785000-42789000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr8:42785000-42789400	Strong transcription	NH-A	brain
46	chr8:42785000-42790200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:42785200-42788000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr8:42785400-42788000	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr8:42785400-42788400	Strong transcription	Osteobl	bone
50	chr8:42785400-42789800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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