Variant report

Variant	rs59924471
Chromosome Location	chr8:90798973-90798974
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	chr1:152113868..152114505-chr8:90798777..90799465,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NBN-5	chr8:90798778-90799078	ucscGeneNc_uc003yed_1

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10504882	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10504883	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16900025	0.87[ASN][1000 genomes]
rs16900480	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900484	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900581	1.00[ASN][1000 genomes]
rs16900589	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16900592	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16900617	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16900677	1.00[ASN][1000 genomes]
rs16900711	1.00[ASN][1000 genomes]
rs2293807	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55697113	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55702923	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55881928	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55914077	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55945927	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56118532	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56275901	0.87[ASN][1000 genomes]
rs56302550	0.90[ASN][1000 genomes]
rs56716125	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56793332	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57701764	0.90[ASN][1000 genomes]
rs58330617	0.90[ASN][1000 genomes]
rs58972679	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59312383	0.90[ASN][1000 genomes]
rs59581432	0.90[ASN][1000 genomes]
rs59678171	0.90[ASN][1000 genomes]
rs59941801	0.90[ASN][1000 genomes]
rs59988473	0.90[ASN][1000 genomes]
rs60183011	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60327583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60651842	0.90[ASN][1000 genomes]
rs60691618	0.90[ASN][1000 genomes]
rs60772522	0.90[ASN][1000 genomes]
rs60959735	0.90[ASN][1000 genomes]
rs61017576	0.81[ASN][1000 genomes]
rs61044501	0.87[ASN][1000 genomes]
rs61258433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61450435	0.90[ASN][1000 genomes]
rs61662505	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6998044	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7010806	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73694459	0.87[ASN][1000 genomes]
rs73694461	0.87[ASN][1000 genomes]
rs73694462	0.87[ASN][1000 genomes]
rs73694463	0.85[ASN][1000 genomes]
rs73694485	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73694486	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73694487	1.00[ASN][1000 genomes]
rs73694488	1.00[ASN][1000 genomes]
rs73694490	1.00[ASN][1000 genomes]
rs73694492	1.00[ASN][1000 genomes]
rs73694493	1.00[ASN][1000 genomes]
rs73694496	0.95[ASN][1000 genomes]
rs7817339	0.87[ASN][1000 genomes]
rs7829418	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7830914	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7839470	0.87[ASN][1000 genomes]
rs7839478	0.87[ASN][1000 genomes]
rs9721216	0.88[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	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr8:90771600-90803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:90771800-90805000	Weak transcription	Esophagus	oesophagus
3	chr8:90772200-90802000	Weak transcription	Colonic Mucosa	Colon
4	chr8:90772200-90802400	Weak transcription	Spleen	Spleen
5	chr8:90772200-90805200	Weak transcription	Fetal Brain Male	brain
6	chr8:90772200-90807200	Weak transcription	Pancreas	Pancrea
7	chr8:90772200-90809400	Weak transcription	Small Intestine	intestine
8	chr8:90772400-90802200	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:90773000-90806800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:90773000-90812400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:90773200-90799000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:90774200-90803600	Weak transcription	Fetal Heart	heart
13	chr8:90775800-90807200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:90776400-90799800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:90779000-90801200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:90779600-90802200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:90781400-90806600	Weak transcription	Right Ventricle	heart
18	chr8:90781800-90805600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:90783600-90803600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
21	chr8:90784400-90799400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:90785600-90799200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:90785600-90813800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:90785800-90807200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:90785800-90810800	Weak transcription	Fetal Brain Female	brain
26	chr8:90786000-90799000	Weak transcription	Brain Angular Gyrus	brain
27	chr8:90786000-90799600	Weak transcription	Brain Substantia Nigra	brain
28	chr8:90786000-90813000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:90786400-90809800	Weak transcription	HepG2	liver
30	chr8:90787400-90799200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:90788600-90799000	Weak transcription	Brain Anterior Caudate	brain
32	chr8:90792000-90804200	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:90792200-90802600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:90792200-90805800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:90793600-90806400	Strong transcription	Liver	Liver
36	chr8:90794400-90799200	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:90794400-90799200	Weak transcription	Fetal Lung	lung
38	chr8:90794400-90802200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:90794600-90799000	Weak transcription	HUVEC	blood vessel
40	chr8:90794600-90799200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr8:90794800-90799200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:90794800-90799800	Weak transcription	Hela-S3	cervix
43	chr8:90794800-90800200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr8:90794800-90802200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr8:90794800-90802200	Weak transcription	Thymus	Thymus
46	chr8:90795000-90801400	Weak transcription	HMEC	breast
47	chr8:90795000-90802000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:90795000-90802200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr8:90795000-90802400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr8:90795000-90803400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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