Variant report

Variant	rs6983422
Chromosome Location	chr8:118809495-118809496
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:10173856..10175564-chr8:118809117..118811670,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10103321	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10808486	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10808487	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12542388	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1828151	0.83[AMR][1000 genomes]
rs36123499	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4418376	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4419839	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4514007	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4582595	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4606089	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4618730	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4876386	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4876742	0.83[EUR][1000 genomes]
rs4876751	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4876754	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6469708	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6988915	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6988932	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6999317	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7008243	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7465381	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7821165	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7823474	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7830962	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7837621	0.84[AMR][1000 genomes];0.91[EUR][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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831438	chr8:118679896-118823600	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv933429	chr8:118798533-118812170	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118800000-118816400	Weak transcription	Brain Angular Gyrus	brain
2	chr8:118800200-118815800	Weak transcription	Esophagus	oesophagus
3	chr8:118800600-118822800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:118801000-118843600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:118801400-118811000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:118801600-118809600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:118801600-118809600	Weak transcription	Gastric	stomach
8	chr8:118801600-118810000	Weak transcription	Ovary	ovary
9	chr8:118802200-118821200	Strong transcription	NHDF-Ad	bronchial
10	chr8:118802400-118820400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:118803600-118811600	Weak transcription	Fetal Intestine Small	intestine
12	chr8:118804200-118810000	Weak transcription	Lung	lung
13	chr8:118804200-118813600	Strong transcription	NH-A	brain
14	chr8:118804200-118836000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:118804200-118838000	Strong transcription	HSMM	muscle
16	chr8:118804400-118816400	Weak transcription	Spleen	Spleen
17	chr8:118804600-118816800	Weak transcription	Small Intestine	intestine
18	chr8:118804800-118815600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:118804800-118815800	Weak transcription	Colonic Mucosa	Colon
20	chr8:118804800-118822400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:118805200-118814200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:118805200-118819400	Weak transcription	Thymus	Thymus
23	chr8:118805400-118814000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:118805400-118821200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr8:118805400-118826000	Strong transcription	NHLF	lung
26	chr8:118805400-118836800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:118805600-118849800	Strong transcription	Liver	Liver
28	chr8:118806000-118823200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:118806200-118810800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:118806600-118810000	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:118806600-118810200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:118806600-118811200	Weak transcription	Fetal Lung	lung
33	chr8:118806600-118811600	Weak transcription	Placenta	Placenta
34	chr8:118806600-118811800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:118806600-118811800	Weak transcription	Pancreas	Pancrea
36	chr8:118806600-118815600	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:118806600-118816400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr8:118806600-118816400	Weak transcription	Brain Substantia Nigra	brain
39	chr8:118806600-118824800	Weak transcription	Right Ventricle	heart
40	chr8:118806800-118809600	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:118806800-118809600	Weak transcription	Left Ventricle	heart
42	chr8:118806800-118811000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:118806800-118811600	Weak transcription	Fetal Stomach	stomach
44	chr8:118807200-118811800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:118807400-118811400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:118807400-118811600	Weak transcription	Aorta	Aorta
47	chr8:118807400-118811600	Weak transcription	HepG2	liver
48	chr8:118807400-118815400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr8:118807600-118809600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:118807600-118815400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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