Variant report

Variant	rs73090513
Chromosome Location	chr4:7863072-7863073
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7857940..7860738-chr4:7861450..7863442,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10005650	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10024625	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28425587	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28434072	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28498817	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28607438	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28668205	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28675899	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28735181	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28735634	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28842326	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4401450	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4478172	0.83[ASN][1000 genomes]
rs4488938	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4696771	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61081420	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61214925	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6605361	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6820041	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6839086	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6842743	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71175434	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73073924	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73073939	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73088591	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088594	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090508	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7376703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7378072	0.80[ASN][1000 genomes]
rs7676488	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7691757	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7695510	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9330346	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9654093	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7845000-7863200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:7848000-7872200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:7852600-7873600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:7855200-7863400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:7855600-7863200	Weak transcription	Hela-S3	cervix
6	chr4:7856200-7872800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:7856400-7865600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:7856400-7865800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:7856600-7863200	Weak transcription	Fetal Kidney	kidney
10	chr4:7857200-7863200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:7857200-7864800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:7857600-7873000	Weak transcription	Colonic Mucosa	Colon
13	chr4:7857800-7896400	Weak transcription	Spleen	Spleen
14	chr4:7859000-7865600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr4:7859400-7863600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:7859400-7865600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr4:7859400-7865600	Genic enhancers	Osteobl	bone
18	chr4:7859600-7869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:7859600-7869400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr4:7859800-7865600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr4:7859800-7865600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:7859800-7865600	Weak transcription	Brain Angular Gyrus	brain
23	chr4:7859800-7865600	Weak transcription	Stomach Mucosa	stomach
24	chr4:7859800-7872600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:7860000-7864800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:7860000-7864800	Genic enhancers	HSMMtube	muscle
27	chr4:7860000-7865600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:7860000-7865600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr4:7860200-7867600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:7860400-7865600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:7860400-7870200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:7860600-7865600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr4:7860800-7863400	Weak transcription	Fetal Heart	heart
34	chr4:7860800-7865600	Weak transcription	Gastric	stomach
35	chr4:7860800-7865600	Weak transcription	Lung	lung
36	chr4:7860800-7865600	Weak transcription	Pancreas	Pancrea
37	chr4:7860800-7869000	Weak transcription	Aorta	Aorta
38	chr4:7860800-7872800	Weak transcription	Right Ventricle	heart
39	chr4:7861200-7872800	Weak transcription	Psoas Muscle	Psoas
40	chr4:7861400-7863800	Genic enhancers	Fetal Muscle Leg	muscle
41	chr4:7861400-7865600	Weak transcription	HepG2	liver
42	chr4:7861600-7863400	Strong transcription	Fetal Intestine Small	intestine
43	chr4:7861800-7863400	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr4:7862000-7863200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:7862000-7863800	Enhancers	Fetal Brain Female	brain
46	chr4:7862000-7865200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr4:7862000-7865600	Genic enhancers	HSMM	muscle
48	chr4:7862200-7863600	Enhancers	Placenta	Placenta
49	chr4:7862200-7863600	Genic enhancers	Fetal Stomach	stomach
50	chr4:7862200-7863600	Enhancers	Rectal Smooth Muscle	rectum

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